#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA12	26154	genome.wustl.edu	37	2	215848404	215848404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:215848404C>T	ENST00000272895.7	-	29	4568	c.4349G>A	c.(4348-4350)tGg>tAg	p.W1450*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.W1132*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1450	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTAGTCCAGTGAGGAAC	0.453																																					Ovarian(66;664 1488 5121 34295)												0													181.0	163.0	169.0					2																	215848404		2203	4300	6503	SO:0001587	stop_gained	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4349G>A	2.37:g.215848404C>T	ENSP00000272895:p.Trp1450*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.W1450*	ENST00000272895.7	37	c.4349	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	45	11.291098	0.99542	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	6.0	6.0	0.97389	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4913	0.99204	0.0:1.0:0.0:0.0	.	.	.	.	X	1450;1132	.	ENSP00000272895:W1450X	W	-	2	0	ABCA12	215556649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.801000	0.85960	2.846000	0.97976	0.603000	0.83216	TGG	ABCA12	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000144452		0.453	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0.00	49	0	C	NM_173076		215848404	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	nonsense	55.36	25	31	SNP	1.000	T
ABCD3	5825	genome.wustl.edu	37	1	94930395	94930395	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:94930395T>C	ENST00000370214.4	+	3	236	c.212T>C	c.(211-213)cTg>cCg	p.L71P	ABCD3_ENST00000315713.5_Missense_Mutation_p.L71P|ABCD3_ENST00000454898.2_Missense_Mutation_p.L95P|ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.L71P	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	71	Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATACAGATTCTGAAAATCATG	0.368																																																	0													112.0	111.0	111.0					1																	94930395		2203	4300	6503	SO:0001583	missense	0			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.212T>C	1.37:g.94930395T>C	ENSP00000359233:p.Leu71Pro		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.L95P	ENST00000370214.4	37	c.284	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183561	0.78677	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000370214;ENST00000315713	D;D;D;D	0.99751	-6.63;-6.63;-6.63;-6.63	5.78	5.78	0.91487	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);	0.071511	0.56097	D	0.000024	D	0.99816	0.9919	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.988;0.999	D;D;D;D	0.78314	0.981;0.991;0.972;0.971	D	0.96809	0.9595	10	0.87932	D	0	-7.7971	14.627	0.68629	0.0:0.0:0.0:1.0	.	95;71;71;71	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	P	71;95;71;71	ENSP00000377780:L71P;ENSP00000403357:L95P;ENSP00000359233:L71P;ENSP00000326880:L71P	ENSP00000326880:L71P	L	+	2	0	ABCD3	94702983	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.858000	0.69532	2.333000	0.79357	0.533000	0.62120	CTG	ABCD3	-	pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,tigrfam_FA_transporter	ENSG00000117528		0.368	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	-	0.00	59	0	T	NM_002858		94930395	+1	tier1	-	no_errors	ENST00000454898	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	C
ACSBG2	81616	genome.wustl.edu	37	19	6147599	6147599	+	Silent	SNP	C	C	T	rs577031271		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:6147599C>T	ENST00000586696.1	+	3	486	c.210C>T	c.(208-210)ctC>ctT	p.L70L	ACSBG2_ENST00000252669.5_Silent_p.L70L|ACSBG2_ENST00000591403.1_Silent_p.L70L|ACSBG2_ENST00000588304.1_Silent_p.L20L|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	70					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCCAGCCCTCGCATCCAAGA	0.458													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.0																0													167.0	168.0	168.0					19																	6147599		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.210C>T	19.37:g.6147599C>T			B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.L70	ENST00000586696.1	37	c.210	CCDS12159.1	19																																																																																			ACSBG2	-	NULL	ENSG00000130377		0.458	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	-	0.00	49	0	C	NM_030924		6147599	+1	tier1	-	no_errors	ENST00000252669	ensembl	human	known	74_37	silent	10.00	54	6	SNP	0.000	T
ADAMTS13	11093	genome.wustl.edu	37	9	136298771	136298771	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:136298771G>A	ENST00000371929.3	+	11	1699	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G388R|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G419R|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.G91R|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	419	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCTGCCTTTGGGGGGCGTGC	0.612																																																	0													100.0	82.0	88.0					9																	136298771		2203	4300	6503	SO:0001583	missense	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1255G>A	9.37:g.136298771G>A	ENSP00000360997:p.Gly419Arg		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G419R	ENST00000371929.3	37	c.1255	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648758	0.87958	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.63096	-0.02;-0.02;-0.02;3.01	4.88	4.88	0.63580	.	.	.	.	.	D	0.83912	0.5357	M	0.92367	3.3	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.988	D	0.87698	0.2558	9	0.59425	D	0.04	.	17.3927	0.87436	0.0:0.0:1.0:0.0	.	419;388;419	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	R	419;419;388;91	ENSP00000360997:G419R;ENSP00000347927:G419R;ENSP00000348997:G388R;ENSP00000444504:G91R	ENSP00000347927:G419R	G	+	1	0	ADAMTS13	135288592	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	7.548000	0.82154	2.410000	0.81850	0.462000	0.41574	GGG	ADAMTS13	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000160323		0.612	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	-	0.00	68	0	G	NM_139025		136298771	+1	tier1	-	no_errors	ENST00000371929	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	A
ADAMTS16	170690	genome.wustl.edu	37	5	5242181	5242181	+	Silent	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:5242181A>C	ENST00000274181.7	+	17	2677	c.2539A>C	c.(2539-2541)Agg>Cgg	p.R847R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	847	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTTTCAGGGAAGGAACCCGGG	0.493																																																	0													56.0	60.0	59.0					5																	5242181		1895	4117	6012	SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2539A>C	5.37:g.5242181A>C			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R847	ENST00000274181.7	37	c.2539	CCDS43299.1	5																																																																																			ADAMTS16	-	pfam_ADAM_spacer1	ENSG00000145536		0.493	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0.00	69	0	A	NM_139056		5242181	+1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	silent	21.31	48	13	SNP	0.842	C
ADAMTSL1	92949	genome.wustl.edu	37	9	18777699	18777699	+	Nonsense_Mutation	SNP	C	C	T	rs374811326		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:18777699C>T	ENST00000380548.4	+	19	3811	c.3472C>T	c.(3472-3474)Cga>Tga	p.R1158*		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1158						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGAGGCTCTCGAAGGCCACA	0.672																																																	0													25.0	30.0	29.0					9																	18777699		2130	4223	6353	SO:0001587	stop_gained	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3472C>T	9.37:g.18777699C>T	ENSP00000369921:p.Arg1158*		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R1158*	ENST00000380548.4	37	c.3472	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.649958	0.99229	.	.	ENSG00000178031	ENST00000380548	.	.	.	5.31	5.31	0.75309	.	0.471726	0.19906	N	0.103415	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	19.8704	0.96847	0.0:1.0:0.0:0.0	.	.	.	.	X	1158	.	ENSP00000369921:R1158X	R	+	1	2	ADAMTSL1	18767699	0.011000	0.17503	0.198000	0.23420	0.064000	0.16182	1.532000	0.36029	2.868000	0.98415	0.557000	0.71058	CGA	ADAMTSL1	-	NULL	ENSG00000178031		0.672	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0.00	55	0	C			18777699	+1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	nonsense	43.24	21	16	SNP	0.299	T
ADCY1	107	genome.wustl.edu	37	7	45743226	45743226	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:45743226G>T	ENST00000297323.7	+	16	2621	c.2599G>T	c.(2599-2601)Gtg>Ttg	p.V867L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	867					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTACTCCCAGGTGGGCGTCAT	0.567																																																	0													135.0	115.0	122.0					7																	45743226		2203	4300	6503	SO:0001583	missense	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2599G>T	7.37:g.45743226G>T	ENSP00000297323:p.Val867Leu		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V867L	ENST00000297323.7	37	c.2599	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520603	0.64747	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.85629	-2.01	4.65	3.77	0.43336	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.056755	0.64402	D	0.000001	D	0.92909	0.7744	H	0.98849	4.35	0.53688	D	0.999979	P	0.41848	0.763	P	0.48400	0.576	D	0.93802	0.7102	10	0.72032	D	0.01	.	10.6866	0.45846	0.0941:0.0:0.9059:0.0	.	867	Q08828	ADCY1_HUMAN	L	867	ENSP00000297323:V867L	ENSP00000297323:V867L	V	+	1	0	ADCY1	45709751	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.053000	0.93860	1.308000	0.44962	0.455000	0.32223	GTG	ADCY1	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000164742		0.567	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2		0.00	63	0	G	NM_021116		45743226	+1			no_errors	ENST00000297323	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T
AK8	158067	genome.wustl.edu	37	9	135602886	135602886	+	Missense_Mutation	SNP	A	A	G	rs570204054		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:135602886A>G	ENST00000298545.3	-	12	1678	c.1157T>C	c.(1156-1158)aTg>aCg	p.M386T	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	386	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.M386K(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CAGCCGCTCCATGATGGAATC	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		20782	0.0		0.001	False		,,,				2504	0.0																2	Substitution - Missense(2)	kidney(2)											96.0	93.0	94.0					9																	135602886		2203	4300	6503	SO:0001583	missense	0			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1157T>C	9.37:g.135602886A>G	ENSP00000298545:p.Met386Thr		A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.M386T	ENST00000298545.3	37	c.1157	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	A	3.216	-0.160653	0.06502	.	.	ENSG00000165695	ENST00000298545	T	0.75704	-0.96	4.85	2.51	0.30379	.	0.910316	0.09442	N	0.801634	T	0.57431	0.2053	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47699	-0.9097	10	0.48119	T	0.1	-0.628	3.6542	0.08214	0.7051:0.0:0.1022:0.1927	.	386	Q96MA6	KAD8_HUMAN	T	386	ENSP00000298545:M386T	ENSP00000298545:M386T	M	-	2	0	AK8	134592707	0.729000	0.28090	0.004000	0.12327	0.425000	0.31504	2.404000	0.44539	0.697000	0.31718	-0.549000	0.04216	ATG	AK8	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase	ENSG00000165695		0.448	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1		0.00	51	0	A	NM_152572		135602886	-1			no_errors	ENST00000298545	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.006	G
ALMS1P	200420	genome.wustl.edu	37	2	73900975	73900975	+	RNA	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:73900975C>T	ENST00000450720.1	+	0	773					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												ACTTCATCTCCCACATTGGGG	0.423																																																	0													91.0	74.0	79.0					2																	73900975		692	1591	2283			0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73900975C>T				RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.423	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1		0.00	58	0	C	NR_003683		73900975	+1			no_errors	ENST00000450720	ensembl	human	known	74_37	rna	5.88	48	3	SNP	0.992	T
ALPL	249	genome.wustl.edu	37	1	21902315	21902315	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:21902315G>A	ENST00000374840.3	+	10	1337	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	ALPL_ENST00000374830.1_Missense_Mutation_p.G9S|ALPL_ENST00000374832.1_Missense_Mutation_p.G363S|ALPL_ENST00000374829.1_Missense_Mutation_p.G9S|ALPL_ENST00000425315.2_Missense_Mutation_p.G363S|ALPL_ENST00000539907.1_Missense_Mutation_p.G286S|ALPL_ENST00000540617.1_Missense_Mutation_p.G308S	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	363					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CGGGCAGGCAGGCAGCTTGAC	0.597																																																	0													160.0	151.0	154.0					1																	21902315		2203	4300	6503	SO:0001583	missense	0			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1087G>A	1.37:g.21902315G>A	ENSP00000363973:p.Gly363Ser		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.G363S	ENST00000374840.3	37	c.1087	CCDS217.1	1	.	.	.	.	.	.	.	.	.	.	G	1.881	-0.457754	0.04508	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	4.91	4.91	0.64330	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.110962	0.64402	D	0.000010	D	0.91297	0.7256	L	0.31120	0.905	0.41069	D	0.985431	B;B;B	0.20988	0.005;0.05;0.035	B;B;B	0.30572	0.019;0.058;0.117	D	0.86702	0.1930	10	0.06625	T	0.88	-20.4234	15.6037	0.76646	0.0:0.0:1.0:0.0	.	286;311;363	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	S	286;308;363;363;363;9;9	ENSP00000437674:G286S;ENSP00000442672:G308S;ENSP00000363973:G363S;ENSP00000363965:G363S;ENSP00000394765:G363S;ENSP00000363963:G9S;ENSP00000363962:G9S	ENSP00000363962:G9S	G	+	1	0	ALPL	21774902	0.964000	0.33143	0.018000	0.16275	0.003000	0.03518	2.215000	0.42862	2.280000	0.76307	0.561000	0.74099	GGC	ALPL	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000162551		0.597	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	HGNC	protein_coding	OTTHUMT00000008202.1	-	0.00	58	0	G	NM_000478		21902315	+1	tier1	-	no_errors	ENST00000374832	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.583	A
PCED1B	91523	genome.wustl.edu	37	12	47471279	47471279	+	5'Flank	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:47471279T>C	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.K503E|AMIGO2_ENST00000266581.4_Missense_Mutation_p.K503E|AMIGO2_ENST00000550413.1_Missense_Mutation_p.K503E|AMIGO2_ENST00000321382.3_Missense_Mutation_p.K503E			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										GAGTCAGATTTCCCCCTCGTG	0.468																																																	0													70.0	67.0	68.0					12																	47471279		2203	4300	6503	SO:0001631	upstream_gene_variant	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471279T>C	Exception_encountered		Q96B20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom	p.K503E	ENST00000546455.1	37	c.1507	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146625	0.77888	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.09	5.09	0.68999	.	0.280929	0.35124	N	0.003424	T	0.66829	0.2829	M	0.72894	2.215	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.68318	-0.5440	10	0.48119	T	0.1	-15.8743	14.7537	0.69546	0.0:0.0:0.0:1.0	.	503	Q86SJ2	AMGO2_HUMAN	E	503	ENSP00000266581:K503E;ENSP00000449034:K503E;ENSP00000406020:K503E;ENSP00000320848:K503E	ENSP00000266581:K503E	K	-	1	0	AMIGO2	45757546	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	7.485000	0.81204	2.215000	0.71742	0.459000	0.35465	AAA	AMIGO2	-	NULL	ENSG00000139211		0.468	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO2	HGNC	protein_coding	OTTHUMT00000405079.1	-	0.00	29	0	T	NM_138371		47471279	-1	tier1	-	no_errors	ENST00000266581	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	C
ANKRD36C	400986	genome.wustl.edu	37	2	96578003	96578003	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:96578003G>A	ENST00000456556.1	-	42	2726	c.2642C>T	c.(2641-2643)aCa>aTa	p.T881I	ANKRD36C_ENST00000295246.5_Missense_Mutation_p.T30I|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	881							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGTCCTAGATGTTTCTCCATC	0.363																																																	0																																										SO:0001583	missense	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.2642C>T	2.37:g.96578003G>A	ENSP00000403302:p.Thr881Ile		C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T881I	ENST00000456556.1	37	c.2642		2	.	.	.	.	.	.	.	.	.	.	a	9.616	1.132578	0.21041	.	.	ENSG00000174501	ENST00000456556;ENST00000295246	T;T	0.80033	-1.33;-1.25	1.04	-0.384	0.12474	.	.	.	.	.	T	0.71854	0.3389	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.59484	-0.7446	6	0.35671	T	0.21	.	5.7924	0.18367	0.2398:0.0:0.7602:0.0	.	.	.	.	I	881;30	ENSP00000403302:T881I;ENSP00000295246:T30I	ENSP00000295246:T30I	T	-	2	0	AC073995.2	95941730	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.675000	0.05227	-0.461000	0.06993	-2.443000	0.00211	ACA	ANKRD36C	-	NULL	ENSG00000174501		0.363	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2		0.00	250	0	G	NM_001010914		96578003	-1			no_errors	ENST00000456556	ensembl	human	known	74_37	missense	30.94	124	56	SNP	0.001	A
ANKS3	124401	genome.wustl.edu	37	16	4750723	4750723	+	Intron	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:4750723G>T	ENST00000304283.4	-	11	1579				ANKS3_ENST00000450067.2_Missense_Mutation_p.P305H|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3											endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGCTCAGGGAGGCCAACTCCA	0.572																																																	0																																										SO:0001627	intron_variant	0			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1284+247C>A	16.37:g.4750723G>T			B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	NULL	p.P305H	ENST00000304283.4	37	c.914	CCDS10520.1	16	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453754	0.12283	.	.	ENSG00000168096	ENST00000450067	T	0.53423	0.62	2.25	0.142	0.14816	.	.	.	.	.	T	0.46927	0.1418	.	.	.	0.09310	N	1	P	0.47604	0.898	P	0.49140	0.601	T	0.38222	-0.9671	8	0.87932	D	0	.	5.7788	0.18294	0.1361:0.1965:0.6674:0.0	.	305	Q6ZWA7	.	H	305	ENSP00000388270:P305H	ENSP00000388270:P305H	P	-	2	0	ANKS3	4690724	0.929000	0.31497	0.007000	0.13788	0.006000	0.05464	0.359000	0.20233	-0.198000	0.10333	-1.598000	0.00824	CCT	ANKS3	-	NULL	ENSG00000168096		0.572	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	-	0.00	38	0	G	NM_133450		4750723	-1	tier1	-	no_errors	ENST00000450067	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.008	T
AOX1	316	genome.wustl.edu	37	2	201476191	201476191	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:201476191C>T	ENST00000374700.2	+	13	1479	c.1238C>T	c.(1237-1239)tCa>tTa	p.S413L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	413	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATCTTGGTCTCAGTGAACATC	0.428																																																	0													141.0	138.0	139.0					2																	201476191		2203	4300	6503	SO:0001583	missense	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1238C>T	2.37:g.201476191C>T	ENSP00000363832:p.Ser413Leu		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.S413L	ENST00000374700.2	37	c.1238	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.288181	0.95517	.	.	ENSG00000138356	ENST00000374700	T	0.26223	1.75	5.67	5.67	0.87782	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.063095	0.64402	D	0.000004	T	0.68311	0.2987	H	0.97874	4.095	0.80722	D	1	D	0.63046	0.992	D	0.73380	0.98	T	0.80854	-0.1196	10	0.87932	D	0	-22.5941	17.9588	0.89078	0.0:1.0:0.0:0.0	.	413	Q06278	ADO_HUMAN	L	413	ENSP00000363832:S413L	ENSP00000363832:S413L	S	+	2	0	AOX1	201184436	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	6.540000	0.73861	2.667000	0.90743	0.561000	0.74099	TCA	AOX1	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.428	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	-	0.00	50	0	C	NM_001159		201476191	+1	tier1	-	no_errors	ENST00000374700	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
AP3D1	8943	genome.wustl.edu	37	19	2111747	2111747	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:2111747C>T	ENST00000345016.5	-	23	2913	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	AP3D1_ENST00000355272.6_Silent_p.Q956Q|AP3D1_ENST00000356926.4_Silent_p.Q853Q|AP3D1_ENST00000350812.6_Silent_p.Q725Q	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	894					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCTGGAGGctgcttcttgg	0.632																																																	0													103.0	96.0	98.0					19																	2111747		2184	4281	6465	SO:0001819	synonymous_variant	0			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2682G>A	19.37:g.2111747C>T			O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.Q956	ENST00000345016.5	37	c.2868	CCDS42459.1	19																																																																																			AP3D1	-	pfam_BLV_receptor,pirsf_AP3_complex_dsu	ENSG00000065000		0.632	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	-	0.00	59	0	C			2111747	-1	tier1	-	no_errors	ENST00000355272	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.025	T
APBB1IP	54518	genome.wustl.edu	37	10	26825011	26825011	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:26825011C>A	ENST00000376236.4	+	10	1364	c.909C>A	c.(907-909)ttC>ttA	p.F303L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	303					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGAAAGTTTCTGTGGAACAT	0.353																																																	0													98.0	105.0	103.0					10																	26825011		2203	4300	6503	SO:0001583	missense	0			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.909C>A	10.37:g.26825011C>A	ENSP00000365411:p.Phe303Leu		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.F303L	ENST00000376236.4	37	c.909	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662146	0.67700	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.42513	0.97	5.61	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.978	T	0.53078	-0.8489	10	0.30078	T	0.28	.	9.6937	0.40145	0.0:0.7875:0.0:0.2125	.	303;303	B4E100;Q7Z5R6	.;AB1IP_HUMAN	L	303	ENSP00000365411:F303L	ENSP00000365411:F303L	F	+	3	2	APBB1IP	26865017	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.194000	0.42668	0.737000	0.32582	0.650000	0.86243	TTC	APBB1IP	-	NULL	ENSG00000077420		0.353	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	-	0.00	37	0	C	NM_019043		26825011	+1	tier1	-	no_errors	ENST00000376236	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	A
ARHGAP32	9743	genome.wustl.edu	37	11	128844131	128844131	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:128844131T>G	ENST00000310343.9	-	20	2918	c.2919A>C	c.(2917-2919)gaA>gaC	p.E973D	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E624D|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E624D|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E899D	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	973					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGGCTGGACTTCAGATTCAT	0.473																																																	0													185.0	194.0	191.0					11																	128844131		2201	4297	6498	SO:0001583	missense	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2919A>C	11.37:g.128844131T>G	ENSP00000310561:p.Glu973Asp		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E973D	ENST00000310343.9	37	c.2919	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	T	11.12	1.545081	0.27652	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.41	3.03	0.35002	.	0.430531	0.26605	N	0.023444	T	0.19685	0.0473	M	0.63843	1.955	0.20074	N	0.999936	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.19321	-1.0309	10	0.34782	T	0.22	.	7.2187	0.25975	0.0:0.0743:0.146:0.7797	.	907;973	Q86T64;A7KAX9	.;RHG32_HUMAN	D	973;624;899;907;624	ENSP00000310561:E973D;ENSP00000376425:E624D;ENSP00000432468:E899D;ENSP00000432862:E624D	ENSP00000310561:E973D	E	-	3	2	ARHGAP32	128349341	0.002000	0.14202	0.025000	0.17156	0.990000	0.78478	0.568000	0.23623	0.420000	0.25954	0.533000	0.62120	GAA	ARHGAP32	-	NULL	ENSG00000134909		0.473	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0.00	32	0	T	NM_014715		128844131	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	missense	47.37	20	18	SNP	0.317	G
BAIAP2	10458	genome.wustl.edu	37	17	79077394	79077394	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:79077394G>A	ENST00000321300.6	+	8	828	c.735G>A	c.(733-735)caG>caA	p.Q245Q	BAIAP2_ENST00000428708.2_Silent_p.Q245Q|BAIAP2_ENST00000321280.7_Silent_p.Q245Q|BAIAP2_ENST00000435091.3_Silent_p.Q245Q|BAIAP2_ENST00000575712.1_Silent_p.Q245Q|BAIAP2_ENST00000416299.2_Silent_p.Q108Q|BAIAP2_ENST00000575245.1_Silent_p.Q278Q|BAIAP2_ENST00000392411.3_Silent_p.Q167Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	245	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGCTCATGCAGCAGGTGGCCA	0.692																																																	0													18.0	19.0	19.0					17																	79077394		2194	4295	6489	SO:0001819	synonymous_variant	0			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.735G>A	17.37:g.79077394G>A			O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.Q245	ENST00000321300.6	37	c.735	CCDS11775.1	17																																																																																			BAIAP2	-	NULL	ENSG00000175866		0.692	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	-	0.00	12	0	G			79077394	+1	tier1	-	no_errors	ENST00000321300	ensembl	human	known	74_37	silent	36.84	12	7	SNP	1.000	A
BIRC6	57448	genome.wustl.edu	37	2	32695336	32695336	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:32695336C>T	ENST00000421745.2	+	31	6582	c.6448C>T	c.(6448-6450)Cag>Tag	p.Q2150*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2150					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCACCTCTTCAGCCACAGTT	0.333																																					Pancreas(94;175 1509 16028 18060 45422)												0													63.0	60.0	61.0					2																	32695336		2201	4293	6494	SO:0001587	stop_gained	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6448C>T	2.37:g.32695336C>T	ENSP00000393596:p.Gln2150*		Q9ULD1	Nonsense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.Q2150*	ENST00000421745.2	37	c.6448	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	48	14.488700	0.99797	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.2	5.2	0.72013	.	0.151747	0.46442	D	0.000282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.7847	0.91949	0.0:1.0:0.0:0.0	.	.	.	.	X	2150	.	ENSP00000393596:Q2150X	Q	+	1	0	BIRC6	32548840	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.798000	0.85924	2.442000	0.82660	0.585000	0.79938	CAG	BIRC6	-	NULL	ENSG00000115760		0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0.00	56	0	C	NM_016252		32695336	+1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	nonsense	8.06	57	5	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160289805	160289805	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:160289805T>G	ENST00000392783.2	-	9	1858	c.1363A>C	c.(1363-1365)Att>Ctt	p.I455L	BAZ2B_ENST00000343439.5_Missense_Mutation_p.I453L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.I453L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I455L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAAGCTGCAATAACCTTCTTC	0.368																																																	0													213.0	200.0	204.0					2																	160289805		1888	4116	6004	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1363A>C	2.37:g.160289805T>G	ENSP00000376534:p.Ile455Leu		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.I455L	ENST00000392783.2	37	c.1363	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097495	0.56075	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.87	5.87	0.94306	.	0.000000	0.37483	U	0.002072	D	0.88955	0.6578	L	0.51422	1.61	0.34464	D	0.702038	P;B;B;B;B	0.44090	0.826;0.194;0.194;0.194;0.123	P;B;B;B;B	0.57009	0.811;0.107;0.107;0.107;0.05	D	0.89999	0.4113	10	0.25106	T	0.35	-15.1724	11.3742	0.49717	0.1351:0.0:0.0:0.8649	.	455;259;453;453;455	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	L	453;455;455;453;392	ENSP00000376533:I453L;ENSP00000376534:I455L;ENSP00000348087:I455L;ENSP00000339670:I453L	ENSP00000339670:I453L	I	-	1	0	BAZ2B	159998051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.640000	0.54350	2.248000	0.74166	0.533000	0.62120	ATT	BAZ2B	-	NULL	ENSG00000123636		0.368	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0.00	65	0	T			160289805	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	26.39	53	19	SNP	1.000	G
BRAT1	221927	genome.wustl.edu	37	7	2579269	2579269	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:2579269G>A	ENST00000340611.4	-	12	1762	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	502					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCAGCACAGGGAACAGCTCTA	0.662																																																	0													39.0	35.0	36.0					7																	2579269		2199	4294	6493	SO:0001819	synonymous_variant	0			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1506C>T	7.37:g.2579269G>A			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.F502	ENST00000340611.4	37	c.1506	CCDS5334.1	7																																																																																			BRAT1	-	pfam_HEAT,superfamily_ARM-type_fold	ENSG00000106009		0.662	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	HGNC	protein_coding	OTTHUMT00000239305.2	-	0.00	67	0	G	NM_152743		2579269	-1	tier1	-	no_errors	ENST00000340611	ensembl	human	known	74_37	silent	6.72	125	9	SNP	0.538	A
BTN3A1	11119	genome.wustl.edu	37	6	26413697	26413697	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:26413697A>C	ENST00000289361.6	+	10	1687	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	BTN3A1_ENST00000414912.2_Missense_Mutation_p.K388T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GATGGGAATAAGTATCGGACT	0.478																																																	0													141.0	143.0	142.0					6																	26413697		2203	4300	6503	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1319A>C	6.37:g.26413697A>C	ENSP00000289361:p.Lys440Thr		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.K440T	ENST00000289361.6	37	c.1319	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	8.273	0.813912	0.16537	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.60548	0.18;0.18	2.31	1.12	0.20585	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.17534	0.0421	N	0.12527	0.23	0.09310	N	1	P;P	0.48589	0.802;0.912	B;B	0.41135	0.265;0.348	T	0.03829	-1.1000	9	0.52906	T	0.07	.	5.6531	0.17627	0.8487:0.0:0.1513:0.0	.	388;440	E9PGB4;O00481	.;BT3A1_HUMAN	T	440;388	ENSP00000289361:K440T;ENSP00000406667:K388T	ENSP00000289361:K440T	K	+	2	0	BTN3A1	26521676	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-5.592000	0.00111	0.309000	0.22966	0.496000	0.49642	AAG	BTN3A1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000026950		0.478	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	-	0.00	75	0	A			26413697	+1	tier1	-	no_errors	ENST00000289361	ensembl	human	known	74_37	missense	21.54	51	14	SNP	0.002	C
C10orf12	26148	genome.wustl.edu	37	10	98741294	98741294	+	Missense_Mutation	SNP	C	C	G	rs375341794		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:98741294C>G	ENST00000286067.2	+	1	254	c.147C>G	c.(145-147)aaC>aaG	p.N49K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	49			N -> S (in dbSNP:rs11188980).							NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TTATGGGGAACTCATCTAGAA	0.413																																																	0													83.0	80.0	81.0					10																	98741294		2203	4300	6503	SO:0001583	missense	0			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.147C>G	10.37:g.98741294C>G	ENSP00000286067:p.Asn49Lys		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.N49K	ENST00000286067.2	37	c.147	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	C	3.031	-0.199701	0.06219	.	.	ENSG00000155640	ENST00000286067	T	0.08896	3.04	5.51	1.45	0.22620	.	0.248098	0.27478	U	0.019190	T	0.07324	0.0185	L	0.32530	0.975	0.09310	N	1	B	0.26845	0.161	B	0.30495	0.116	T	0.28332	-1.0047	10	0.66056	D	0.02	-10.4019	8.8475	0.35179	0.0:0.609:0.0:0.391	.	49	Q8N655	CJ012_HUMAN	K	49	ENSP00000286067:N49K	ENSP00000286067:N49K	N	+	3	2	C10orf12	98731284	0.799000	0.28903	0.008000	0.14137	0.029000	0.11900	0.320000	0.19540	0.240000	0.21263	0.655000	0.94253	AAC	C10orf12	-	NULL	ENSG00000155640		0.413	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	-	0.00	30	0	C	NM_015652		98741294	+1	tier1	-	no_errors	ENST00000286067	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.002	G
C11orf40	143501	genome.wustl.edu	37	11	4592706	4592706	+	Missense_Mutation	SNP	T	T	C	rs80310454|rs141600462	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:4592706T>C	ENST00000307616.1	-	4	600	c.601A>G	c.(601-603)Atg>Gtg	p.M201V		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	201										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		acacgatccatacagtttttc	0.423																																																	0													85.0	75.0	78.0					11																	4592706		2130	4163	6293	SO:0001583	missense	0				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.601A>G	11.37:g.4592706T>C	ENSP00000302918:p.Met201Val			Missense_Mutation	SNP	NULL	p.M201V	ENST00000307616.1	37	c.601	CCDS31354.1	11	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.401760	0.01165	.	.	ENSG00000171987	ENST00000307616	T	0.48522	0.81	0.56	-0.676	0.11361	.	.	.	.	.	T	0.23572	0.0570	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.17198	-1.0377	8	0.87932	D	0	.	.	.	.	.	201	Q8WZ69	CK040_HUMAN	V	201	ENSP00000302918:M201V	ENSP00000302918:M201V	M	-	1	0	C11orf40	4549282	0.002000	0.14202	0.001000	0.08648	0.012000	0.07955	-0.229000	0.09098	-0.307000	0.08804	0.155000	0.16302	ATG	C11orf40	-	NULL	ENSG00000171987		0.423	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf40	HGNC	protein_coding	OTTHUMT00000383529.1		0.00	75	0	T	NM_144663		4592706	-1			no_errors	ENST00000307616	ensembl	human	known	74_37	missense	6.67	84	6	SNP	0.001	C
C14orf37	145407	genome.wustl.edu	37	14	58583052	58583052	+	Intron	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr14:58583052C>A	ENST00000267485.7	-	4	2026				C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37							integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTCAAACACCAGTGGCAAAA	0.348																																																	0																																										SO:0001627	intron_variant	0				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1831+15177G>T	14.37:g.58583052C>A			A8K8Z8|Q6P5Q1|Q86TY1	RNA	SNP	-	NULL	ENST00000267485.7	37	NULL	CCDS32089.1	14																																																																																			C14orf37	-	-	ENSG00000139971		0.348	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	-	0.00	41	0	C	NM_001001872		58583052	-1	tier1	-	no_errors	ENST00000334342	ensembl	human	known	74_37	rna	35.29	33	18	SNP	0.107	A
C18orf63	644041	genome.wustl.edu	37	18	72020590	72020590	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr18:72020590C>T	ENST00000579455.1	+	12	1417	c.1088C>T	c.(1087-1089)tCa>tTa	p.S363L		NM_001174123.1	NP_001167594.1	Q68DL7	CR063_HUMAN	chromosome 18 open reading frame 63	363										breast(1)	1						CTACCATGTTCAGTAGCAGTG	0.488																																																	0																																										SO:0001583	missense	0				CCDS54189.1	18q22.3	2012-10-24			ENSG00000206043	ENSG00000206043			40037	protein-coding gene	gene with protein product							Standard	NM_001174123		Approved	DKFZP781G0119	uc002llj.3	Q68DL7	OTTHUMG00000178987	ENST00000579455.1:c.1088C>T	18.37:g.72020590C>T	ENSP00000464330:p.Ser363Leu		A6NME8	Missense_Mutation	SNP	NULL	p.S363L	ENST00000579455.1	37	c.1088	CCDS54189.1	18	.	.	.	.	.	.	.	.	.	.	C	3.730	-0.055786	0.07362	.	.	ENSG00000206043	ENST00000382675	.	.	.	5.84	4.97	0.65823	.	0.282687	0.25503	N	0.030239	T	0.52773	0.1755	M	0.68317	2.08	0.09310	N	1	D	0.64830	0.994	P	0.54544	0.755	T	0.51482	-0.8700	9	0.72032	D	0.01	-5.4868	9.7692	0.40578	0.0:0.7848:0.1399:0.0753	.	363	Q68DL7	CR063_HUMAN	L	363	.	ENSP00000372122:S363L	S	+	2	0	C18orf63	70171570	0.000000	0.05858	0.036000	0.18154	0.019000	0.09904	0.252000	0.18278	1.485000	0.48380	0.655000	0.94253	TCA	C18orf63	-	NULL	ENSG00000206043		0.488	C18orf63-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	C18orf63	HGNC	protein_coding	OTTHUMT00000444246.2	-	0.00	68	0	C	NM_001174123		72020590	+1	tier1	-	no_errors	ENST00000579455	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.011	T
C1QB	713	genome.wustl.edu	37	1	22987762	22987762	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:22987762G>T	ENST00000314933.6	+	3	777	c.645G>T	c.(643-645)aaG>aaT	p.K215N	C1QB_ENST00000509305.1_Missense_Mutation_p.K213N	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	215	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGTCCTCAAGCTGGAGCAGG	0.582																																																	0													63.0	58.0	60.0					1																	22987762		2203	4300	6503	SO:0001583	missense	0			X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.645G>T	1.37:g.22987762G>T	ENSP00000313967:p.Lys215Asn		Q5T959|Q96H17	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.K215N	ENST00000314933.6	37	c.645	CCDS228.1	1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050110	0.36181	.	.	ENSG00000173369	ENST00000509305;ENST00000432749;ENST00000314933	T;T;T	0.75704	-0.96;-0.96;-0.96	4.67	3.76	0.43208	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.330083	0.31624	N	0.007332	T	0.79707	0.4492	L	0.58669	1.825	0.28683	N	0.905017	D	0.58268	0.982	P	0.59703	0.862	T	0.73594	-0.3933	9	.	.	.	.	11.6155	0.51088	0.087:0.0:0.913:0.0	.	215	P02746	C1QB_HUMAN	N	213;213;215	ENSP00000423689:K213N;ENSP00000404606:K213N;ENSP00000313967:K215N	.	K	+	3	2	C1QB	22860349	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	2.157000	0.42320	1.335000	0.45486	0.561000	0.74099	AAG	C1QB	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000173369		0.582	C1QB-201	KNOWN	basic|CCDS	protein_coding	C1QB	HGNC	protein_coding			0.00	28	0	G	NM_000491		22987762	+1			no_errors	ENST00000314933	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T
C20orf173	140873	genome.wustl.edu	37	20	34116711	34116711	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr20:34116711G>C	ENST00000246199.2	-	2	426	c.148C>G	c.(148-150)Cag>Gag	p.Q50E	C20orf173_ENST00000374345.4_Intron|C20orf173_ENST00000444723.1_Intron|RP3-477O4.5_ENST00000422009.1_RNA			Q96LM9	CT173_HUMAN	chromosome 20 open reading frame 173	50										haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						TTCATGCCCTGGAAACAGCAA	0.552																																																	0													43.0	40.0	41.0					20																	34116711		692	1591	2283	SO:0001583	missense	0			AL121586	CCDS46594.1	20q11.22	2012-10-30			ENSG00000125975	ENSG00000125975			16166	protein-coding gene	gene with protein product							Standard	NM_001145350		Approved	dJ477O4.4	uc010zvf.1	Q96LM9	OTTHUMG00000032340	ENST00000246199.2:c.148C>G	20.37:g.34116711G>C	ENSP00000246199:p.Gln50Glu		A6PVJ1|Q2M293|Q5JWS4|Q9H449	Missense_Mutation	SNP	NULL	p.Q50E	ENST00000246199.2	37	c.148		20	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858697	0.51376	.	.	ENSG00000125975	ENST00000246199	T	0.47869	0.83	4.74	2.33	0.28932	.	.	.	.	.	T	0.62392	0.2424	.	.	.	0.58432	D	0.999998	D	0.71674	0.998	D	0.71184	0.972	T	0.63739	-0.6569	8	0.72032	D	0.01	.	7.4473	0.27219	0.1019:0.0:0.7369:0.1613	.	50	Q96LM9	CT173_HUMAN	E	50	ENSP00000246199:Q50E	ENSP00000246199:Q50E	Q	-	1	0	C20orf173	33580125	0.975000	0.34042	0.981000	0.43875	0.586000	0.36452	0.523000	0.22925	1.180000	0.42898	0.563000	0.77884	CAG	C20orf173	-	NULL	ENSG00000125975		0.552	C20orf173-001	KNOWN	basic	protein_coding	C20orf173	HGNC	protein_coding	OTTHUMT00000078874.6	-	0.00	49	0	G	NM_001145350		34116711	-1	tier1	-	no_errors	ENST00000246199	ensembl	human	known	74_37	missense	44.62	36	29	SNP	0.675	C
C2CD2L	9854	genome.wustl.edu	37	11	118984833	118984833	+	Missense_Mutation	SNP	C	C	T	rs201072240	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:118984833C>T	ENST00000528586.1	+	9	981	c.911C>T	c.(910-912)gCg>gTg	p.A304V	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A557V			O14523	C2C2L_HUMAN	C2CD2-like	556						integral component of membrane (GO:0016021)		p.A557V(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CTGGGCTATGCGGCATCCCTG	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		18524	0.001		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	large_intestine(1)|prostate(1)											109.0	110.0	109.0					11																	118984833		2200	4295	6495	SO:0001583	missense	0			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.911C>T	11.37:g.118984833C>T	ENSP00000433600:p.Ala304Val		Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	superfamily_C2_dom	p.A557V	ENST00000528586.1	37	c.1670		11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.6	4.548263	0.86127	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.49432	0.78;0.78	5.11	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	M	0.61703	1.905	0.48135	D	0.999593	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59490	-0.7445	10	0.46703	T	0.11	1.7815	9.4646	0.38804	0.1429:0.7824:0.0:0.0747	.	556;557	O14523;O14523-2	C2C2L_HUMAN;.	V	557;304	ENSP00000338885:A557V;ENSP00000433600:A304V	ENSP00000338885:A557V	A	+	2	0	C2CD2L	118490043	0.996000	0.38824	0.983000	0.44433	0.991000	0.79684	3.316000	0.51960	0.813000	0.34350	0.655000	0.94253	GCG	C2CD2L	-	NULL	ENSG00000172375		0.612	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388199.2		0.00	32	0	C	NM_014807		118984833	+1			no_errors	ENST00000336702	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.992	T
CACNA1E	777	genome.wustl.edu	37	1	181701790	181701790	+	Silent	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:181701790C>A	ENST00000367573.2	+	20	2568	c.2568C>A	c.(2566-2568)ctC>ctA	p.L856L	CACNA1E_ENST00000367570.1_Silent_p.L856L|CACNA1E_ENST00000358338.5_Silent_p.L788L|CACNA1E_ENST00000526775.1_Silent_p.L837L|CACNA1E_ENST00000357570.5_Silent_p.L807L|CACNA1E_ENST00000360108.3_Silent_p.L837L|CACNA1E_ENST00000367567.4_Silent_p.L463L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	856					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGGGTCCCTCAAGGGGGATG	0.682																																																	0													11.0	14.0	13.0					1																	181701790		1898	4099	5997	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2568C>A	1.37:g.181701790C>A			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.L856	ENST00000367573.2	37	c.2568	CCDS55664.1	1																																																																																			CACNA1E	-	NULL	ENSG00000198216		0.682	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	55	0	C	NM_000721		181701790	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	7.25	64	5	SNP	0.987	A
CASP8AP2	9994	genome.wustl.edu	37	6	90567030	90567030	+	RNA	DEL	T	T	-	rs374599586		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:90567030delT	ENST00000551025.1	+	0	1853									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		tattttttaattttttttttt	0.328																																					Colon(187;1656 2025 17045 31481 39901)												0																																												0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90567030delT				RNA	DEL	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.328	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript			0.00	31	0	T	NM_001137667		90567030	+1	tier1		no_errors	ENST00000444163	ensembl	human	known	74_37	rna	18.92	30	7	DEL	0.228	-
CCDC159	126075	genome.wustl.edu	37	19	11461552	11461552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:11461552C>T	ENST00000588790.1	+	7	742	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	CCDC159_ENST00000458408.1_Nonsense_Mutation_p.Q99*			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	214										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCAGGGCCGGCAGGAGCTGTA	0.662																																																	0													11.0	14.0	13.0					19																	11461552		2000	4076	6076	SO:0001587	stop_gained	0			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.295C>T	19.37:g.11461552C>T	ENSP00000468232:p.Gln99*		B4DEG3|B4DWR8|B4E133|B7ZAM4	Nonsense_Mutation	SNP	NULL	p.Q99*	ENST00000588790.1	37	c.295	CCDS45976.1	19	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667475	0.88348	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.7393	13.9528	0.64129	0.0:1.0:0.0:0.0	.	.	.	.	X	99;214	.	ENSP00000390400:Q214X	Q	+	1	0	CCDC159	11322552	0.989000	0.36119	0.946000	0.38457	0.582000	0.36321	1.621000	0.36986	2.366000	0.80165	0.478000	0.44815	CAG	CCDC159	-	NULL	ENSG00000183401		0.662	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1		0.00	101	0	C	NM_001080503		11461552	+1			no_errors	ENST00000458408	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	0.973	T
CCDC175	729665	genome.wustl.edu	37	14	59998581	59998583	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr14:59998581_59998583delTTC	ENST00000537690.2	-	14	1724_1726	c.1669_1671delGAA	c.(1669-1671)gaadel	p.E557del	CCDC175_ENST00000281581.4_In_Frame_Del_p.E557del	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	557																	ACTCAACTAGTTCTTCTTCCTTT	0.286																																																	0																																										SO:0001651	inframe_deletion	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.1669_1671delGAA	14.37:g.59998587_59998589delTTC	ENSP00000453940:p.Glu557del		G3V5J7	In_Frame_Del	DEL	superfamily_Prefoldin	p.E557in_frame_del	ENST00000537690.2	37	c.1671_1669	CCDS53898.1	14																																																																																			CCDC175	-	NULL	ENSG00000151838		0.286	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1		0.00	69	0	TTC	NM_001164399		59998583	-1	tier1		no_errors	ENST00000281581	ensembl	human	known	74_37	in_frame_del	40.74	32	22	DEL	0.000:0.007:0.006	-
CDK19	23097	genome.wustl.edu	37	6	110948026	110948026	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:110948026T>G	ENST00000368911.3	-	8	992	c.813A>C	c.(811-813)agA>agC	p.R271S	CDK19_ENST00000413605.2_Missense_Mutation_p.R147S|CDK19_ENST00000323817.3_Missense_Mutation_p.R211S	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTGGCATCTTTCTAATATCTT	0.259																																																	0													126.0	122.0	123.0					6																	110948026		2203	4299	6502	SO:0001583	missense	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.813A>C	6.37:g.110948026T>G	ENSP00000357907:p.Arg271Ser		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.R271S	ENST00000368911.3	37	c.813	CCDS5085.1	6	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714411	0.48622	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.03	1.42	0.22433	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	0.17662	0.0424	N	0.05078	-0.115	0.80722	D	1	B;B	0.33583	0.418;0.201	B;B	0.36418	0.224;0.217	T	0.03619	-1.1019	10	0.11182	T	0.66	-20.9937	8.6492	0.34025	0.0:0.3121:0.0:0.6879	.	147;271	B4DUB1;Q9BWU1	.;CDK19_HUMAN	S	271;211;210;147;211	ENSP00000357907:R271S;ENSP00000317665:R211S;ENSP00000410604:R147S;ENSP00000415621:R211S	ENSP00000317665:R211S	R	-	3	2	CDK19	111054719	0.920000	0.31207	1.000000	0.80357	0.996000	0.88848	-0.023000	0.12456	0.753000	0.32945	0.374000	0.22700	AGA	CDK19	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000155111		0.259	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	-	0.00	39	0	T	NM_015076		110948026	-1	tier1	-	no_errors	ENST00000368911	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.999	G
CDKN2A	1029	genome.wustl.edu	37	9	21971016	21971016	+	Silent	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:21971016G>T	ENST00000304494.5	-	2	612	c.342C>A	c.(340-342)ccC>ccA	p.P114P	CDKN2A_ENST00000494262.1_Silent_p.P63P|CDKN2A_ENST00000498124.1_Silent_p.P114P|CDKN2A_ENST00000497750.1_Silent_p.P63P|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R129S|CDKN2A_ENST00000479692.2_Silent_p.P63P|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R129S|CDKN2A_ENST00000579122.1_Silent_p.P114P|CDKN2A_ENST00000446177.1_Silent_p.P114P|CDKN2A_ENST00000578845.2_Silent_p.P63P|CDKN2A_ENST00000498628.2_Silent_p.P63P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R170S	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|P -> S (found in some patients with melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.P114L(2)|p.H83fs*2(2)|p.0(1)|p.A68fs*3(1)|p.P114P(1)|p.V115fs*11(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGGTCCACGGGCAGACGGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1367	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(3)|Substitution - Missense(2)|Insertion - Frameshift(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(283)|skin(176)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|pleura(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(31)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											21.0	23.0	22.0					9																	21971016		2200	4298	6498	SO:0001819	synonymous_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.342C>A	9.37:g.21971016G>T			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	pfam_Cyclin_kinase-Inhib_2A	p.R170S	ENST00000304494.5	37	c.508	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628209	0.46944	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	T;T	0.76578	-1.03;-0.98	5.93	1.92	0.25849	.	0.481200	0.15576	N	0.255194	T	0.65668	0.2713	.	.	.	0.26896	N	0.967219	P	0.44090	0.826	B	0.43301	0.415	T	0.54146	-0.8337	9	0.18710	T	0.47	-14.6853	8.4344	0.32778	0.1386:0.2241:0.6373:0.0	.	170	Q8N726	CD2A2_HUMAN	S	170;129	ENSP00000355153:R170S;ENSP00000432664:R129S	ENSP00000355153:R170S	R	-	1	0	CDKN2A	21961016	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.451000	0.35145	0.371000	0.24564	0.655000	0.94253	CGT	CDKN2A	-	NULL	ENSG00000147889		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0.00	61	0	G	NM_000077		21971016	-1			no_errors	ENST00000361570	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
CEP112	201134	genome.wustl.edu	37	17	63632093	63632093	+	Splice_Site	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:63632093C>A	ENST00000392769.2	-	27	3083		c.e27-1		CEP112_ENST00000317442.8_Splice_Site|CTD-2535L24.2_ENST00000577662.1_Splice_Site|CEP112_ENST00000537949.1_Splice_Site|CEP112_ENST00000541355.1_Splice_Site|CEP112_ENST00000535342.2_Splice_Site	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa						receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GTGCAGTTACCTGTAAACCAA	0.408																																																	0													97.0	77.0	84.0					17																	63632093		2203	4299	6502	SO:0001630	splice_region_variant	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2865-1G>T	17.37:g.63632093C>A			Q6PIB5|Q8NCR4|Q8NFR4	Splice_Site	SNP	-	e26-1	ENST00000392769.2	37	c.2865-1	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010478	0.54361	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000317442;ENST00000541355;ENST00000537949	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7629	0.91860	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP112	61062555	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	4.728000	0.62000	2.941000	0.99782	0.655000	0.94253	.	CEP112	-	-	ENSG00000154240		0.408	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1		0.00	45	0	C	NM_145036	Intron	63632093	-1			no_errors	ENST00000392769	ensembl	human	known	74_37	splice_site	5.71	66	4	SNP	1.000	A
CEP170B	283638	genome.wustl.edu	37	14	105349067	105349067	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr14:105349067G>A	ENST00000414716.3	+	7	703	c.475G>A	c.(475-477)Gca>Aca	p.A159T	CEP170B_ENST00000453495.1_Missense_Mutation_p.A159T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A89T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A89T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	159						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CTCCACAGAGGCAGCCTCTTA	0.662																																																	0													32.0	36.0	35.0					14																	105349067		2007	4166	6173	SO:0001583	missense	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.475G>A	14.37:g.105349067G>A	ENSP00000404151:p.Ala159Thr		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A159T	ENST00000414716.3	37	c.475	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	G	9.661	1.144242	0.21205	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	3.86	-1.7	0.08159	.	0.738173	0.12356	N	0.476081	T	0.14227	0.0344	L	0.28344	0.845	0.28539	N	0.912183	B;B;B	0.14012	0.008;0.009;0.003	B;B;B	0.13407	0.009;0.009;0.004	T	0.26018	-1.0115	10	0.20519	T	0.43	-17.4312	0.6642	0.00848	0.42:0.1783:0.2222:0.1795	.	159;159;89	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	T	89;159;159;89	ENSP00000451249:A89T;ENSP00000404151:A159T;ENSP00000407238:A159T;ENSP00000415006:A89T	ENSP00000404151:A159T	A	+	1	0	KIAA0284	104420112	0.000000	0.05858	0.418000	0.26571	0.065000	0.16274	-0.663000	0.05299	-0.214000	0.10078	-0.379000	0.06801	GCA	CEP170B	-	NULL	ENSG00000099814		0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2		0.00	87	0	G	NM_001112726		105349067	+1			no_errors	ENST00000453495	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.815	A
CHAMP1	283489	genome.wustl.edu	37	13	115090302	115090302	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:115090302G>T	ENST00000361283.1	+	3	1294	c.985G>T	c.(985-987)Gca>Tca	p.A329S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	329	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A329T(1)									CAATCCTTCAGCATCATCAGG	0.557																																																	1	Substitution - Missense(1)	prostate(1)											92.0	89.0	90.0					13																	115090302		2203	4300	6503	SO:0001583	missense	0			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.985G>T	13.37:g.115090302G>T	ENSP00000354730:p.Ala329Ser		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A329S	ENST00000361283.1	37	c.985	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	G	0.896	-0.723919	0.03158	.	.	ENSG00000198824	ENST00000361283	T	0.01252	5.1	5.92	5.07	0.68467	.	0.479462	0.19377	N	0.115746	T	0.02012	0.0063	L	0.47716	1.5	0.09310	N	1	B	0.19200	0.034	B	0.24394	0.053	T	0.44019	-0.9355	9	.	.	.	-8.9074	11.6433	0.51246	0.0674:0.1234:0.8091:0.0	.	329	Q96JM3	ZN828_HUMAN	S	329	ENSP00000354730:A329S	.	A	+	1	0	ZNF828	114108404	0.051000	0.20477	0.092000	0.20876	0.122000	0.20287	2.409000	0.44583	2.805000	0.96524	0.655000	0.94253	GCA	CHAMP1	-	NULL	ENSG00000198824		0.557	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	HGNC	protein_coding	OTTHUMT00000045977.2		0.00	33	0	G	NM_032436		115090302	+1			no_errors	ENST00000361283	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.012	T
CHRM2	1129	genome.wustl.edu	37	7	136700024	136700024	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:136700024A>T	ENST00000445907.2	+	3	940	c.412A>T	c.(412-414)Aaa>Taa	p.K138*	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Nonsense_Mutation_p.K138*|CHRM2_ENST00000397608.3_Nonsense_Mutation_p.K138*|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Nonsense_Mutation_p.K138*|CHRM2_ENST00000453373.1_Nonsense_Mutation_p.K138*|CHRM2_ENST00000402486.3_Nonsense_Mutation_p.K138*	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	138					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCGGACCACAAAAATGGCAGG	0.493																																																	0													84.0	83.0	83.0					7																	136700024		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.412A>T	7.37:g.136700024A>T	ENSP00000399745:p.Lys138*		Q4VBK6|Q9P1X9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.K138*	ENST00000445907.2	37	c.412	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	A	37	6.197522	0.97367	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-3.8625	15.8611	0.79021	1.0:0.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000319984:K138X	K	+	1	0	CHRM2	136350564	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.281000	0.95811	2.145000	0.66743	0.529000	0.55759	AAA	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181072		0.493	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1		0.00	24	0	A			136700024	+1			no_errors	ENST00000320658	ensembl	human	known	74_37	nonsense	8.00	23	2	SNP	0.999	T
CLCA3P	9629	genome.wustl.edu	37	1	87120149	87120149	+	RNA	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:87120149A>G	ENST00000456587.1	-	0	41				CLCA3P_ENST00000466454.1_RNA																							AGATTTTGATAAAGCTGCTTT	0.323																																																	0																																												0																															1.37:g.87120149A>G				RNA	SNP	-	NULL	ENST00000456587.1	37	NULL		1																																																																																			CLCA3P	-	-	ENSG00000153923		0.323	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	CLCA3P	HGNC	antisense	OTTHUMT00000028263.1	-	0.00	66	0	A			87120149	+1	tier1	-	no_errors	ENST00000466454	ensembl	human	known	74_37	rna	7.02	53	4	SNP	0.130	G
CLDN18	51208	genome.wustl.edu	37	3	137742603	137742603	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:137742603C>T	ENST00000183605.5	+	2	550	c.324C>T	c.(322-324)agC>agT	p.S108S	CLDN18_ENST00000343735.4_Silent_p.S108S	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	108					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCATTGGCAGCATGGAGGACT	0.547																																																	0													116.0	92.0	100.0					3																	137742603		2203	4300	6503	SO:0001819	synonymous_variant	0			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.324C>T	3.37:g.137742603C>T			A5PL21|Q96PH4	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.S108	ENST00000183605.5	37	c.324	CCDS3095.1	3																																																																																			CLDN18	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18	ENSG00000066405		0.547	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357199.2	-	0.00	29	0	C	NM_001002026		137742603	+1	tier1	-	no_errors	ENST00000183605	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.994	T
CNRIP1	25927	genome.wustl.edu	37	2	68544421	68544421	+	Silent	SNP	A	A	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:68544421A>T	ENST00000263655.3	-	2	803	c.198T>A	c.(196-198)ggT>ggA	p.G66G	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Silent_p.G66G|CNRIP1_ENST00000409559.3_Silent_p.G66G	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	66										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						GGACAAGCACACCACCAATGG	0.473																																																	0													122.0	111.0	115.0					2																	68544421		2203	4300	6503	SO:0001819	synonymous_variant	0			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.198T>A	2.37:g.68544421A>T			B2R4D0|Q49AN4|Q9UFZ0	Silent	SNP	NULL	p.G66	ENST00000263655.3	37	c.198	CCDS1886.1	2																																																																																			CNRIP1	-	NULL	ENSG00000119865		0.473	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNRIP1	HGNC	protein_coding	OTTHUMT00000251758.1	-	0.00	70	0	A	NM_015463		68544421	-1	tier1	-	no_errors	ENST00000263655	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.984	T
CNNM4	26504	genome.wustl.edu	37	2	97427930	97427930	+	Silent	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:97427930G>T	ENST00000377075.2	+	1	1292	c.1194G>T	c.(1192-1194)tcG>tcT	p.S398S		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	398	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.S398S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACACCATGTCGGAGATAATGG	0.502																																																	1	Substitution - coding silent(1)	lung(1)											114.0	103.0	107.0					2																	97427930		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1194G>T	2.37:g.97427930G>T			B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S398	ENST00000377075.2	37	c.1194	CCDS2024.2	2																																																																																			CNNM4	-	NULL	ENSG00000158158		0.502	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	-	0.00	51	0	G	NM_020184		97427930	+1	tier1	-	no_errors	ENST00000377075	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.281	T
CNTN5	53942	genome.wustl.edu	37	11	99715909	99715909	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:99715909A>C	ENST00000524871.1	+	6	782	c.492A>C	c.(490-492)gaA>gaC	p.E164D	CNTN5_ENST00000528682.1_Missense_Mutation_p.E164D|CNTN5_ENST00000527185.1_Missense_Mutation_p.E164D|CNTN5_ENST00000418526.2_Missense_Mutation_p.E90D|CNTN5_ENST00000279463.3_Missense_Mutation_p.E164D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATCCAAGTGAAGCAAAGGATT	0.383																																																	0													131.0	124.0	126.0					11																	99715909		1855	4105	5960	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.492A>C	11.37:g.99715909A>C	ENSP00000435637:p.Glu164Asp		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E164D	ENST00000524871.1	37	c.492	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659809	0.67586	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.53	1.96	0.26148	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.173798	0.49305	D	0.000151	T	0.65217	0.2670	L	0.28115	0.83	0.35030	D	0.758748	D;D;D	0.61080	0.961;0.983;0.989	P;P;P	0.60886	0.751;0.754;0.88	T	0.71073	-0.4698	10	0.72032	D	0.01	.	9.2231	0.37388	0.6287:0.0:0.3713:0.0	.	164;90;164	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	164;164;164;90;164	ENSP00000433575:E164D;ENSP00000436185:E164D;ENSP00000435637:E164D;ENSP00000393229:E90D;ENSP00000279463:E164D	ENSP00000279463:E164D	E	+	3	2	CNTN5	99221119	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	3.460000	0.53028	0.082000	0.17018	-0.256000	0.11100	GAA	CNTN5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0.00	53	0	A	NM_014361		99715909	+1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	40.35	34	23	SNP	0.472	C
COG5	10466	genome.wustl.edu	37	7	106888946	106888947	+	Splice_Site	INS	-	-	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:106888946_106888947insA	ENST00000347053.3	-	16	1830		c.e16-2		COG5_ENST00000393603.2_Splice_Site|COG5_ENST00000297135.3_Splice_Site	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5						intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATGAATAGCCTaaaaaaaaaaa	0.351																																																	0																																										SO:0001630	splice_region_variant	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1780-2->T	7.37:g.106888957_106888957dupA			A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Splice_Site	INS	-	e17-2	ENST00000347053.3	37	c.1843-3_1843-2	CCDS5743.1	7																																																																																			COG5	-	-	ENSG00000164597		0.351	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4		0.00	27	0	-		Intron	106888947	-1	tier1		no_errors	ENST00000297135	ensembl	human	known	74_37	splice_site_ins	10.00	27	3	INS	0.987:0.017	A
COL19A1	1310	genome.wustl.edu	37	6	70894771	70894771	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:70894771G>T	ENST00000322773.4	+	46	2922	c.2820G>T	c.(2818-2820)atG>atT	p.M940I	COL19A1_ENST00000393344.1_Missense_Mutation_p.M562I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	940	Collagen-like 10.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGGCATCATGGGTAAGCCTG	0.403																																																	0													178.0	168.0	171.0					6																	70894771		2203	4300	6503	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2820G>T	6.37:g.70894771G>T	ENSP00000316030:p.Met940Ile		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.M940I	ENST00000322773.4	37	c.2820	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004685	0.07773	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.82803	-1.65;-1.65	6.17	4.41	0.53225	.	0.254563	0.42420	D	0.000711	T	0.49270	0.1547	N	0.04820	-0.15	0.36213	D	0.851494	B	0.10296	0.003	B	0.13407	0.009	T	0.39583	-0.9607	10	0.33141	T	0.24	.	11.3637	0.49660	0.1388:0.0:0.8612:0.0	.	940	Q14993	COJA1_HUMAN	I	940;562;15	ENSP00000316030:M940I;ENSP00000377013:M562I	ENSP00000316030:M940I	M	+	3	0	COL19A1	70951492	0.998000	0.40836	1.000000	0.80357	0.046000	0.14306	2.027000	0.41078	0.951000	0.37770	-0.136000	0.14681	ATG	COL19A1	-	pfam_Collagen	ENSG00000082293		0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0.00	89	0	G			70894771	+1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.930	T
COL4A6	1288	genome.wustl.edu	37	X	107413219	107413219	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:107413219C>A	ENST00000372216.4	-	36	3624	c.3524G>T	c.(3523-3525)gGa>gTa	p.G1175V	COL4A6_ENST00000334504.7_Missense_Mutation_p.G1174V|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1175V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1175	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCCATTCAGTCCATGTAAACC	0.537									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													49.0	36.0	40.0					X																	107413219		2201	4295	6496	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3524G>T	X.37:g.107413219C>A	ENSP00000361290:p.Gly1175Val		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1175V	ENST00000372216.4	37	c.3524	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328169	0.60743	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389	D;D;D	0.99637	-6.29;-6.29;-6.29	4.43	4.43	0.53597	.	0.000000	0.41294	D	0.000908	D	0.99813	0.9918	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96561	0.9415	10	0.87932	D	0	.	17.21	0.86928	0.0:1.0:0.0:0.0	.	1175;1174	Q14031;Q14031-2	CO4A6_HUMAN;.	V	1175;1174;1175;1174	ENSP00000361290:G1175V;ENSP00000334733:G1174V;ENSP00000378340:G1175V	ENSP00000334733:G1174V	G	-	2	0	COL4A6	107299875	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.649000	0.74364	2.454000	0.82982	0.600000	0.82982	GGA	COL4A6	-	pfam_Collagen	ENSG00000197565		0.537	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	-	0.00	49	0	C			107413219	-1	tier1	-	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	63.64	24	42	SNP	1.000	A
COL7A1	1294	genome.wustl.edu	37	3	48623646	48623646	+	Missense_Mutation	SNP	G	G	A	rs552219889		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:48623646G>A	ENST00000328333.8	-	27	3691	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	COL7A1_ENST00000454817.1_Missense_Mutation_p.A1195V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1195	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTGGGTCCGCTCCAGCCAT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18008	0.001		0.0	False		,,,				2504	0.0																0													94.0	107.0	103.0					3																	48623646		2203	4300	6503	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3584C>T	3.37:g.48623646G>A	ENSP00000332371:p.Ala1195Val		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.A1195V	ENST00000328333.8	37	c.3584	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361941	0.41801	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.78003	-1.14;-1.14	4.76	4.76	0.60689	von Willebrand factor, type A (2);	0.353869	0.20385	N	0.093367	D	0.82756	0.5106	L	0.32530	0.975	0.47621	D	0.999475	D	0.89917	1.0	D	0.91635	0.999	D	0.84139	0.0416	10	0.66056	D	0.02	.	16.4849	0.84182	0.0:0.0:1.0:0.0	.	1195	Q02388	CO7A1_HUMAN	V	1195	ENSP00000332371:A1195V;ENSP00000412569:A1195V	ENSP00000332371:A1195V	A	-	2	0	COL7A1	48598650	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	4.898000	0.63238	2.636000	0.89361	0.561000	0.74099	GCG	COL7A1	-	pfam_VWF_A,pfscan_VWF_A	ENSG00000114270		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	-	0.00	59	0	G	NM_000094		48623646	-1	tier1	-	no_errors	ENST00000328333	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A
COX7C	1350	genome.wustl.edu	37	5	85913914	85913914	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:85913914C>T	ENST00000509578.1	+	1	142	c.42C>T	c.(40-42)gtC>gtT	p.V14V	COX7C_ENST00000247655.3_Silent_p.V14V|MIR3607_ENST00000362392.1_RNA|COX7C_ENST00000515763.1_Silent_p.V14V|COX7C_ENST00000513124.1_Intron			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	14					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		CCTCTGTGGTCCGTAGGAGCC	0.607																																																	0													51.0	57.0	55.0					5																	85913914		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.42C>T	5.37:g.85913914C>T			Q6NR81	Silent	SNP	pfam_COX7C/Cox8,superfamily_COX7C/Cox8	p.V14	ENST00000509578.1	37	c.42	CCDS4063.1	5																																																																																			COX7C	-	pfam_COX7C/Cox8	ENSG00000127184		0.607	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	COX7C	HGNC	protein_coding	OTTHUMT00000369746.1	-	0.00	75	0	C	NM_001867		85913914	+1	tier1	-	no_errors	ENST00000247655	ensembl	human	known	74_37	silent	12.28	50	7	SNP	0.999	T
CPA4	51200	genome.wustl.edu	37	7	129933071	129933071	+	Silent	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:129933071C>A	ENST00000222482.4	+	1	79	c.51C>A	c.(49-51)ggC>ggA	p.G17G	CPA4_ENST00000493259.1_5'UTR|CPA4_ENST00000445470.2_Silent_p.G17G	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	17					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GCATCTGTGGCCAAGAAAAAT	0.413																																																	0													125.0	122.0	123.0					7																	129933071		2203	4300	6503	SO:0001819	synonymous_variant	0			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.51C>A	7.37:g.129933071C>A			B7Z576|Q86UY9	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.G17	ENST00000222482.4	37	c.51	CCDS5818.1	7																																																																																			CPA4	-	NULL	ENSG00000128510		0.413	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA4	HGNC	protein_coding	OTTHUMT00000349725.1	-	0.00	78	0	C	NM_016352		129933071	+1	tier1	-	no_errors	ENST00000222482	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.114	A
CSAD	51380	genome.wustl.edu	37	12	53567224	53567224	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:53567224C>A	ENST00000444623.1	-	4	298	c.31G>T	c.(31-33)Gct>Tct	p.A11S	CSAD_ENST00000267085.4_Missense_Mutation_p.A38S|CSAD_ENST00000379846.1_Missense_Mutation_p.A11S|CSAD_ENST00000453446.2_Missense_Mutation_p.A11S|CSAD_ENST00000542115.1_Missense_Mutation_p.A11S|CSAD_ENST00000379843.3_Missense_Mutation_p.A11S|CSAD_ENST00000491654.1_5'UTR	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	11					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GGGTCCCCAGCAAGGGAGGGG	0.587																																					Ovarian(109;252 1546 16882 28524 44645)												0													77.0	71.0	73.0					12																	53567224		2203	4300	6503	SO:0001583	missense	0			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.31G>T	12.37:g.53567224C>A	ENSP00000415485:p.Ala11Ser		A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.A38S	ENST00000444623.1	37	c.112	CCDS58235.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.982|3.982	-0.006289|-0.006289	0.07773|0.07773	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000544139;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000548698;ENST00000542115;ENST00000437073;ENST00000424990|ENST00000379850	T;T;T;T;T;T;T;T;T|.	0.25414|.	2.45;2.87;2.45;2.89;2.89;1.8;2.29;2.28;2.29|.	5.08|5.08	4.19|4.19	0.49359|0.49359	.|.	0.681670|.	0.15058|.	N|.	0.282893|.	T|T	0.21062|0.21062	0.0507|0.0507	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.15473|.	0.012;0.003;0.002;0.013|.	B;B;B;B|.	0.21917|.	0.019;0.027;0.012;0.037|.	T|T	0.18241|0.18241	-1.0343|-1.0343	10|5	0.09084|.	T|.	0.74|.	-6.1194|-6.1194	11.3183|11.3183	0.49405|0.49405	0.0:0.9144:0.0:0.0855|0.0:0.9144:0.0:0.0855	.|.	11;38;11;11|.	B4DL84;Q9Y600-3;Q9Y600;Q9Y600-2|.	.;.;CSAD_HUMAN;.|.	S|F	100;11;38;11;11;11;11;11;11;11;11;11|36	ENSP00000369172:A11S;ENSP00000267085:A38S;ENSP00000369175:A11S;ENSP00000415485:A11S;ENSP00000410648:A11S;ENSP00000449373:A11S;ENSP00000439419:A11S;ENSP00000415314:A11S;ENSP00000401078:A11S|.	ENSP00000267085:A38S|.	A|C	-|-	1|2	0|0	CSAD|CSAD	51853491|51853491	0.619000|0.619000	0.27059|0.27059	0.270000|0.270000	0.24601|0.24601	0.014000|0.014000	0.08584|0.08584	0.940000|0.940000	0.28992|0.28992	1.530000|1.530000	0.49136|0.49136	-0.150000|-0.150000	0.13652|0.13652	GCT|TGC	CSAD	-	NULL	ENSG00000139631		0.587	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	CSAD	HGNC	protein_coding	OTTHUMT00000343697.1	-	0.00	44	0	C	NM_015989		53567224	-1	tier1	-	no_errors	ENST00000267085	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.253	A
CTNND2	1501	genome.wustl.edu	37	5	11732320	11732320	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:11732320G>A	ENST00000304623.8	-	2	291	c.102C>T	c.(100-102)ggC>ggT	p.G34G	CTNND2_ENST00000359640.2_Silent_p.G34G|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	34					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGTGTTTAAGCCGGGGCTCA	0.498																																																	0													134.0	133.0	133.0					5																	11732320		2203	4300	6503	SO:0001819	synonymous_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.102C>T	5.37:g.11732320G>A			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G34	ENST00000304623.8	37	c.102	CCDS3881.1	5																																																																																			CTNND2	-	NULL	ENSG00000169862		0.498	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0.00	80	0	G	NM_001332		11732320	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	silent	8.42	87	8	SNP	0.998	A
CUBN	8029	genome.wustl.edu	37	10	16980995	16980995	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:16980995T>G	ENST00000377833.4	-	38	5765	c.5700A>C	c.(5698-5700)gaA>gaC	p.E1900D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1900	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGTATTTCTTCTATGTCCA	0.353																																																	0													117.0	108.0	111.0					10																	16980995		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5700A>C	10.37:g.16980995T>G	ENSP00000367064:p.Glu1900Asp		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.E1900D	ENST00000377833.4	37	c.5700	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220532	0.58560	.	.	ENSG00000107611	ENST00000377833	T	0.43688	0.94	5.36	2.89	0.33648	CUB (5);	0.000000	0.47455	D	0.000231	T	0.64549	0.2608	M	0.88241	2.94	0.80722	D	1	D	0.63880	0.993	D	0.66084	0.941	T	0.66228	-0.5976	10	0.66056	D	0.02	.	9.5073	0.39056	0.0:0.1525:0.0:0.8475	.	1900	O60494	CUBN_HUMAN	D	1900	ENSP00000367064:E1900D	ENSP00000367064:E1900D	E	-	3	2	CUBN	17021001	0.954000	0.32549	0.478000	0.27316	0.764000	0.43329	1.657000	0.37366	0.382000	0.24878	0.477000	0.44152	GAA	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.353	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	103	0	T	NM_001081		16980995	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	24.44	102	33	SNP	0.753	G
CUX1	1523	genome.wustl.edu	37	7	101556679	101556679	+	Intron	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:101556679G>T	ENST00000292535.7	+	2	68				CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000360264.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000560541.1_3'UTR	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAGCAGCAAGTTGCCGCAGG	0.662																																																	0																																										SO:0001627	intron_variant	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.31-2716G>T	7.37:g.101556679G>T			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	RNA	SNP	-	NULL	ENST00000292535.7	37	NULL	CCDS5721.1	7																																																																																			CUX1	-	-	ENSG00000257923		0.662	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	-	0.00	105	0	G	NM_001913		101556679	+1	tier1	-	no_errors	ENST00000560541	ensembl	human	known	74_37	rna	9.38	116	12	SNP	0.007	T
CXorf67	340602	genome.wustl.edu	37	X	51150037	51150037	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:51150037G>A	ENST00000342995.2	+	1	271	c.169G>A	c.(169-171)Ggc>Agc	p.G57S				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	57										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TCCCTCGGGCGGCGCCGCCCT	0.652																																																	0													32.0	29.0	30.0					X																	51150037		2202	4300	6502	SO:0001583	missense	0			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.169G>A	X.37:g.51150037G>A	ENSP00000342680:p.Gly57Ser			Missense_Mutation	SNP	NULL	p.G57S	ENST00000342995.2	37	c.169		X	.	.	.	.	.	.	.	.	.	.	G	7.249	0.602872	0.13939	.	.	ENSG00000187690	ENST00000342995	T	0.71341	-0.56	2.78	-1.89	0.07689	.	2.152600	0.02013	N	0.047184	T	0.49830	0.1580	.	.	.	0.09310	N	1	B	0.22983	0.078	B	0.14578	0.011	T	0.29941	-0.9995	9	0.13853	T	0.58	-6.349	6.657	0.22992	0.3145:0.0:0.6855:0.0	.	57	Q86X51	CX067_HUMAN	S	57	ENSP00000342680:G57S	ENSP00000342680:G57S	G	+	1	0	CXorf67	51166777	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.123000	0.10611	-0.409000	0.07553	-0.711000	0.03637	GGC	CXorf67	-	NULL	ENSG00000187690		0.652	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	CXorf67	HGNC	protein_coding		-	0.00	27	0	G	NM_203407		51150037	+1	tier1	-	no_errors	ENST00000342995	ensembl	human	known	74_37	missense	82.22	8	37	SNP	0.000	A
CYBRD1	79901	genome.wustl.edu	37	2	172409989	172409989	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:172409989C>T	ENST00000321348.4	+	3	734	c.536C>T	c.(535-537)aCa>aTa	p.T179I	CYBRD1_ENST00000375252.3_Silent_p.D109D|CYBRD1_ENST00000409484.1_Missense_Mutation_p.T121I	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	179	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						ATGGGATTGACAGAGAAACTG	0.368																																																	0													100.0	88.0	92.0					2																	172409989		2203	4300	6503	SO:0001583	missense	0			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.536C>T	2.37:g.172409989C>T	ENSP00000319141:p.Thr179Ile		B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.T179I	ENST00000321348.4	37	c.536	CCDS2244.1	2	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859583	0.71834	.	.	ENSG00000071967	ENST00000409484;ENST00000321348;ENST00000445146	T;T;T	0.78816	-1.21;-0.98;-0.98	5.78	5.78	0.91487	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (1);	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89387	0.3686	9	0.62326	D	0.03	-19.2304	19.6088	0.95594	0.0:1.0:0.0:0.0	.	179	Q53TN4	CYBR1_HUMAN	I	121;179;140	ENSP00000386739:T121I;ENSP00000319141:T179I;ENSP00000402242:T140I	ENSP00000319141:T179I	T	+	2	0	CYBRD1	172118235	1.000000	0.71417	0.990000	0.47175	0.377000	0.30045	6.625000	0.74248	2.734000	0.93682	0.563000	0.77884	ACA	CYBRD1	-	pfam_Cyt_b561_euk,pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000071967		0.368	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBRD1	HGNC	protein_coding	OTTHUMT00000255344.2	-	0.00	59	0	C	NM_024843		172409989	+1	tier1	-	no_errors	ENST00000321348	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T
CYP2G1P	22952	genome.wustl.edu	37	19	41399821	41399821	+	3'UTR	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:41399821G>T	ENST00000601627.1	+	0	354				CYP2G1P_ENST00000252909.4_RNA																							CGGGACTTCGGGATGGGAAAG	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000601627.1:c.*154G>T	19.37:g.41399821G>T				RNA	SNP	-	NULL	ENST00000601627.1	37	NULL		19																																																																																			CYP2G1P	-	-	ENSG00000130612		0.562	CTC-490E21.12-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	CYP2G1P	HGNC	protein_coding	OTTHUMT00000463921.1	-	0.00	28	0	G			41399821	+1	tier1	-	no_errors	ENST00000252909	ensembl	human	known	74_37	rna	25.81	23	8	SNP	1.000	T
DACT1	51339	genome.wustl.edu	37	14	59113546	59113546	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr14:59113546C>T	ENST00000335867.4	+	4	2229	c.2205C>T	c.(2203-2205)caC>caT	p.H735H	DACT1_ENST00000556859.1_Silent_p.H454H|DACT1_ENST00000541264.2_Silent_p.H454H|DACT1_ENST00000395153.3_Silent_p.H698H			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	735					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCTGTTCCACTCCACCGTGG	0.652																																																	0													87.0	83.0	84.0					14																	59113546		2203	4300	6503	SO:0001819	synonymous_variant	0			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2205C>T	14.37:g.59113546C>T			A8MYJ2|Q86TY0	Silent	SNP	NULL	p.H735	ENST00000335867.4	37	c.2205	CCDS9736.1	14																																																																																			DACT1	-	NULL	ENSG00000165617		0.652	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	-	0.00	63	0	C	NM_016651		59113546	+1	tier1	-	no_errors	ENST00000335867	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T
DCAF7	10238	genome.wustl.edu	37	17	61666411	61666411	+	Silent	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:61666411C>A	ENST00000310827.4	+	8	1123	c.906C>A	c.(904-906)gcC>gcA	p.A302A	DCAF7_ENST00000415273.2_Silent_p.A102A|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	302					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TGCCCCGAGCCATTGAGGACC	0.542																																																	0													68.0	67.0	67.0					17																	61666411		2023	4184	6207	SO:0001819	synonymous_variant	0			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.906C>A	17.37:g.61666411C>A			B4E039|D3DU14|O15491|Q9DAE4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A302	ENST00000310827.4	37	c.906		17																																																																																			DCAF7	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000136485		0.542	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		-	0.00	44	0	C	NM_005828		61666411	+1	tier1	-	no_errors	ENST00000310827	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	A
DCLRE1C	64421	genome.wustl.edu	37	10	14974898	14974898	+	Silent	SNP	G	G	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:14974898G>C	ENST00000378278.2	-	9	772	c.735C>G	c.(733-735)ctC>ctG	p.L245L	DCLRE1C_ENST00000357717.2_Silent_p.L130L|DCLRE1C_ENST00000378249.1_Silent_p.L130L|DCLRE1C_ENST00000396817.2_Silent_p.L125L|DCLRE1C_ENST00000378258.1_Silent_p.L125L|DCLRE1C_ENST00000378255.1_Silent_p.L125L|DCLRE1C_ENST00000378246.2_Silent_p.L130L|DCLRE1C_ENST00000378289.4_Silent_p.L245L|DCLRE1C_ENST00000378254.1_Silent_p.L125L|DCLRE1C_ENST00000453695.2_Silent_p.L125L			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	245					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGTCTGTTGTGAGATGATGAA	0.393								Non-homologous end-joining																																									0													241.0	197.0	212.0					10																	14974898		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.735C>G	10.37:g.14974898G>C			D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	pfam_DRMBL	p.L245	ENST00000378278.2	37	c.735	CCDS31149.1	10																																																																																			DCLRE1C	-	pfam_DRMBL	ENSG00000152457		0.393	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0.00	60	0	G	NM_022487		14974898	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	silent	27.87	44	17	SNP	0.994	C
DENND4B	9909	genome.wustl.edu	37	1	153916619	153916619	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:153916619C>T	ENST00000361217.4	-	2	650	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	78	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCACTGAGTTCCAAGGGGTGG	0.632																																																	0													39.0	45.0	43.0					1																	153916619		1960	4150	6110	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.232G>A	1.37:g.153916619C>T	ENSP00000354597:p.Glu78Lys		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E78K	ENST00000361217.4	37	c.232	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.462594	0.96240	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.25579	1.79;1.79	4.16	4.16	0.48862	MABP domain (1);	.	.	.	.	T	0.19127	0.0459	L	0.43152	1.355	0.58432	D	0.999999	D	0.55172	0.97	P	0.46172	0.506	T	0.03651	-1.1016	9	0.87932	D	0	-0.1703	15.7271	0.77770	0.0:1.0:0.0:0.0	.	78	O75064	DEN4B_HUMAN	K	78;89	ENSP00000354597:E78K;ENSP00000357635:E89K	ENSP00000354597:E78K	E	-	1	0	DENND4B	152183243	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.418000	0.80167	2.310000	0.77875	0.462000	0.41574	GAA	DENND4B	-	pfscan_uDENN_dom	ENSG00000198837		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0.00	65	0	C	XM_375806		153916619	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	13.25	71	11	SNP	1.000	T
DNAH2	146754	genome.wustl.edu	37	17	7721353	7721353	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:7721353C>T	ENST00000572933.1	+	68	11786	c.10326C>T	c.(10324-10326)aaC>aaT	p.N3442N	DNAH2_ENST00000389173.2_Silent_p.N3442N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3442	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACTTCAGAACGTGCAGGAAT	0.522																																																	0													134.0	119.0	124.0					17																	7721353		2203	4300	6503	SO:0001819	synonymous_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10326C>T	17.37:g.7721353C>T			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N3442	ENST00000572933.1	37	c.10326	CCDS32551.1	17																																																																																			DNAH2	-	NULL	ENSG00000183914		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0.00	82	0	C	NM_020877		7721353	+1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	silent	20.51	62	16	SNP	0.043	T
DNAH5	1767	genome.wustl.edu	37	5	13776619	13776619	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:13776619T>C	ENST00000265104.4	-	55	9406	c.9302A>G	c.(9301-9303)aAg>aGg	p.K3101R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3101	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCAGGGAACTTCAAAGCTCT	0.483									Kartagener syndrome																																								0													106.0	100.0	102.0					5																	13776619		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9302A>G	5.37:g.13776619T>C	ENSP00000265104:p.Lys3101Arg		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K3101R	ENST00000265104.4	37	c.9302	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266537	0.80358	.	.	ENSG00000039139	ENST00000265104	T	0.40756	1.02	5.97	5.97	0.96955	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.70275	2.135	0.58432	D	0.999998	P	0.41214	0.742	P	0.51453	0.67	T	0.54255	-0.8321	10	0.35671	T	0.21	.	16.4473	0.83942	0.0:0.0:0.0:1.0	.	3101	Q8TE73	DYH5_HUMAN	R	3101	ENSP00000265104:K3101R	ENSP00000265104:K3101R	K	-	2	0	DNAH5	13829619	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.039000	0.64185	2.281000	0.76405	0.533000	0.62120	AAG	DNAH5	-	superfamily_P-loop_NTPase	ENSG00000039139		0.483	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	40	0	T	NM_001369		13776619	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	C
DNAH7	56171	genome.wustl.edu	37	2	196718231	196718232	+	Frame_Shift_Ins	INS	-	-	T	rs201663412		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:196718231_196718232insT	ENST00000312428.6	-	46	8716_8717	c.8616_8617insA	c.(8614-8619)aaactafs	p.L2873fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2873	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTCGTTCTAGTTTTTTGCTGC	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8617dupA	2.37:g.196718237_196718237dupT	ENSP00000311273:p.Leu2873fs		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L2872fs	ENST00000312428.6	37	c.8617_8616	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.411	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0.00	27	0	-	NM_018897		196718232	-1	tier1		no_errors	ENST00000312428	ensembl	human	known	74_37	frame_shift_ins	16.13	26	5	INS	1.000:1.000	T
DNAH7	56171	genome.wustl.edu	37	2	196723220	196723220	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:196723220G>A	ENST00000312428.6	-	43	8145	c.8045C>T	c.(8044-8046)gCc>gTc	p.A2682V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2682	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTATCAAGGGCGGCCAGTGC	0.458																																																	0													52.0	49.0	50.0					2																	196723220		1962	4155	6117	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8045C>T	2.37:g.196723220G>A	ENSP00000311273:p.Ala2682Val		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.A2682V	ENST00000312428.6	37	c.8045	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128475	0.77549	.	.	ENSG00000118997	ENST00000312428	T	0.80214	-1.35	5.64	5.64	0.86602	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95624	0.8683	10	0.66056	D	0.02	.	19.4873	0.95035	0.0:0.0:1.0:0.0	.	2682	Q8WXX0	DYH7_HUMAN	V	2682	ENSP00000311273:A2682V	ENSP00000311273:A2682V	A	-	2	0	DNAH7	196431465	1.000000	0.71417	0.946000	0.38457	0.010000	0.07245	9.544000	0.98092	2.937000	0.99478	0.650000	0.86243	GCC	DNAH7	-	NULL	ENSG00000118997		0.458	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0.00	31	0	G	NM_018897		196723220	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	A
DNAJB6	10049	genome.wustl.edu	37	7	157151249	157151249	+	5'UTR	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:157151249C>T	ENST00000262177.4	+	0	188				DNAJB6_ENST00000429029.2_5'UTR|DNAJB6_ENST00000443280.1_5'UTR|DNAJB6_ENST00000452797.2_5'UTR	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6						intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGGACCCATTCCAACAATCTC	0.488																																					Esophageal Squamous(46;195 967 1350 20350 43814)												0													82.0	77.0	79.0					7																	157151249		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.-18C>T	7.37:g.157151249C>T			A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	RNA	SNP	-	NULL	ENST00000262177.4	37	NULL	CCDS5946.1	7																																																																																			DNAJB6	-	-	ENSG00000105993		0.488	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2	-	0.00	55	0	C			157151249	+1	tier1	-	no_errors	ENST00000486083	ensembl	human	known	74_37	rna	9.52	38	4	SNP	0.150	T
DOCK1	1793	genome.wustl.edu	37	10	129207590	129207590	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:129207590C>T	ENST00000280333.6	+	42	4324	c.4215C>T	c.(4213-4215)ttC>ttT	p.F1405F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1405	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCAGTGCTTCACAGTGAAGC	0.488																																																	0													121.0	117.0	119.0					10																	129207590		1968	4162	6130	SO:0001819	synonymous_variant	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4215C>T	10.37:g.129207590C>T			A9Z1Z5	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.F1405	ENST00000280333.6	37	c.4215		10																																																																																			DOCK1	-	NULL	ENSG00000150760		0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0.00	62	0	C	NM_001380		129207590	+1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	silent	7.81	59	5	SNP	1.000	T
DUSP10	11221	genome.wustl.edu	37	1	221875662	221875662	+	3'UTR	DEL	A	A	-	rs3215279		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:221875662delA	ENST00000366899.3	-	0	1779				DUSP10_ENST00000323825.3_3'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCCCAACTACAAAAAAAAAAA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*92T>-	1.37:g.221875662delA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	DEL	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.348	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	32	0	A	NM_007207		221875662	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	13.04	20	3	DEL	0.040	-
EEFSEC	60678	genome.wustl.edu	37	3	128060137	128060137	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:128060137G>T	ENST00000254730.6	+	5	902	c.848G>T	c.(847-849)gGa>gTa	p.G283V	EEFSEC_ENST00000483457.1_Missense_Mutation_p.G228V|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	283					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCCATGCAAGGAGACCGGCTG	0.577																																																	0													83.0	77.0	79.0					3																	128060137		2203	4300	6503	SO:0001583	missense	0				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.848G>T	3.37:g.128060137G>T	ENSP00000254730:p.Gly283Val		Q96HZ6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.G283V	ENST00000254730.6	37	c.848	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865663	0.91511	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.71817	-0.6;0.12	5.34	5.34	0.76211	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94784	0.7956	10	0.87932	D	0	-0.5463	19.0252	0.92930	0.0:0.0:1.0:0.0	.	228;283	C9J8T0;P57772	.;SELB_HUMAN	V	283;228	ENSP00000254730:G283V;ENSP00000417660:G228V	ENSP00000254730:G283V	G	+	2	0	EEFSEC	129542827	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.858000	0.99539	2.480000	0.83734	0.591000	0.81541	GGA	EEFSEC	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel	ENSG00000132394		0.577	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	HGNC	protein_coding	OTTHUMT00000356738.2	-	0.00	52	0	G	NM_021937		128060137	+1	tier1	-	no_errors	ENST00000254730	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
EIF4G1	1981	genome.wustl.edu	37	3	184041274	184041274	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:184041274G>T	ENST00000346169.2	+	15	2438	c.2167G>T	c.(2167-2169)Gaa>Taa	p.E723*	SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.E683*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.E637*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.E527*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.E723*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.E730*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.E560*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.E559*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.E730*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.E724*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.E528*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.E636*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.E684*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.E730*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	723	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTAATGACCGAAGATATAAA	0.542																																																	0													118.0	129.0	126.0					3																	184041274		2203	4300	6503	SO:0001587	stop_gained	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2167G>T	3.37:g.184041274G>T	ENSP00000316879:p.Glu723*		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E730*	ENST00000346169.2	37	c.2188	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.750214	0.97809	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	.	.	.	5.36	5.36	0.76844	.	0.232501	0.43579	D	0.000548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-13.2476	19.097	0.93257	0.0:0.0:1.0:0.0	.	.	.	.	X	723;683;636;724;731;730;664;559;730;637;724;723;730;684;559;560;528;527	.	ENSP00000323737:E723X	E	+	1	0	EIF4G1	185523968	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	7.632000	0.83247	2.500000	0.84329	0.467000	0.42956	GAA	EIF4G1	-	NULL	ENSG00000114867		0.542	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1		0.00	26	0	G	NM_182917		184041274	+1			no_errors	ENST00000352767	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T
ELFN2	114794	genome.wustl.edu	37	22	37771876	37771877	+	5'UTR	INS	-	-	CCT	rs553606382|rs142158248|rs370069619	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr22:37771876_37771877insCCT	ENST00000402918.2	-	0	483_484				RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'UTR|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2						negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GACTtcctctccctcctcctcc	0.634														1306	0.260783	0.2088	0.2161	5008	,	,		16480	0.3343		0.2763	False		,,,				2504	0.271																0																																										SO:0001623	5_prime_UTR_variant	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.-303->AGG	22.37:g.37771883_37771885dupCCT			Q96PY3	RNA	INS	-	NULL	ENST00000402918.2	37	NULL	CCDS33642.1	22																																																																																			ELFN2	-	-	ENSG00000166897		0.634	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2		0.00	15	0	-	NM_052906		37771877	-1	tier1		no_errors	ENST00000414347	ensembl	human	known	74_37	rna	23.08	10	3	INS	0.001:0.043	CCT
ELMO1	9844	genome.wustl.edu	37	7	37354505	37354505	+	Silent	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:37354505T>C	ENST00000310758.4	-	4	788	c.141A>G	c.(139-141)gaA>gaG	p.E47E	ELMO1_ENST00000442504.1_Silent_p.E47E|ELMO1_ENST00000448602.1_Silent_p.E47E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	47					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGCAAAATATTCATGGTTGG	0.323																																																	0													102.0	97.0	99.0					7																	37354505		2203	4300	6503	SO:0001819	synonymous_variant	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.141A>G	7.37:g.37354505T>C			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E47	ENST00000310758.4	37	c.141	CCDS5449.1	7																																																																																			ELMO1	-	NULL	ENSG00000155849		0.323	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0.00	41	0	T	NM_130442		37354505	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	silent	8.77	52	5	SNP	0.142	C
EMP1	2012	genome.wustl.edu	37	12	13364426	13364427	+	5'UTR	INS	-	-	A	rs561332299	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:13364426_13364427insA	ENST00000256951.5	+	0	181_182				EMP1_ENST00000431267.2_Intron|EMP1_ENST00000396301.3_5'UTR|EMP1_ENST00000542289.1_3'UTR|EMP1_ENST00000544053.1_Intron|EMP1_ENST00000537612.1_5'Flank	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1						cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CACAAGTTACCAAAAAAAAAAG	0.411													|||unknown(HR)	58	0.0115815	0.0144	0.0303	5008	,	,		21444	0.004		0.001	False		,,,				2504	0.0133																0																																										SO:0001623	5_prime_UTR_variant	0			U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.-18->A	12.37:g.13364436_13364436dupA			B2R5N1|B4DRR1|O00681|Q13481|Q13834	RNA	INS	-	NULL	ENST00000256951.5	37	NULL	CCDS8660.1	12																																																																																			EMP1	-	-	ENSG00000134531		0.411	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP1	HGNC	protein_coding	OTTHUMT00000401019.1		0.00	44	0	-	NM_001423		13364427	+1	tier1		no_errors	ENST00000542289	ensembl	human	known	74_37	rna	10.34	52	6	INS	0.000:0.000	A
C6ORF50	0	genome.wustl.edu	37	6	3983532	3983533	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:3983532_3983533insA	ENST00000356722.3	+	1	624_625	c.131_132insA	c.(130-135)ataaaafs	p.IK44fs																								gcaatatttataaaaatgtgct	0.302																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000356722.3:c.136dupA	6.37:g.3983537_3983537dupA	ENSP00000369622:p.Ile44fs			Frame_Shift_Ins	INS	NULL	p.M46fs	ENST00000356722.3	37	c.131_132		6																																																																																			C6ORF50	-	NULL	ENSG00000145965		0.302	C6ORF50-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000145965	Uniprot_gn	protein_coding			0.00	33	0	-			3983533	+1	tier1		no_errors	ENST00000356722	ensembl	human	known	74_37	frame_shift_ins	30.56	25	11	INS	0.036:0.050	A
NPR3	4883	genome.wustl.edu	37	5	32789565	32789565	+	3'UTR	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:32789565T>C	ENST00000265074.8	+	0	5083				AC026703.1_ENST00000326958.1_Silent_p.L20L	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTGTCTTTTCTTGAACCACAG	0.413																																																	0													90.0	92.0	91.0					5																	32789565		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3114T>C	5.37:g.32789565T>C			A2RRD1|B4DT84|E7EPG9	Silent	SNP	NULL	p.L20	ENST00000265074.8	37	c.58	CCDS56357.1	5																																																																																			AC026703.1	-	NULL	ENSG00000181495		0.413	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000181495	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000317550.3	-	0.00	42	0	T	NM_000908		32789565	+1	tier1	-	no_errors	ENST00000326958	ensembl	human	novel	74_37	silent	23.91	35	11	SNP	0.000	C
RP11-159F24.2	0	genome.wustl.edu	37	5	43348816	43348817	+	RNA	INS	-	-	A	rs553054916|rs574591852|rs140799200	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:43348816_43348817insA	ENST00000511991.1	+	0	430_431																											ACCAAACTCTTAAAAAAAAAAA	0.337																																																	0																																												0																															5.37:g.43348827_43348827dupA				RNA	INS	-	NULL	ENST00000511991.1	37	NULL		5																																																																																			RP11-159F24.2	-	-	ENSG00000188850		0.337	RP11-159F24.2-001	KNOWN	basic	processed_transcript	ENSG00000188850	Clone_based_vega_gene	pseudogene	OTTHUMT00000367972.1		0.00	17	0	-			43348817	+1	tier1		no_errors	ENST00000511991	ensembl	human	known	74_37	rna	15.38	22	4	INS	0.001:0.000	A
RP11-159F24.2	0	genome.wustl.edu	37	5	43348817	43348817	+	RNA	DEL	A	A	-	rs553054916	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:43348817delA	ENST00000511991.1	+	0	431																											CCAAACTCTTAAAAAAAAAAA	0.338														4	0.000798722	0.0023	0.0014	5008	,	,		18773	0.0		0.0	False		,,,				2504	0.0																0																																												0																															5.37:g.43348817delA				RNA	DEL	-	NULL	ENST00000511991.1	37	NULL		5																																																																																			RP11-159F24.2	-	-	ENSG00000188850		0.338	RP11-159F24.2-001	KNOWN	basic	processed_transcript	ENSG00000188850	Clone_based_vega_gene	pseudogene	OTTHUMT00000367972.1		0.00	17	0	A			43348817	+1	tier1		no_errors	ENST00000511991	ensembl	human	known	74_37	rna	14.81	23	4	DEL	0.000	-
LOC100128554	100128554	genome.wustl.edu	37	12	126947300	126947300	+	lincRNA	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:126947300C>T	ENST00000397346.3	+	0	1068																											cCCGATTCAGCACGTCCCTGG	0.488																																																	0																																												0																															12.37:g.126947300C>T				RNA	SNP	-	NULL	ENST00000397346.3	37	NULL		12																																																																																			RP5-944M2.3	-	-	ENSG00000214043		0.488	RP5-944M2.3-001	KNOWN	basic	lincRNA	ENSG00000214043	Clone_based_vega_gene	lincRNA	OTTHUMT00000399847.1	-	0.00	70	0	C			126947300	+1	tier1	-	no_errors	ENST00000397346	ensembl	human	known	74_37	rna	6.25	60	4	SNP	0.000	T
MYO1E	4643	genome.wustl.edu	37	15	59508891	59508894	+	Intron	DEL	ACAC	ACAC	-	rs200768048|rs199582846	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	ACAC	ACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:59508891_59508894delACAC	ENST00000288235.4	-	10	1507				AC092756.1_ENST00000401164.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATATacacatacacacacacacac	0.333														1265	0.252596	0.1172	0.2867	5008	,	,		6684	0.4206		0.1412	False		,,,				2504	0.3528																0																																										SO:0001627	intron_variant	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1107+1195GTGT>-	15.37:g.59508899_59508902delACAC			Q14778	RNA	DEL	-	NULL	ENST00000288235.4	37	NULL	CCDS32254.1	15																																																																																			AC092756.1	-	-	ENSG00000215983		0.333	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000215983	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000416024.1		0.00	8	0	ACAC	NM_004998		59508894	+1	tier1		no_errors	ENST00000401164	ensembl	human	novel	74_37	rna	75.00	1	3	DEL	0.012:0.013:0.017:0.004	-
AL358813.2	0	genome.wustl.edu	37	1	149673265	149673265	+	5'Flank	SNP	C	C	G	rs71620900	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:149673265C>G	ENST00000369173.2	+	0	0				RP11-353N4.5_ENST00000608683.1_lincRNA|RP11-353N4.4_ENST00000443602.2_lincRNA|RNU1-68P_ENST00000517116.1_RNA																							CGGGTCGCCGCGTCCGGAGCC	0.697																																																	0																																										SO:0001631	upstream_gene_variant	0																															1.37:g.149673265C>G	Exception_encountered			RNA	SNP	-	NULL	ENST00000369173.2	37	NULL		1																																																																																			RP11-353N4.4	-	-	ENSG00000223759		0.697	AL358813.2-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000223759	Clone_based_vega_gene	protein_coding		-	0.00	19	0	C			149673265	+1	tier1	-	no_errors	ENST00000443602	ensembl	human	known	74_37	rna	26.32	14	5	SNP	0.001	G
ITSN2	50618	genome.wustl.edu	37	2	24443832	24443832	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:24443832G>T	ENST00000355123.4	-	30	4124	c.3681C>A	c.(3679-3681)gaC>gaA	p.D1227E	AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000361999.3_Missense_Mutation_p.D1200E|AC009228.1_ENST00000413989.1_RNA|ITSN2_ENST00000406921.3_Missense_Mutation_p.D1227E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1227	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGCTGAAGGTCAGCCATGT	0.547																																																	0													212.0	180.0	191.0					2																	24443832		2203	4300	6503	SO:0001583	missense	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3681C>A	2.37:g.24443832G>T	ENSP00000347244:p.Asp1227Glu		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	SNP	-	NULL	ENST00000355123.4	37	c.NULL	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466618	0.43839	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.64260	-0.09;-0.09;-0.09;1.39	4.64	-1.35	0.09114	Dbl homology (DH) domain (5);	0.000000	0.38436	U	0.001696	T	0.76492	0.3995	M	0.85859	2.78	0.39319	D	0.965216	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.99;0.99;0.994	T	0.77895	-0.2417	10	0.87932	D	0	.	10.7001	0.45922	0.604:0.0:0.396:0.0	.	1227;1200;1227	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	E	1200;1227;1200;1227	ENSP00000354561:D1200E;ENSP00000347244:D1227E;ENSP00000370250:D1200E;ENSP00000384499:D1227E	ENSP00000347244:D1227E	D	-	3	2	ITSN2	24297336	0.986000	0.35501	0.887000	0.34795	0.962000	0.63368	0.099000	0.15210	-0.159000	0.11021	0.561000	0.74099	GAC	AC009228.1	-	-	ENSG00000242628		0.547	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000242628	Clone_based_vega_gene	protein_coding	OTTHUMT00000207620.2	-	0.00	34	0	G	NM_006277		24443832	+1	tier1	-	no_errors	ENST00000430105	ensembl	human	known	74_37	splice_site	32.00	17	8	SNP	0.980	T
MGAM2	93432	genome.wustl.edu	37	7	141883081	141883081	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:141883081G>A	ENST00000477922.3	+	33	3886	c.3832G>A	c.(3832-3834)Ggc>Agc	p.G1278S																	endometrium(1)|lung(5)	6						AGCCATTTCTGGCAATGAGAC	0.398																																																	0																																										SO:0001583	missense	0																														ENST00000477922.3:c.3832G>A	7.37:g.141883081G>A	ENSP00000420449:p.Gly1278Ser			Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.G1278S	ENST00000477922.3	37	c.3832		7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042418	0.75732	.	.	ENSG00000257743	ENST00000477922;ENST00000550494	.	.	.	5.08	4.19	0.49359	.	0.299799	0.28549	N	0.014942	T	0.39200	0.1069	.	.	.	.	.	.	.	.	.	.	.	.	T	0.36456	-0.9747	5	0.06625	T	0.88	.	14.8498	0.70286	0.0:0.1451:0.8549:0.0	.	.	.	.	S	1246;205	.	ENSP00000367474:G205S	G	+	1	0	RP11-1220K2.2	141529550	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.992000	0.76238	1.474000	0.48178	0.585000	0.79938	GGC	RP11-1220K2.2	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257743		0.398	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	-	0.00	71	0	G			141883081	+1	tier1	-	no_errors	ENST00000477922	ensembl	human	putative	74_37	missense	16.13	52	10	SNP	1.000	A
RP11-420N3.2	0	genome.wustl.edu	37	16	5289852	5289854	+	RNA	DEL	TCC	TCC	-	rs374504435		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:5289852_5289854delTCC	ENST00000569895.1	+	0	50_52																											GCCGGGTCCTTCCTCTTCCCCAA	0.768																																																	0																																												0																															16.37:g.5289852_5289854delTCC				RNA	DEL	-	NULL	ENST00000569895.1	37	NULL		16																																																																																			RP11-420N3.2	-	-	ENSG00000260411		0.768	RP11-420N3.2-001	KNOWN	basic	processed_transcript	ENSG00000260411	Clone_based_vega_gene	processed_transcript	OTTHUMT00000435404.2		0.00	27	0	TCC			5289854	+1			no_errors	ENST00000569895	ensembl	human	known	74_37	rna	23.08	20	6	DEL	0.002:0.002:0.003	0
SMTNL2	342527	genome.wustl.edu	37	17	4513974	4513975	+	IGR	INS	-	-	AAAG	rs35639596|rs111699059|rs67485004	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:4513974_4513975insAAAG	ENST00000389313.4	+	0	2280				RP11-141J13.5_ENST00000573270.1_lincRNA	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2											breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		cctgtctcaaaaaagaaagaaa	0.49														1701	0.339657	0.2027	0.4035	5008	,	,		25694	0.3006		0.4304	False		,,,				2504	0.4264																0																																										SO:0001628	intergenic_variant	0			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938		17.37:g.4513979_4513982dupAAAG			Q6ZVK6	RNA	INS	-	NULL	ENST00000389313.4	37	NULL	CCDS45583.1	17																																																																																			RP11-141J13.5	-	-	ENSG00000261863		0.490	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261863	Clone_based_vega_gene	protein_coding	OTTHUMT00000439129.1		0.00	13	0	-	NM_198501		4513975	+1	tier1		no_errors	ENST00000573270	ensembl	human	known	74_37	rna	53.85	6	7	INS	0.006:0.005	AAAG
CTD-2026G6.3	0	genome.wustl.edu	37	3	75589344	75589344	+	lincRNA	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:75589344T>G	ENST00000608389.1	-	0	56																											AACTACATACTTTTGGGATTC	0.463																																																	0																																												0																															3.37:g.75589344T>G				RNA	SNP	-	NULL	ENST00000608389.1	37	NULL		3																																																																																			CTD-2026G6.3	-	-	ENSG00000272710		0.463	CTD-2026G6.3-001	KNOWN	basic	lincRNA	ENSG00000272710	Clone_based_vega_gene	lincRNA	OTTHUMT00000471516.1	-	0.00	15	0	T			75589344	-1	tier1	-	no_errors	ENST00000608389	ensembl	human	known	74_37	rna	62.50	6	10	SNP	0.008	G
GPAA1P2	106481722	genome.wustl.edu	37	2	111144211	111144211	+	RNA	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:111144211G>A	ENST00000488671.1	-	0	1304				AC112229.4_ENST00000606848.1_RNA																							GTGCTGCCAGGAAGAGCTGCC	0.642																																																	0																																												0																															2.37:g.111144211G>A				RNA	SNP	-	NULL	ENST00000488671.1	37	NULL		2																																																																																			RP13-1039J1.4	-	-	ENSG00000273471		0.642	RP13-1039J1.4-001	KNOWN	not_organism_supported|basic|readthrough_transcript	processed_transcript	ENSG00000273471	Clone_based_vega_gene	processed_transcript	OTTHUMT00000472131.1		0.00	24	0	G			111144211	-1			no_errors	ENST00000488671	ensembl	human	known	74_37	rna	10.34	26	3	SNP	1.000	A
GPAA1P2	106481722	genome.wustl.edu	37	2	111144214	111144214	+	RNA	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:111144214G>A	ENST00000488671.1	-	0	1301				AC112229.4_ENST00000606848.1_RNA																							CTGCCAGGAAGAGCTGCCAGC	0.647																																																	0																																												0																															2.37:g.111144214G>A				RNA	SNP	-	NULL	ENST00000488671.1	37	NULL		2																																																																																			RP13-1039J1.4	-	-	ENSG00000273471		0.647	RP13-1039J1.4-001	KNOWN	not_organism_supported|basic|readthrough_transcript	processed_transcript	ENSG00000273471	Clone_based_vega_gene	processed_transcript	OTTHUMT00000472131.1		0.00	26	0	G			111144214	-1			no_errors	ENST00000488671	ensembl	human	known	74_37	rna	10.34	26	3	SNP	1.000	A
EPHA5	2044	genome.wustl.edu	37	4	66467875	66467875	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:66467875A>C	ENST00000273854.3	-	3	994	c.394T>G	c.(394-396)Ttt>Gtt	p.F132V	EPHA5_ENST00000432638.2_Missense_Mutation_p.F132V|EPHA5_ENST00000354839.4_Missense_Mutation_p.F132V|EPHA5_ENST00000511294.1_Missense_Mutation_p.F132V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	132	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CGCAGGGTAAATTTGAGTTCT	0.423										TSP Lung(17;0.13)																																							0													84.0	88.0	87.0					4																	66467875		2203	4300	6503	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.394T>G	4.37:g.66467875A>C	ENSP00000273854:p.Phe132Val		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F132V	ENST00000273854.3	37	c.394	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078604	0.76528	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.67	5.67	0.87782	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000006	T	0.63522	0.2518	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.75190	-0.3405	10	0.87932	D	0	.	15.9044	0.79412	1.0:0.0:0.0:0.0	.	132;132;132;132	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	V	132	ENSP00000273854:F132V;ENSP00000389208:F132V;ENSP00000346899:F132V;ENSP00000427638:F132V	ENSP00000273854:F132V	F	-	1	0	EPHA5	66150470	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.339000	0.96797	2.162000	0.67917	0.528000	0.53228	TTT	EPHA5	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000145242		0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0.00	60	0	A	NM_004439		66467875	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	47.46	31	28	SNP	1.000	C
EYS	346007	genome.wustl.edu	37	6	66094313	66094313	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:66094313T>G	ENST00000370621.3	-	8	1791	c.1265A>C	c.(1264-1266)gAa>gCa	p.E422A	EYS_ENST00000393380.2_Missense_Mutation_p.E422A|EYS_ENST00000370616.2_Missense_Mutation_p.E422A|EYS_ENST00000503581.1_Missense_Mutation_p.E422A|EYS_ENST00000342421.5_Missense_Mutation_p.E422A|EYS_ENST00000370618.3_Missense_Mutation_p.E422A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	422					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACACCATTCTTCATTCAGACA	0.323																																																	0													102.0	99.0	100.0					6																	66094313		2202	4292	6494	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1265A>C	6.37:g.66094313T>G	ENSP00000359655:p.Glu422Ala		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E422A	ENST00000370621.3	37	c.1265		6	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665904	0.67700	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.85	5.85	0.93711	.	.	.	.	.	T	0.36054	0.0953	L	0.38175	1.15	0.34707	D	0.727351	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.31503	-0.9941	9	0.52906	T	0.07	.	15.4284	0.75072	0.0:0.0:0.0:1.0	.	422;422;422	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	A	422	ENSP00000424243:E422A;ENSP00000359655:E422A;ENSP00000359650:E422A;ENSP00000377042:E422A;ENSP00000341818:E422A;ENSP00000359652:E422A	ENSP00000341818:E422A	E	-	2	0	EYS	66151034	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	7.496000	0.81526	2.238000	0.73509	0.533000	0.62120	GAA	EYS	-	NULL	ENSG00000188107		0.323	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	33	0	T	XM_294050		66094313	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	G
FAM107B	83641	genome.wustl.edu	37	10	14572365	14572365	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:14572365C>T	ENST00000378470.1	-	2	380	c.94G>A	c.(94-96)Gat>Aat	p.D32N	FAM107B_ENST00000478076.1_Missense_Mutation_p.D32N|FAM107B_ENST00000468747.1_Missense_Mutation_p.D32N|FAM107B_ENST00000378462.1_Missense_Mutation_p.D32N|FAM107B_ENST00000378458.2_Missense_Mutation_p.D32N|FAM107B_ENST00000496330.1_Missense_Mutation_p.D32N|FAM107B_ENST00000479731.1_Missense_Mutation_p.D32N|FAM107B_ENST00000378467.4_Missense_Mutation_p.D32N|FAM107B_ENST00000378465.3_Missense_Mutation_p.D32N|FAM107B_ENST00000181796.2_Missense_Mutation_p.D207N|FAM107B_ENST00000471815.1_5'UTR	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	32					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGTGAAGATCTTGATGGTTC	0.353																																																	0													122.0	119.0	120.0					10																	14572365		2203	4300	6503	SO:0001583	missense	0			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.94G>A	10.37:g.14572365C>T	ENSP00000367731:p.Asp32Asn		A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	pfam_DUF1151	p.D207N	ENST00000378470.1	37	c.619		10	.	.	.	.	.	.	.	.	.	.	C	32	5.136749	0.94517	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277;ENST00000472095	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	L	0.28608	0.87	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.994	T	0.52909	-0.8512	10	0.42905	T	0.14	-17.1425	17.7337	0.88386	0.0:1.0:0.0:0.0	.	207;32	Q9H098-2;Q9H098	.;F107B_HUMAN	N	32;207;32;32;32;32;32;32;32;32;32;32;32;32;32;32;32;32;32;32	ENSP00000367731:D32N;ENSP00000181796:D207N;ENSP00000418120:D32N;ENSP00000367728:D32N;ENSP00000367726:D32N;ENSP00000367719:D32N;ENSP00000417782:D32N;ENSP00000367723:D32N;ENSP00000418330:D32N;ENSP00000419603:D32N;ENSP00000420444:D32N;ENSP00000413676:D32N;ENSP00000420249:D32N;ENSP00000418395:D32N;ENSP00000417242:D32N;ENSP00000420314:D32N;ENSP00000397949:D32N;ENSP00000417845:D32N;ENSP00000419064:D32N	ENSP00000181796:D207N	D	-	1	0	FAM107B	14612371	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.487000	0.81328	2.436000	0.82500	0.591000	0.81541	GAT	FAM107B	-	pfam_DUF1151	ENSG00000065809		0.353	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000046899.1	-	0.00	33	0	C	NM_031453		14572365	-1	tier1	-	no_errors	ENST00000181796	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	T
FAM230C	26080	genome.wustl.edu	37	22	21663211	21663212	+	lincRNA	INS	-	-	ATTA			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr22:21663211_21663212insATTA	ENST00000436681.1	-	0	958_959																											ACGGCGTCCTCGCTGGCGATGC	0.733																																																	0																																												0																															22.37:g.21663211_21663212insATTA				RNA	INS	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			KB-1183D5.13	-	-	ENSG00000206142		0.733	KB-1183D5.13-003	KNOWN	basic	lincRNA	FAM230C	Clone_based_vega_gene	lincRNA	OTTHUMT00000320109.1		0.00	38	0	-			21663212	-1	tier1		no_errors	ENST00000436681	ensembl	human	known	74_37	rna	21.05	15	4	INS	0.000:0.000	ATTA
FAM63A	55793	genome.wustl.edu	37	1	150975149	150975149	+	5'UTR	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:150975149T>C	ENST00000361936.5	-	0	899				FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.Q30R|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCAGGGACTTGCCTAAGCCA	0.507																																																	0													38.0	31.0	33.0					1																	150975149		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.-56A>G	1.37:g.150975149T>C			B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	pfam_DUF544	p.Q30R	ENST00000361936.5	37	c.89	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.255822	0.39896	.	.	ENSG00000143409	ENST00000361738	T	0.45276	0.9	5.03	2.73	0.32206	.	1.125190	0.07099	N	0.840086	T	0.14141	0.0342	.	.	.	0.09310	N	1	B	0.26195	0.144	B	0.27796	0.083	T	0.36986	-0.9725	9	0.51188	T	0.08	3.0015	5.0193	0.14352	0.0:0.0959:0.1981:0.7059	.	30	Q8N5J2-3	.	R	30	ENSP00000354669:Q30R	ENSP00000354669:Q30R	Q	-	2	0	FAM63A	149241773	0.000000	0.05858	0.014000	0.15608	0.314000	0.28054	0.215000	0.17562	0.401000	0.25424	0.533000	0.62120	CAA	FAM63A	-	NULL	ENSG00000143409		0.507	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	-	0.00	49	0	T	NM_018379		150975149	-1	tier1	-	no_errors	ENST00000361738	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.005	C
FANCD2	2177	genome.wustl.edu	37	3	10108913	10108913	+	Missense_Mutation	SNP	G	G	T	rs80258959		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:10108913G>T	ENST00000419585.1	+	26	2567	c.2406G>T	c.(2404-2406)caG>caT	p.Q802H	FANCD2_ENST00000383807.1_Missense_Mutation_p.Q802H|FANCD2_ENST00000383806.1_Missense_Mutation_p.Q802H|FANCD2_ENST00000287647.3_Missense_Mutation_p.Q802H			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	802					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.Q802H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCTTCTGCCAGGAAACATCAC	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	2	Substitution - Missense(2)	prostate(2)											82.0	72.0	75.0					3																	10108913		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2406G>T	3.37:g.10108913G>T	ENSP00000398754:p.Gln802His		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q802H	ENST00000419585.1	37	c.2406	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373535	0.61624	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.44	1.83	0.25207	.	0.551240	0.20789	N	0.085651	T	0.50240	0.1604	M	0.63428	1.95	0.30837	N	0.736052	P;P	0.50710	0.938;0.938	P;P	0.53988	0.739;0.739	T	0.53229	-0.8468	10	0.54805	T	0.06	.	3.6289	0.08124	0.3156:0.0:0.4962:0.1881	.	802;802	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	H	802	ENSP00000287647:Q802H;ENSP00000373318:Q802H;ENSP00000373317:Q802H;ENSP00000398754:Q802H	ENSP00000287647:Q802H	Q	+	3	2	FANCD2	10083913	0.804000	0.28969	0.409000	0.26459	0.904000	0.53231	1.055000	0.30467	0.519000	0.28406	0.585000	0.79938	CAG	FANCD2	-	NULL	ENSG00000144554		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1		0.00	27	0	G			10108913	+1			no_errors	ENST00000287647	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.852	T
FANCD2	2177	genome.wustl.edu	37	3	10108990	10108990	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:10108990A>C	ENST00000419585.1	+	26	2644	c.2483A>C	c.(2482-2484)aAg>aCg	p.K828T	FANCD2_ENST00000383807.1_Missense_Mutation_p.K828T|FANCD2_ENST00000383806.1_Missense_Mutation_p.K828T|FANCD2_ENST00000287647.3_Missense_Mutation_p.K828T			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	828					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATCCTGGAAAAGTACTTGGCA	0.433			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													89.0	76.0	81.0					3																	10108990		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2483A>C	3.37:g.10108990A>C	ENSP00000398754:p.Lys828Thr		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K828T	ENST00000419585.1	37	c.2483	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	A	11.81	1.748801	0.30955	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.44	2.92	0.33932	.	0.294601	0.41001	N	0.000979	T	0.36193	0.0958	L	0.46614	1.455	0.27213	N	0.959867	B;B	0.33826	0.427;0.427	B;B	0.27715	0.082;0.082	T	0.13926	-1.0491	10	0.37606	T	0.19	.	10.6198	0.45474	0.6918:0.3082:0.0:0.0	.	828;828	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	T	828	ENSP00000287647:K828T;ENSP00000373318:K828T;ENSP00000373317:K828T;ENSP00000398754:K828T	ENSP00000287647:K828T	K	+	2	0	FANCD2	10083990	1.000000	0.71417	0.996000	0.52242	0.745000	0.42441	1.831000	0.39141	0.318000	0.23185	0.477000	0.44152	AAG	FANCD2	-	NULL	ENSG00000144554		0.433	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	-	0.00	33	0	A			10108990	+1	tier1	-	no_errors	ENST00000287647	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	C
FATE1	89885	genome.wustl.edu	37	X	150885855	150885855	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:150885855C>A	ENST00000370350.3	+	2	303	c.218C>A	c.(217-219)aCc>aAc	p.T73N		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	73						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACTGCCACCCGACCCAAG	0.557																																																	0													108.0	104.0	105.0					X																	150885855		2203	4300	6503	SO:0001583	missense	0			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.218C>A	X.37:g.150885855C>A	ENSP00000359375:p.Thr73Asn			Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.T73N	ENST00000370350.3	37	c.218	CCDS14700.1	X	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917340	0.17982	.	.	ENSG00000147378	ENST00000370350;ENST00000417321	T;T	0.44881	0.95;0.91	3.59	-0.58	0.11717	.	1.118960	0.06944	N	0.813381	T	0.21022	0.0506	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.22243	-1.0222	10	0.36615	T	0.2	.	6.2873	0.21041	0.5266:0.3033:0.1701:0.0	.	73	Q969F0	FATE1_HUMAN	N	73;65	ENSP00000359375:T73N;ENSP00000400493:T65N	ENSP00000359375:T73N	T	+	2	0	FATE1	150636511	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.280000	0.08468	-0.257000	0.09459	0.529000	0.55759	ACC	FATE1	-	pfam_FATE/Miff/Tango-11	ENSG00000147378		0.557	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FATE1	HGNC	protein_coding	OTTHUMT00000060885.1	-	0.00	45	0	C	NM_033085		150885855	+1	tier1	-	no_errors	ENST00000370350	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	A
FBLIM1	54751	genome.wustl.edu	37	1	16101328	16101328	+	Intron	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:16101328G>A	ENST00000375766.3	+	7	1530				FBLIM1_ENST00000441801.2_Silent_p.G309G|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000332305.5_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1						cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GGGGTGCAGGGACAGGGCGAG	0.552																																																	0													70.0	73.0	72.0					1																	16101328		2203	4300	6503	SO:0001627	intron_variant	0				CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.890+37G>A	1.37:g.16101328G>A			B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G309	ENST00000375766.3	37	c.927	CCDS163.1	1																																																																																			FBLIM1	-	NULL	ENSG00000162458		0.552	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FBLIM1	HGNC	protein_coding	OTTHUMT00000008511.3	-	0.00	38	0	G	NM_001024215		16101328	+1	tier1	-	no_errors	ENST00000441801	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.001	A
FBN2	2201	genome.wustl.edu	37	5	127614390	127614390	+	Missense_Mutation	SNP	G	G	A	rs1801169		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:127614390G>A	ENST00000508053.1	-	63	8256	c.7282C>T	c.(7282-7284)Cct>Tct	p.P2428S	FBN2_ENST00000262464.4_Missense_Mutation_p.P2428S			P35556	FBN2_HUMAN	fibrillin 2	2428	TB 9.		P -> T (in dbSNP:rs1801169). {ECO:0000269|PubMed:9714438}.		anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCAGTTCCAGGAAGTGGGCAA	0.478																																																	0													110.0	103.0	106.0					5																	127614390		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7282C>T	5.37:g.127614390G>A	ENSP00000424571:p.Pro2428Ser		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P2428S	ENST00000508053.1	37	c.7282	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431956	0.62844	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92699	-3.09;-3.09	4.84	3.96	0.45880	Matrix fibril-associated (3);TGF-beta binding (1);	0.125811	0.36167	N	0.002748	D	0.93671	0.7978	M	0.85630	2.765	0.52099	D	0.99994	P	0.48589	0.912	P	0.52189	0.692	D	0.91436	0.5170	10	0.11485	T	0.65	.	14.0099	0.64490	0.0769:0.0:0.9231:0.0	.	2428	P35556	FBN2_HUMAN	S	2428	ENSP00000262464:P2428S;ENSP00000424571:P2428S	ENSP00000262464:P2428S	P	-	1	0	FBN2	127642289	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.635000	0.83286	2.675000	0.91044	0.650000	0.86243	CCT	FBN2	-	pirsf_FBN,pfam_TB_dom,superfamily_TB_dom	ENSG00000138829		0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0.00	38	0	G	NM_001999		127614390	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	32.43	25	12	SNP	1.000	A
FGF1	2246	genome.wustl.edu	37	5	141974991	141974991	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:141974991G>A	ENST00000359370.6	-	4	411	c.332C>T	c.(331-333)aCc>aTc	p.T111I	FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000407758.1_3'UTR|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000337706.2_Missense_Mutation_p.T111I|FGF1_ENST00000494579.1_5'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000419524.2_Missense_Mutation_p.T111I|FGF1_ENST00000378046.1_Missense_Mutation_p.T111I	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	111					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	GGATATATAGGTGTTGTAATG	0.443																																																	0													133.0	121.0	125.0					5																	141974991		2203	4300	6503	SO:0001583	missense	0			X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.332C>T	5.37:g.141974991G>A	ENSP00000352329:p.Thr111Ile		B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.T111I	ENST00000359370.6	37	c.332	CCDS4275.1	5	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659620	0.88154	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.964	D	0.91877	0.5512	10	0.87932	D	0	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	110;111	A8K147;P05230	.;FGF1_HUMAN	I	111	ENSP00000352329:T111I;ENSP00000367285:T111I;ENSP00000338548:T111I;ENSP00000404742:T111I;ENSP00000396195:T111I	ENSP00000338548:T111I	T	-	2	0	FGF1	141955175	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	9.284000	0.95882	2.774000	0.95407	0.650000	0.86243	ACC	FGF1	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000113578		0.443	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF1	HGNC	protein_coding	OTTHUMT00000132735.2	-	0.00	59	0	G	NM_000800		141974991	-1	tier1	-	no_errors	ENST00000337706	ensembl	human	known	74_37	missense	26.53	36	13	SNP	1.000	A
FLG2	388698	genome.wustl.edu	37	1	152329098	152329098	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:152329098G>T	ENST00000388718.5	-	3	1236	c.1164C>A	c.(1162-1164)agC>agA	p.S388R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	388	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACAAGACTGGCTACCTCCAG	0.438																																																	0													126.0	119.0	122.0					1																	152329098		2203	4300	6503	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1164C>A	1.37:g.152329098G>T	ENSP00000373370:p.Ser388Arg		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S388R	ENST00000388718.5	37	c.1164	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768756	0.31320	.	.	ENSG00000143520	ENST00000388718	T	0.18657	2.2	5.09	1.05	0.20165	.	.	.	.	.	T	0.03915	0.0110	L	0.47716	1.5	0.09310	N	1	P	0.38827	0.649	B	0.32211	0.142	T	0.38308	-0.9667	9	0.15066	T	0.55	-5.0946	3.6343	0.08143	0.5663:0.0:0.0946:0.3391	.	388	Q5D862	FILA2_HUMAN	R	388	ENSP00000373370:S388R	ENSP00000373370:S388R	S	-	3	2	FLG2	150595722	0.000000	0.05858	0.236000	0.24074	0.004000	0.04260	-0.340000	0.07821	0.037000	0.15575	-0.290000	0.09829	AGC	FLG2	-	NULL	ENSG00000143520		0.438	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0.00	79	0	G	NM_001014342		152329098	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.085	T
FLRT2	23768	genome.wustl.edu	37	14	86092223	86092223	+	3'UTR	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr14:86092223T>C	ENST00000330753.4	+	0	5132					NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACCCCCAGTGGGATTTCTG	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.*2382T>C	14.37:g.86092223T>C			A0AV84|B7ZLP3	RNA	SNP	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			FLRT2	-	-	ENSG00000185070		0.378	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	-	0.00	38	0	T			86092223	+1	tier1	-	no_errors	ENST00000553650	ensembl	human	putative	74_37	rna	41.67	14	10	SNP	0.000	C
FLT4	2324	genome.wustl.edu	37	5	180058729	180058729	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:180058729C>T	ENST00000261937.6	-	2	186	c.108G>A	c.(106-108)gaG>gaA	p.E36E	FLT4_ENST00000502649.1_Silent_p.E36E|FLT4_ENST00000393347.3_Silent_p.E36E|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	36	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTGTGACTCCTCCGTGATGT	0.637																																					Colon(97;1075 1466 27033 27547 35871)												0													104.0	86.0	93.0					5																	180058729		2202	4300	6502	SO:0001819	synonymous_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.108G>A	5.37:g.180058729C>T			A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.E36	ENST00000261937.6	37	c.108	CCDS4457.1	5																																																																																			FLT4	-	smart_Ig_sub,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	ENSG00000037280		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	-	0.00	143	0	C			180058729	-1	tier1	-	no_errors	ENST00000261937	ensembl	human	known	74_37	silent	11.81	111	15	SNP	0.993	T
FOLH1B	219595	genome.wustl.edu	37	11	89378298	89378298	+	RNA	SNP	T	T	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:89378298T>A	ENST00000532352.1	+	0	241							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGTCCTGTTGTCCTACCCAAA	0.358																																																	0																																												0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89378298T>A				RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.358	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	-	0.00	112	0	T	NM_153696		89378298	+1	tier1	-	no_errors	ENST00000531315	ensembl	human	known	74_37	rna	35.24	68	37	SNP	1.000	A
FREM2	341640	genome.wustl.edu	37	13	39264447	39264447	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:39264447C>A	ENST00000280481.7	+	1	3182	c.2966C>A	c.(2965-2967)cCt>cAt	p.P989H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	989					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAGATCCACCTTTGTATGGG	0.448																																																	0													126.0	130.0	129.0					13																	39264447		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2966C>A	13.37:g.39264447C>A	ENSP00000280481:p.Pro989His		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P989H	ENST00000280481.7	37	c.2966	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771891	0.69992	.	.	ENSG00000150893	ENST00000280481	T	0.26223	1.75	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73607	-0.3929	10	0.87932	D	0	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	989	Q5SZK8	FREM2_HUMAN	H	989	ENSP00000280481:P989H	ENSP00000280481:P989H	P	+	2	0	FREM2	38162447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.755000	0.94549	0.655000	0.94253	CCT	FREM2	-	NULL	ENSG00000150893		0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0.00	40	0	C	NM_207361		39264447	+1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A
FSIP2	401024	genome.wustl.edu	37	2	186673392	186673392	+	Silent	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:186673392A>G	ENST00000424728.1	+	17	19359	c.19359A>G	c.(19357-19359)aaA>aaG	p.K6453K	FSIP2_ENST00000343098.5_Silent_p.K6542K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6453										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTCCTAAAAAAGTGGCTAGTT	0.313																																																	0													39.0	37.0	38.0					2																	186673392		1790	4052	5842	SO:0001819	synonymous_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19359A>G	2.37:g.186673392A>G			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.K6542	ENST00000424728.1	37	c.19626		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.313	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0.00	71	0	A	NM_173651		186673392	+1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	20.75	42	11	SNP	0.918	G
GAMT	2593	genome.wustl.edu	37	19	1398833	1398833	+	Intron	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:1398833G>T	ENST00000252288.2	-	5	637				AC005329.7_ENST00000501448.1_RNA|GAMT_ENST00000447102.3_Missense_Mutation_p.L218I	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	TCCCCAGGTAGCAAGGTGGCT	0.602																																					Colon(167;1531 1939 13427 28842 31956)												0													37.0	34.0	35.0					19																	1398833		1327	2309	3636	SO:0001627	intron_variant	0			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.570+81C>A	19.37:g.1398833G>T			A8K0A0|Q53Y34|Q8WVJ1	Missense_Mutation	SNP	NULL	p.L218I	ENST00000252288.2	37	c.652	CCDS12064.1	19	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886537	0.33348	.	.	ENSG00000130005	ENST00000447102	D	0.94828	-3.53	2.78	-5.56	0.02529	.	.	.	.	.	D	0.84456	0.5476	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71080	-0.4696	8	0.12766	T	0.61	.	5.515	0.16902	0.1828:0.0:0.5453:0.2719	.	218	A8K0A0	.	I	218	ENSP00000403536:L218I	ENSP00000403536:L218I	L	-	1	2	GAMT	1349833	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-2.416000	0.01035	-2.466000	0.00533	-0.666000	0.03841	CTA	GAMT	-	NULL	ENSG00000130005		0.602	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAMT	HGNC	protein_coding	OTTHUMT00000449739.1	-	0.00	55	0	G	NM_138924		1398833	-1	tier1	-	no_errors	ENST00000447102	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	T
GAPDHS	26330	genome.wustl.edu	37	19	36033272	36033272	+	Silent	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:36033272G>T	ENST00000222286.4	+	5	617	c.501G>T	c.(499-501)gtG>gtT	p.V167V	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	167					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTACGTGGTGGAGTCCACAG	0.637																																																	0													52.0	51.0	51.0					19																	36033272		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.501G>T	19.37:g.36033272G>T			B2RC82|O60823|Q6JTT9|Q9HCU6	Silent	SNP	pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.V167	ENST00000222286.4	37	c.501	CCDS12465.1	19																																																																																			GAPDHS	-	pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,tigrfam_Glyceraldehyde-3-P_DH_1	ENSG00000105679		0.637	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	-	0.00	39	0	G	NM_014364		36033272	+1	tier1	-	no_errors	ENST00000222286	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.761	T
GDA	9615	genome.wustl.edu	37	9	74842874	74842874	+	Missense_Mutation	SNP	G	G	A	rs551530651		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:74842874G>A	ENST00000358399.3	+	9	931	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	GDA_ENST00000376989.3_Missense_Mutation_p.G219S|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.G202S|GDA_ENST00000238018.4_Missense_Mutation_p.G280S|GDA_ENST00000545168.1_Missense_Mutation_p.G206S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	280					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.G280S(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GATGGCACACGGCTGCTACCT	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20636	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	lung(2)											115.0	88.0	97.0					9																	74842874		2203	4300	6503	SO:0001583	missense	0			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.838G>A	9.37:g.74842874G>A	ENSP00000351170:p.Gly280Ser		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.G280S	ENST00000358399.3	37	c.838	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199544	0.79015	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.38	5.38	0.77491	Amidohydrolase 1 (1);	0.046947	0.85682	D	0.000000	D	0.92782	0.7705	L	0.51853	1.615	0.49915	D	0.999836	P;D;D	0.76494	0.856;0.996;0.999	P;P;D	0.67548	0.635;0.901;0.952	D	0.90043	0.4143	10	0.19590	T	0.45	-7.1373	16.4114	0.83713	0.0:0.0:1.0:0.0	.	202;280;280	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	S	206;280;219;202;280;146	ENSP00000437972:G206S;ENSP00000238018:G280S;ENSP00000366188:G219S;ENSP00000366185:G202S;ENSP00000351170:G280S;ENSP00000403897:G146S	ENSP00000238018:G280S	G	+	1	0	GDA	74032694	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.822000	0.75277	2.668000	0.90789	0.563000	0.77884	GGC	GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	ENSG00000119125		0.458	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	-	0.00	25	0	G			74842874	+1	tier1	-	no_errors	ENST00000238018	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A
GLP2R	9340	genome.wustl.edu	37	17	9745841	9745841	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:9745841T>G	ENST00000262441.5	+	4	925	c.412T>G	c.(412-414)Ttg>Gtg	p.L138V	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	138					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CAGACACTGCTTGGCTCAGGG	0.527																																																	0													126.0	102.0	110.0					17																	9745841		2203	4300	6503	SO:0001583	missense	0			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.412T>G	17.37:g.9745841T>G	ENSP00000262441:p.Leu138Val		Q4VAT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L138V	ENST00000262441.5	37	c.412	CCDS11150.1	17	.	.	.	.	.	.	.	.	.	.	T	12.09	1.833573	0.32421	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.63580	-0.05	4.93	-1.13	0.09775	GPCR, family 2, extracellular hormone receptor domain (2);	0.281511	0.19177	N	0.120789	T	0.69269	0.3092	M	0.83953	2.67	0.09310	N	0.999992	P	0.46987	0.888	P	0.54706	0.759	T	0.61603	-0.7029	10	0.52906	T	0.07	.	6.0115	0.19578	0.1307:0.4174:0.0:0.4519	.	138	O95838	GLP2R_HUMAN	V	138;113;138	ENSP00000262441:L138V	ENSP00000262441:L138V	L	+	1	2	GLP2R	9686566	0.982000	0.34865	0.127000	0.21898	0.231000	0.25187	0.528000	0.23002	-0.425000	0.07371	-0.441000	0.05720	TTG	GLP2R	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000065325		0.527	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4	-	0.00	33	0	T			9745841	+1	tier1	-	no_errors	ENST00000262441	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.099	G
GMEB1	10691	genome.wustl.edu	37	1	29041385	29041386	+	3'UTR	INS	-	-	A	rs372271712|rs559808019|rs528044464	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:29041385_29041386insA	ENST00000294409.2	+	0	1912				GMEB1_ENST00000373816.1_3'UTR|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCTTTTTTAAAAAAAAAAA	0.342																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.*100->A	1.37:g.29041396_29041396dupA			B1AT48|Q9NWH1|Q9UKD0	RNA	INS	-	NULL	ENST00000294409.2	37	NULL	CCDS327.1	1																																																																																			GMEB1	-	-	ENSG00000162419		0.342	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1		0.00	32	0	-	NM_006582		29041386	+1	tier1		no_errors	ENST00000480454	ensembl	human	known	74_37	rna	16.67	35	7	INS	0.437:0.252	A
GOLGA2	2801	genome.wustl.edu	37	9	131030440	131030440	+	Splice_Site	SNP	C	C	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:131030440C>G	ENST00000421699.2	-	4	325		c.e4-1		GOLGA2_ENST00000609374.1_Splice_Site	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2						mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CATCATGATTCTGTTTGGGAA	0.468																																																	0													150.0	139.0	143.0					9																	131030440		2203	4300	6503	SO:0001630	splice_region_variant	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.313-1G>C	9.37:g.131030440C>G			Q6GRM9|Q9BRB0|Q9NYF9	Splice_Site	SNP	-	e4-1	ENST00000421699.2	37	c.313-1	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	c	13.78	2.340544	0.41498	.	.	ENSG00000167110	ENST00000421699;ENST00000450617;ENST00000458730	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9985	0.80270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLGA2	130070261	1.000000	0.71417	0.915000	0.36163	0.365000	0.29674	4.841000	0.62824	2.459000	0.83118	0.655000	0.94253	.	GOLGA2	-	-	ENSG00000167110		0.468	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2	-	0.00	41	0	C	NM_004486	Intron	131030440	-1	tier1	-	no_errors	ENST00000421699	ensembl	human	known	74_37	splice_site	19.51	33	8	SNP	0.996	G
GPR133	283383	genome.wustl.edu	37	12	131488770	131488770	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:131488770C>T	ENST00000261654.5	+	11	1743	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	GPR133_ENST00000376682.4_Missense_Mutation_p.S81F|GPR133_ENST00000535015.1_Missense_Mutation_p.S427F	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	395					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACCGTGAATTCCTCCCATTAC	0.612																																																	0													87.0	76.0	80.0					12																	131488770		2203	4300	6503	SO:0001583	missense	0			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1184C>T	12.37:g.131488770C>T	ENSP00000261654:p.Ser395Phe		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S395F	ENST00000261654.5	37	c.1184	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037299	0.08148	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.40756	1.05;1.05;1.02	4.95	0.627	0.17675	.	0.940610	0.08950	N	0.870251	T	0.25306	0.0615	L	0.31926	0.97	0.09310	N	1	B;B	0.17465	0.01;0.022	B;B	0.11329	0.002;0.006	T	0.29397	-1.0013	10	0.09843	T	0.71	.	3.9914	0.09538	0.0:0.4992:0.1751:0.3257	.	427;395	B7ZLF7;Q6QNK2	.;GP133_HUMAN	F	395;427;86;91;81	ENSP00000261654:S395F;ENSP00000444425:S427F;ENSP00000365872:S81F	ENSP00000261654:S395F	S	+	2	0	GPR133	130054723	0.000000	0.05858	0.048000	0.18961	0.003000	0.03518	0.471000	0.22100	0.053000	0.16036	-0.424000	0.05967	TCC	GPR133	-	NULL	ENSG00000111452		0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	-	0.00	58	0	C	NM_198827		131488770	+1	tier1	-	no_errors	ENST00000261654	ensembl	human	known	74_37	missense	34.38	42	22	SNP	0.001	T
GPR144	347088	genome.wustl.edu	37	9	127213444	127213444	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:127213444delG	ENST00000334810.1	+	1	22	c.22delG	c.(22-24)gggfs	p.G8fs				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	8					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						TTGGGGAGCAGGGGAAAGGTG	0.597																																																	0													138.0	157.0	151.0					9																	127213444		692	1591	2283	SO:0001589	frameshift_variant	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.22delG	9.37:g.127213444delG	ENSP00000335156:p.Gly8fs		Q86SL4|Q8NH12	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like	p.E9fs	ENST00000334810.1	37	c.22	CCDS48016.1	9																																																																																			GPR144	-	NULL	ENSG00000180264		0.597	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2		0.00	43	0	G	NM_182611		127213444	+1	tier1		no_errors	ENST00000334810	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	0.000	-
GPRC5A	9052	genome.wustl.edu	37	12	13061392	13061392	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:13061392T>C	ENST00000014914.5	+	2	1099	c.209T>C	c.(208-210)cTc>cCc	p.L70P	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	70					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	ACTCAGTTTCTCTTCCTCCTG	0.582																																																	0													165.0	148.0	153.0					12																	13061392		2203	4300	6503	SO:0001583	missense	0			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.209T>C	12.37:g.13061392T>C	ENSP00000014914:p.Leu70Pro		B3KV45|O95357	Missense_Mutation	SNP	pfam_GPCR_3_C	p.L70P	ENST00000014914.5	37	c.209	CCDS8657.1	12	.	.	.	.	.	.	.	.	.	.	T	16.26	3.071851	0.55646	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.91577	-2.87;-2.87	5.63	5.63	0.86233	GPCR, family 3, C-terminal (1);	0.339438	0.28940	N	0.013654	D	0.94503	0.8230	M	0.74647	2.275	0.80722	D	1	D;D	0.65815	0.995;0.995	P;D	0.63283	0.876;0.913	D	0.95048	0.8184	10	0.87932	D	0	-1.446	15.8307	0.78749	0.0:0.0:0.0:1.0	.	70;70	Q8NFJ5;A8K556	RAI3_HUMAN;.	P	70	ENSP00000014914:L70P;ENSP00000441627:L70P	ENSP00000014914:L70P	L	+	2	0	GPRC5A	12952659	0.999000	0.42202	0.996000	0.52242	0.278000	0.26855	3.324000	0.52022	2.148000	0.66965	0.459000	0.35465	CTC	GPRC5A	-	pfam_GPCR_3_C	ENSG00000013588		0.582	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5A	HGNC	protein_coding	OTTHUMT00000400682.1	-	0.00	56	0	T			13061392	+1	tier1	-	no_errors	ENST00000014914	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.995	C
GRIK3	2899	genome.wustl.edu	37	1	37356630	37356630	+	Silent	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:37356630T>G	ENST00000373091.3	-	2	199	c.183A>C	c.(181-183)cgA>cgC	p.R61R	GRIK3_ENST00000373093.4_Silent_p.R61R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	61					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|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)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGGCAGAAAATCGAAAGGCAT	0.502																																																	0													299.0	253.0	269.0					1																	37356630		2203	4300	6503	SO:0001819	synonymous_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.183A>C	1.37:g.37356630T>G			A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R61	ENST00000373091.3	37	c.183	CCDS416.1	1																																																																																			GRIK3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000163873		0.502	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0.00	78	0	T	NM_000831		37356630	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	silent	36.11	46	26	SNP	0.998	G
GSN	2934	genome.wustl.edu	37	9	124093675	124093675	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:124093675T>C	ENST00000373818.4	+	16	2197	c.2128T>C	c.(2128-2130)Tgg>Cgg	p.W710R	GSN_ENST00000436847.1_Missense_Mutation_p.W670R|GSN_ENST00000412819.1_Missense_Mutation_p.W659R|GSN_ENST00000341272.2_Missense_Mutation_p.W659R|GSN_ENST00000373823.3_Missense_Mutation_p.W659R|GSN_ENST00000373808.2_Missense_Mutation_p.W659R|GSN_ENST00000373806.1_Missense_Mutation_p.W135R|GSN_ENST00000449733.1_Missense_Mutation_p.W659R|GSN_ENST00000394353.2_Missense_Mutation_p.W670R|GSN_ENST00000373807.1_Missense_Mutation_p.W441R|GSN_ENST00000545652.1_Missense_Mutation_p.W667R	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	710	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTCTTTGTCTGGGTTGGAAA	0.557																																																	0													72.0	63.0	66.0					9																	124093675		2203	4300	6503	SO:0001583	missense	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2128T>C	9.37:g.124093675T>C	ENSP00000362924:p.Trp710Arg		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.W710R	ENST00000373818.4	37	c.2128	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401907	0.83120	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806	D;D;D;D;D;D;D;D;D;T;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-0.41;-1.99	5.97	5.97	0.96955	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	H	0.98256	4.185	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97024	0.9745	10	0.87932	D	0	-14.0872	15.2713	0.73705	0.0:0.0:0.0:1.0	.	683;667;670;441;710	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	R	659;670;670;659;659;659;659;643;633;667;710;441;135	ENSP00000362929:W659R;ENSP00000411293:W670R;ENSP00000377882:W670R;ENSP00000409358:W659R;ENSP00000416586:W659R;ENSP00000340888:W659R;ENSP00000362914:W659R;ENSP00000445823:W667R;ENSP00000362924:W710R;ENSP00000362913:W441R;ENSP00000362912:W135R	ENSP00000340888:W659R	W	+	1	0	GSN	123133496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.908000	0.75730	2.281000	0.76405	0.533000	0.62120	TGG	GSN	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	ENSG00000148180		0.557	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1		0.00	42	0	T	NM_000177		124093675	+1			no_errors	ENST00000373818	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	C
GTF2IRD1	9569	genome.wustl.edu	37	7	73971992	73971992	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:73971992C>T	ENST00000265755.3	+	20	2485	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R683W|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R715W|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R683W|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	698					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R698W(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGGCTCTCACGGATCGACAT	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											61.0	55.0	57.0					7																	73971992		2203	4300	6503	SO:0001583	missense	0			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2092C>T	7.37:g.73971992C>T	ENSP00000265755:p.Arg698Trp		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.R698W	ENST00000265755.3	37	c.2092	CCDS5571.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.00|16.00	2.997651|2.997651	0.54147|0.54147	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977|ENST00000470715	T;T;T;T|.	0.39787|.	1.06;1.06;1.08;1.06|.	4.2|4.2	3.29|3.29	0.37713|0.37713	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.57636|0.57636	0.2067|0.2067	L|L	0.46157|0.46157	1.445|1.445	0.51767|0.51767	D|D	0.99993|0.99993	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.988;0.982;1.0;1.0|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.87932|.	D|.	0|.	-14.676|-14.676	11.2995|11.2995	0.49298|0.49298	0.348:0.652:0.0:0.0|0.348:0.652:0.0:0.0	.|.	715;683;698;683|.	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2|.	.;.;GT2D1_HUMAN;.|.	W|M	698;715;683;683|60	ENSP00000265755:R698W;ENSP00000397566:R715W;ENSP00000408477:R683W;ENSP00000418383:R683W|.	ENSP00000265755:R698W|.	R|T	+|+	1|2	2|0	GTF2IRD1|GTF2IRD1	73609928|73609928	0.336000|0.336000	0.24757|0.24757	0.526000|0.526000	0.27913|0.27913	0.476000|0.476000	0.33039|0.33039	0.789000|0.789000	0.26886|0.26886	0.855000|0.855000	0.35359|0.35359	0.655000|0.655000	0.94253|0.94253	CGG|ACG	GTF2IRD1	-	superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	ENSG00000006704		0.488	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2		0.00	41	0	C	NM_016328		73971992	+1			no_errors	ENST00000265755	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.865	T
GUCY1B2	2974	genome.wustl.edu	37	13	51568781	51568781	+	RNA	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:51568781C>T	ENST00000493639.2	-	0	2736					NR_003923.2		O75343	GCYB2_HUMAN	guanylate cyclase 1, soluble, beta 2 (pseudogene)						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)										GAAAATTAAGCCCAGGGGTTC	0.443																																																	0																																												0			AF038499		13q14.3	2012-04-19	2012-04-19		ENSG00000123201	ENSG00000123201	4.6.1.2		4686	pseudogene	pseudogene		603695	"""guanylate cyclase 1, soluble, beta 2"""			9889008, 10449911	Standard	NR_003923		Approved	GC-SB2	uc010tgo.2	O75343	OTTHUMG00000016940		13.37:g.51568781C>T			Q9NZ64	RNA	SNP	-	NULL	ENST00000493639.2	37	NULL		13																																																																																			GUCY1B2	-	-	ENSG00000123201		0.443	GUCY1B2-001	KNOWN	basic	processed_transcript	GUCY1B2	HGNC	pseudogene	OTTHUMT00000045014.3	-	0.00	25	0	C			51568781	-1	tier1	-	no_errors	ENST00000493639	ensembl	human	known	74_37	rna	20.00	16	4	SNP	0.000	T
GYS1	2997	genome.wustl.edu	37	19	49490517	49490517	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:49490517C>T	ENST00000323798.3	-	3	622	c.426G>A	c.(424-426)ccG>ccA	p.P142P	GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000541188.1_Silent_p.P62P|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Silent_p.P62P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	142					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGTCGTACCACGGCACTCCGA	0.632																																																	0													89.0	64.0	73.0					19																	49490517		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.426G>A	19.37:g.49490517C>T			Q9BTT9	Silent	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.P142	ENST00000323798.3	37	c.426	CCDS12747.1	19																																																																																			GYS1	-	pfam_Glycogen_synth	ENSG00000104812		0.632	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	-	0.00	76	0	C	NM_002103		49490517	-1	tier1	-	no_errors	ENST00000323798	ensembl	human	known	74_37	silent	45.16	34	28	SNP	0.892	T
HAUS3	79441	genome.wustl.edu	37	4	2240640	2240640	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:2240640A>G	ENST00000243706.4	-	3	1269	c.1040T>C	c.(1039-1041)tTg>tCg	p.L347S	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.L347S|HAUS3_ENST00000443786.2_Missense_Mutation_p.L347S|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	347					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGCATATTCAATAACTGGGC	0.333																																																	0													136.0	142.0	140.0					4																	2240640		2202	4300	6502	SO:0001583	missense	0			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1040T>C	4.37:g.2240640A>G	ENSP00000243706:p.Leu347Ser		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	NULL	p.L347S	ENST00000243706.4	37	c.1040	CCDS33941.1	4	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499413	0.64298	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.46063	0.88;0.88	5.87	5.87	0.94306	.	0.099747	0.43747	U	0.000533	T	0.58680	0.2139	M	0.69823	2.125	0.51767	D	0.999932	D;D	0.63880	0.993;0.993	D;D	0.66602	0.945;0.945	T	0.56481	-0.7972	10	0.08599	T	0.76	-0.2149	15.4378	0.75160	1.0:0.0:0.0:0.0	.	347;347	B4DF64;Q68CZ6	.;HAUS3_HUMAN	S	347	ENSP00000243706:L347S;ENSP00000392903:L347S	ENSP00000243706:L347S	L	-	2	0	HAUS3	2210438	0.997000	0.39634	0.991000	0.47740	0.605000	0.37080	6.412000	0.73303	2.242000	0.73789	0.482000	0.46254	TTG	HAUS3	-	NULL	ENSG00000214367		0.333	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	HGNC	protein_coding	OTTHUMT00000357446.1		0.00	64	0	A	NM_024511		2240640	-1			no_errors	ENST00000243706	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.989	G
HERC4	26091	genome.wustl.edu	37	10	69804297	69804297	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:69804297G>T	ENST00000395198.3	-	4	497	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	HERC4_ENST00000395187.2_Intron|HERC4_ENST00000412272.2_Missense_Mutation_p.Q84K|HERC4_ENST00000373700.4_Missense_Mutation_p.Q84K	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	84					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACAATATTTTGGGCATCCAGG	0.413																																																	0													153.0	129.0	137.0					10																	69804297		2203	4300	6503	SO:0001583	missense	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.250C>A	10.37:g.69804297G>T	ENSP00000378624:p.Gln84Lys		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Q84K	ENST00000395198.3	37	c.250	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781310	0.70222	.	.	ENSG00000148634	ENST00000412272;ENST00000395198;ENST00000373700;ENST00000513996	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.54	5.54	0.83059	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	N	0.02973	-0.45	0.80722	D	1	D;P;B;B	0.57257	0.979;0.905;0.33;0.382	D;P;B;B	0.63703	0.917;0.579;0.171;0.262	T	0.82812	-0.0272	9	.	.	.	.	19.4692	0.94956	0.0:0.0:1.0:0.0	.	84;84;84;84	Q5GLZ8-3;A8K9U4;Q5GLZ8-2;Q5GLZ8	.;.;.;HERC4_HUMAN	K	84	ENSP00000416504:Q84K;ENSP00000378624:Q84K;ENSP00000362804:Q84K;ENSP00000427191:Q84K	.	Q	-	1	0	HERC4	69474303	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.790000	0.99075	2.596000	0.87737	0.591000	0.81541	CAA	HERC4	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000148634		0.413	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1		0.00	68	0	G	NM_015601		69804297	-1			no_errors	ENST00000395198	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	T
HIST1H1D	3007	genome.wustl.edu	37	6	26234761	26234761	+	Missense_Mutation	SNP	C	C	G	rs148166404		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:26234761C>G	ENST00000244534.5	-	1	455	c.401G>C	c.(400-402)gGg>gCg	p.G134A		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	134					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGGCTGCCCCAGCAGGCTT	0.572																																																	0													54.0	60.0	58.0					6																	26234761		2203	4300	6503	SO:0001583	missense	0			M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.401G>C	6.37:g.26234761C>G	ENSP00000244534:p.Gly134Ala		B2R751|Q2M2I2	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.G134A	ENST00000244534.5	37	c.401	CCDS4597.1	6	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.491054	0.01009	.	.	ENSG00000124575	ENST00000244534	T	0.14266	2.52	5.22	2.24	0.28232	.	0.343062	0.23103	N	0.051900	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47959	-0.9076	10	0.02654	T	1	-7.0711	11.1805	0.48625	0.1268:0.6216:0.2516:0.0	.	134	P16402	H13_HUMAN	A	134	ENSP00000244534:G134A	ENSP00000244534:G134A	G	-	2	0	HIST1H1D	26342740	0.007000	0.16637	0.003000	0.11579	0.000000	0.00434	0.167000	0.16602	0.288000	0.22398	-0.810000	0.03169	GGG	HIST1H1D	-	prints_Histone_H5	ENSG00000124575		0.572	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1D	HGNC	protein_coding	OTTHUMT00000040095.1	-	0.00	51	0	C	NM_005320		26234761	-1	tier1	-	no_errors	ENST00000244534	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.011	G
HMCN1	83872	genome.wustl.edu	37	1	186007987	186007987	+	Missense_Mutation	SNP	C	C	G	rs551177452		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:186007987C>G	ENST00000271588.4	+	38	6107	c.5878C>G	c.(5878-5880)Cta>Gta	p.L1960V	HMCN1_ENST00000367492.2_Missense_Mutation_p.L1960V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1960	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATAATCGTCTACTCTCAGG	0.358																																																	0													114.0	112.0	112.0					1																	186007987		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5878C>G	1.37:g.186007987C>G	ENSP00000271588:p.Leu1960Val		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L1960V	ENST00000271588.4	37	c.5878	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	6.359	0.434299	0.12045	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.155509	0.64402	D	0.000017	T	0.62780	0.2456	L	0.43701	1.375	0.27466	N	0.952999	B	0.27971	0.196	B	0.35073	0.195	T	0.56294	-0.8003	10	0.30078	T	0.28	.	14.7454	0.69488	0.0:0.9296:0.0:0.0704	.	1960	Q96RW7	HMCN1_HUMAN	V	1960	ENSP00000271588:L1960V;ENSP00000356462:L1960V	ENSP00000271588:L1960V	L	+	1	2	HMCN1	184274610	0.310000	0.24527	0.017000	0.16124	0.021000	0.10359	2.777000	0.47717	2.882000	0.98803	0.655000	0.94253	CTA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	53	0	C	NM_031935		186007987	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.899	G
HTATSF1	27336	genome.wustl.edu	37	X	135591328	135591330	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:135591328_135591330delCTT	ENST00000218364.4	+	7	1087_1089	c.913_915delCTT	c.(913-915)cttdel	p.L306del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.L306del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	306	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAGGAAACTCCTTCTCTTTGATG	0.374																																																	0																																										SO:0001651	inframe_deletion	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.913_915delCTT	X.37:g.135591328_135591330delCTT	ENSP00000218364:p.Leu306del		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L306in_frame_del	ENST00000218364.4	37	c.913_915	CCDS14657.1	X																																																																																			HTATSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000102241		0.374	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1		0.00	30	0	CTT	NM_014500		135591330	+1	tier1		no_errors	ENST00000218364	ensembl	human	known	74_37	in_frame_del	35.56	29	16	DEL	1.000:1.000:0.999	-
HTR1E	3354	genome.wustl.edu	37	6	87725772	87725772	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:87725772G>T	ENST00000305344.5	+	2	1423	c.720G>T	c.(718-720)caG>caT	p.Q240H		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	240					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AACTTACACAGACTTTCTGTG	0.473																																																	0													144.0	148.0	147.0					6																	87725772		2203	4300	6503	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.720G>T	6.37:g.87725772G>T	ENSP00000307766:p.Gln240His		E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.Q240H	ENST00000305344.5	37	c.720	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	G	7.407	0.633928	0.14322	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.66995	-0.24;-0.24	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.092832	0.44097	U	0.000488	T	0.39655	0.1086	N	0.20881	0.62	0.35145	D	0.769193	B	0.13145	0.007	B	0.15052	0.012	T	0.34601	-0.9822	10	0.39692	T	0.17	.	16.925	0.86174	0.0:0.0:1.0:0.0	.	240	P28566	5HT1E_HUMAN	H	240	ENSP00000307766:Q240H;ENSP00000358597:Q240H	ENSP00000307766:Q240H	Q	+	3	2	HTR1E	87782491	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	1.934000	0.40163	2.004000	0.58718	0.205000	0.17691	CAG	HTR1E	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000168830		0.473	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2		0.00	27	0	G	NM_000865		87725772	+1			no_errors	ENST00000305344	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T
IAH1	285148	genome.wustl.edu	37	2	9618381	9618381	+	Silent	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:9618381A>G	ENST00000497473.1	+	3	202	c.165A>G	c.(163-165)tcA>tcG	p.S55S	IAH1_ENST00000545602.1_5'UTR|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000470914.1_5'UTR	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	55					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGGATTTTCAGGTTACAATA	0.388																																																	0													86.0	80.0	82.0					2																	9618381		1828	4087	5915	SO:0001819	synonymous_variant	0			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.165A>G	2.37:g.9618381A>G			B4DMV3	Splice_Site	SNP	-	e2-2	ENST00000497473.1	37	c.82-2	CCDS42651.1	2	.	.	.	.	.	.	.	.	.	.	A	15.31	2.796995	0.50208	.	.	ENSG00000134330	ENST00000481367	.	.	.	5.86	3.43	0.39272	.	.	.	.	.	T	0.47097	0.1427	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33137	-0.9880	4	.	.	.	-19.5264	3.6715	0.08276	0.4581:0.0:0.151:0.3908	.	.	.	.	R	35	.	.	Q	+	2	0	IAH1	9535832	0.042000	0.20092	1.000000	0.80357	0.973000	0.67179	-0.528000	0.06193	0.444000	0.26612	0.533000	0.62120	CAG	IAH1	-	-	ENSG00000134330		0.388	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IAH1	HGNC	protein_coding	OTTHUMT00000353192.1		0.00	74	0	A	NM_001039613		9618381	+1			no_errors	ENST00000492223	ensembl	human	known	74_37	splice_site	5.26	72	4	SNP	0.979	G
ING1	3621	genome.wustl.edu	37	13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T	rs368239053		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:111372025C>T	ENST00000375774.3	+	2	1477	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	ING1_ENST00000338450.7_Nonsense_Mutation_p.R152*|ING1_ENST00000333219.7_Nonsense_Mutation_p.R196*|ING1_ENST00000375775.3_Nonsense_Mutation_p.R127*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	339					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R196*(3)|p.R339*(1)|p.R152*(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAAGGCGGAGCGAGAGGCGTC	0.627																																																	5	Substitution - Nonsense(5)	endometrium(3)|large_intestine(2)											102.0	71.0	81.0					13																	111372025		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.1015C>T	13.37:g.111372025C>T	ENSP00000364929:p.Arg339*		O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R339*	ENST00000375774.3	37	c.1015	CCDS9517.1	13	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461577	0.63513	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	.	.	.	5.41	-4.77	0.03219	.	0.047098	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-45.0616	23.0881	0.99979	0.1965:0.8034:0.0:0.0	.	.	.	.	X	152;196;127;339	.	ENSP00000328436:R196X	R	+	1	2	ING1	110170026	0.974000	0.33945	0.853000	0.33588	0.380000	0.30137	0.240000	0.18042	-1.095000	0.03050	-0.500000	0.04577	CGA	ING1	-	superfamily_Znf_FYVE_PHD	ENSG00000153487		0.627	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	-	0.00	23	0	C	NM_005537		111372025	+1	tier1	-	no_errors	ENST00000375774	ensembl	human	known	74_37	nonsense	47.37	10	9	SNP	0.949	T
INPP5B	3633	genome.wustl.edu	37	1	38355337	38355337	+	Missense_Mutation	SNP	G	G	A	rs376586874		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:38355337G>A	ENST00000373026.1	-	8	929	c.929C>T	c.(928-930)tCg>tTg	p.S310L	INPP5B_ENST00000373024.3_Missense_Mutation_p.S230L|INPP5B_ENST00000467066.1_5'Flank|INPP5B_ENST00000373023.2_Missense_Mutation_p.S310L|INPP5B_ENST00000373027.1_Missense_Mutation_p.S66L|INPP5B_ENST00000458109.2_5'UTR			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	310					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCCTTGTCCGACACTGTGAT	0.393																																																	0								G	LEU/SER	0,3724		0,0,1862	157.0	148.0	151.0		689	5.8	0.9	1		151	1,8199		0,1,4099	no	missense	INPP5B	NM_005540.2	145	0,1,5961	AA,AG,GG		0.0122,0.0,0.0084	benign	230/914	38355337	1,11923	1862	4100	5962	SO:0001583	missense	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.929C>T	1.37:g.38355337G>A	ENSP00000362117:p.Ser310Leu		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S310L	ENST00000373026.1	37	c.929		1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146218	0.37923	0.0	1.22E-4	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.93133	-3.17;-3.06;-3.06;-3.01	5.85	5.85	0.93711	.	1.390210	0.04226	N	0.334457	D	0.93194	0.7832	M	0.64404	1.975	0.80722	D	1	P;P	0.48016	0.904;0.865	B;B	0.39217	0.154;0.294	D	0.85347	0.1099	10	0.54805	T	0.06	.	15.7433	0.77920	0.0:0.0:0.8629:0.1371	.	310;230	P32019;P32019-2	I5P2_HUMAN;.	L	66;310;310;310;230	ENSP00000362118:S66L;ENSP00000362114:S310L;ENSP00000362117:S310L;ENSP00000362115:S230L	ENSP00000362114:S310L	S	-	2	0	INPP5B	38127924	0.984000	0.35163	0.943000	0.38184	0.186000	0.23388	4.275000	0.58927	2.768000	0.95171	0.655000	0.94253	TCG	INPP5B	-	NULL	ENSG00000204084		0.393	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	-	0.00	46	0	G	NM_005540		38355337	-1	tier1	-	no_errors	ENST00000373023	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.472	A
IQCA1	79781	genome.wustl.edu	37	2	237246938	237246938	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:237246938G>A	ENST00000409907.3	-	17	2318	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	IQCA1_ENST00000431676.2_Missense_Mutation_p.R641W|IQCA1_ENST00000309507.5_Missense_Mutation_p.R679W	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	682							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AAGGGACGCCGTGTGGTCCCC	0.473																																																	0													104.0	107.0	106.0					2																	237246938		1846	4091	5937	SO:0001583	missense	0			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.2044C>T	2.37:g.237246938G>A	ENSP00000387347:p.Arg682Trp		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.R682W	ENST00000409907.3	37	c.2044	CCDS46549.1	2	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801797	0.50315	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676	D;D;D	0.88818	-2.43;-2.43;-2.43	5.47	1.02	0.19986	ATPase, AAA-type, core (1);	1.200600	0.06006	N	0.648737	D	0.93278	0.7858	M	0.65498	2.005	0.09310	N	1	D;D;D	0.67145	0.977;0.992;0.996	P;P;P	0.58970	0.773;0.849;0.849	D	0.84565	0.0652	10	0.72032	D	0.01	.	16.7669	0.85526	0.0:0.0:0.5127:0.4873	.	641;690;682	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	W	682;690;679;641	ENSP00000387347:R682W;ENSP00000311951:R679W;ENSP00000407213:R641W	ENSP00000311951:R679W	R	-	1	2	IQCA1	236911677	0.000000	0.05858	0.132000	0.22025	0.706000	0.40770	0.092000	0.15066	0.258000	0.21686	-0.188000	0.12872	CGG	IQCA1	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase	ENSG00000132321		0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	-	0.00	73	0	G	NM_024726		237246938	-1	tier1	-	no_errors	ENST00000409907	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.001	A
ITCH	83737	genome.wustl.edu	37	20	33000369	33000369	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr20:33000369G>C	ENST00000262650.6	+	5	397	c.261G>C	c.(259-261)caG>caC	p.Q87H	ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000374864.4_Missense_Mutation_p.Q87H			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	87	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGAGTCACCAGACACTGAAAT	0.303																																																	0													89.0	83.0	85.0					20																	33000369		2202	4299	6501	SO:0001583	missense	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.261G>C	20.37:g.33000369G>C	ENSP00000262650:p.Gln87His		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.Q87H	ENST00000262650.6	37	c.261	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493096	0.26774	.	.	ENSG00000078747	ENST00000374864;ENST00000262650	T;T	0.66995	-0.24;-0.24	5.9	5.9	0.94986	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	N	0.03016	-0.435	0.80722	D	1	D;B	0.71674	0.998;0.017	D;B	0.85130	0.997;0.048	T	0.57069	-0.7874	10	0.02654	T	1	.	14.4406	0.67314	0.072:0.0:0.928:0.0	.	87;87	Q96J02;Q5QP37	ITCH_HUMAN;.	H	87	ENSP00000363998:Q87H;ENSP00000262650:Q87H	ENSP00000262650:Q87H	Q	+	3	2	ITCH	32464030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.793000	0.96121	0.563000	0.77884	CAG	ITCH	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000078747		0.303	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	-	0.00	56	0	G			33000369	+1	tier1	-	no_errors	ENST00000262650	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	C
KCNF1	3754	genome.wustl.edu	37	2	11053168	11053168	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:11053168G>A	ENST00000295082.1	+	1	1106	c.616G>A	c.(616-618)Gag>Aag	p.E206K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	206					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CACCATCCCCGAGCTGCAGGT	0.672																																																	0													48.0	53.0	51.0					2																	11053168		2203	4299	6502	SO:0001583	missense	0			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.616G>A	2.37:g.11053168G>A	ENSP00000295082:p.Glu206Lys		O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.E206K	ENST00000295082.1	37	c.616	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327302	0.81690	.	.	ENSG00000162975	ENST00000295082	D	0.97710	-4.5	5.11	5.11	0.69529	.	0.152217	0.64402	D	0.000020	D	0.95746	0.8616	M	0.68317	2.08	0.58432	D	0.999998	P	0.40638	0.725	B	0.29663	0.105	D	0.95334	0.8432	10	0.24483	T	0.36	.	18.9073	0.92467	0.0:0.0:1.0:0.0	.	206	Q9H3M0	KCNF1_HUMAN	K	206	ENSP00000295082:E206K	ENSP00000295082:E206K	E	+	1	0	KCNF1	10970619	1.000000	0.71417	0.985000	0.45067	0.999000	0.98932	9.813000	0.99286	2.523000	0.85059	0.655000	0.94253	GAG	KCNF1	-	prints_K_chnl_volt-dep_Kv1	ENSG00000162975		0.672	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	-	0.00	61	0	G	NM_002236		11053168	+1	tier1	-	no_errors	ENST00000295082	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	A
KCNT2	343450	genome.wustl.edu	37	1	196250003	196250003	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:196250003A>C	ENST00000294725.9	-	25	3812	c.2897T>G	c.(2896-2898)cTt>cGt	p.L966R	KCNT2_ENST00000367433.5_Missense_Mutation_p.L942R|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.L892R|KCNT2_ENST00000367431.4_Missense_Mutation_p.L892R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	966					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.L966R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGATGTAGTAAGTTTCTGAGA	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											93.0	95.0	94.0					1																	196250003		2203	4300	6503	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2897T>G	1.37:g.196250003A>C	ENSP00000294725:p.Leu966Arg		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.L966R	ENST00000294725.9	37	c.2897	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021575	0.54576	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78246	-1.16;-1.16;-1.16	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000056	T	0.77075	0.4077	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P	0.51147	0.904;0.942;0.714;0.823;0.904	B;P;P;P;B	0.49799	0.418;0.622;0.499;0.499;0.418	T	0.73216	-0.4053	10	0.13470	T	0.59	-12.0344	14.9129	0.70773	1.0:0.0:0.0:0.0	.	966;924;942;892;966	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	R	942;892;966	ENSP00000356403:L942R;ENSP00000356401:L892R;ENSP00000294725:L966R	ENSP00000294725:L966R	L	-	2	0	KCNT2	194516626	1.000000	0.71417	0.507000	0.27676	0.995000	0.86356	8.347000	0.90062	2.222000	0.72286	0.455000	0.32223	CTT	KCNT2	-	NULL	ENSG00000162687		0.328	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0.00	61	0	A	NM_198503		196250003	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	21.43	44	12	SNP	0.977	C
KIAA1244	57221	genome.wustl.edu	37	6	138599613	138599613	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:138599613C>T	ENST00000251691.4	+	13	2320	c.2154C>T	c.(2152-2154)gaC>gaT	p.D718D		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGGCTTTGACGGGAATAGCA	0.567																																																	0													234.0	195.0	208.0					6																	138599613		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2154C>T	6.37:g.138599613C>T				Silent	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.D718	ENST00000251691.4	37	c.2154	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	ENSG00000112379		0.567	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0.00	36	0	C	NM_020340		138599613	+1	tier1	-	no_errors	ENST00000251691	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.000	T
KIAA2026	158358	genome.wustl.edu	37	9	5922828	5922828	+	Silent	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:5922828G>T	ENST00000399933.3	-	8	3167	c.3168C>A	c.(3166-3168)acC>acA	p.T1056T	KIAA2026_ENST00000381461.2_Silent_p.T1026T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1056										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTTTTGTATTGGTGTGGCAGG	0.453																																																	0													109.0	101.0	103.0					9																	5922828		1893	4118	6011	SO:0001819	synonymous_variant	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3168C>A	9.37:g.5922828G>T			A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	superfamily_Bromodomain	p.T1056	ENST00000399933.3	37	c.3168		9																																																																																			KIAA2026	-	NULL	ENSG00000183354		0.453	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	-	0.00	61	0	G	NM_001017969		5922828	-1	tier1	-	no_errors	ENST00000399933	ensembl	human	novel	74_37	silent	8.00	46	4	SNP	0.639	T
KIF9	64147	genome.wustl.edu	37	3	47284565	47284565	+	Missense_Mutation	SNP	G	G	A	rs201012739		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:47284565G>A	ENST00000265529.3	-	17	2365	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Missense_Mutation_p.P562L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Missense_Mutation_p.P562L			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	562					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCTCCTTCGGGGAGTCTGA	0.498																																					Colon(44;962 1147 15977 24541)												0													94.0	88.0	90.0					3																	47284565		2203	4300	6503	SO:0001583	missense	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1685C>T	3.37:g.47284565G>A	ENSP00000265529:p.Pro562Leu		Q86Z28|Q9H8A4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P562L	ENST00000265529.3	37	c.1685	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567520	0.45694	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000452770	T;T;T	0.54866	0.55;0.55;0.55	5.83	5.83	0.93111	.	0.062566	0.64402	D	0.000006	T	0.50429	0.1615	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.49361	0.608	T	0.40327	-0.9569	10	0.31617	T	0.26	.	15.6167	0.76773	0.0:0.0:1.0:0.0	.	562	Q9HAQ2	KIF9_HUMAN	L	562	ENSP00000333942:P562L;ENSP00000265529:P562L;ENSP00000391100:P562L	ENSP00000265529:P562L	P	-	2	0	KIF9	47259569	1.000000	0.71417	0.947000	0.38551	0.315000	0.28087	3.800000	0.55537	2.758000	0.94735	0.655000	0.94253	CCG	KIF9	-	NULL	ENSG00000088727		0.498	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	-	0.00	51	0	G			47284565	-1	tier1	rs201012739	no_errors	ENST00000265529	ensembl	human	known	74_37	missense	41.07	33	23	SNP	0.879	A
KLHL15	80311	genome.wustl.edu	37	X	24006110	24006110	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:24006110C>G	ENST00000328046.8	-	4	1998	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	581					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AACCATCCAGCTTGCAGGGCA	0.463																																																	0													126.0	102.0	111.0					X																	24006110		2203	4300	6503	SO:0001583	missense	0			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1743G>C	X.37:g.24006110C>G	ENSP00000332791:p.Lys581Asn		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K581N	ENST00000328046.8	37	c.1743	CCDS35217.1	X	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528402	0.44969	.	.	ENSG00000174010	ENST00000328046	T	0.67345	-0.26	5.94	4.17	0.49024	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	L	0.39898	1.24	0.50813	D	0.999892	D	0.57899	0.981	D	0.67231	0.95	T	0.69826	-0.5040	10	0.35671	T	0.21	.	12.1651	0.54125	0.0:0.8562:0.0:0.1438	.	581	Q96M94	KLH15_HUMAN	N	581	ENSP00000332791:K581N	ENSP00000332791:K581N	K	-	3	2	KLHL15	23916031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.898000	0.39809	1.256000	0.44068	0.506000	0.49869	AAG	KLHL15	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000174010		0.463	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	-	0.00	30	0	C	XM_040383		24006110	-1	tier1	-	no_errors	ENST00000328046	ensembl	human	known	74_37	missense	58.97	16	23	SNP	1.000	G
KLHL26	55295	genome.wustl.edu	37	19	18779956	18779956	+	Silent	SNP	G	G	A	rs368665940		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:18779956G>A	ENST00000300976.4	+	3	1839	c.1749G>A	c.(1747-1749)acG>acA	p.T583T	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	583										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGTACAACACGGACACCGACG	0.657																																																	0													29.0	32.0	31.0					19																	18779956		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1749G>A	19.37:g.18779956G>A			Q8TAP0|Q9NUX3	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T583	ENST00000300976.4	37	c.1749	CCDS12384.1	19																																																																																			KLHL26	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000167487		0.657	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL26	HGNC	protein_coding	OTTHUMT00000465145.1	-	0.00	112	0	G	NM_018316		18779956	+1	tier1	-	no_errors	ENST00000300976	ensembl	human	known	74_37	silent	25.25	74	25	SNP	0.000	A
KMO	8564	genome.wustl.edu	37	1	241714280	241714280	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:241714280G>A	ENST00000366559.4	+	4	559	c.248G>A	c.(247-249)aGa>aAa	p.R83K	KMO_ENST00000366557.4_Missense_Mutation_p.R83K|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.R83K	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATTCCCATGAGAGCAAGAATG	0.378																																																	0													189.0	185.0	187.0					1																	241714280		2203	4300	6503	SO:0001583	missense	0			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.248G>A	1.37:g.241714280G>A	ENSP00000355517:p.Arg83Lys			Missense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like	p.R83K	ENST00000366559.4	37	c.248	CCDS1618.1	1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639767	0.29157	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.48522	0.81;0.81;0.81	6.17	4.22	0.49857	Monooxygenase, FAD-binding (1);	0.297863	0.40908	N	0.000998	T	0.29491	0.0735	L	0.28054	0.825	0.26352	N	0.977182	B;B;B	0.15141	0.009;0.009;0.012	B;B;B	0.16289	0.015;0.015;0.009	T	0.20907	-1.0261	10	0.11182	T	0.66	.	8.1265	0.31001	0.1954:0.0:0.8046:0.0	.	83;83;83	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	K	83	ENSP00000355517:R83K;ENSP00000355516:R83K;ENSP00000355515:R83K	ENSP00000355515:R83K	R	+	2	0	KMO	239780903	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.508000	0.35769	0.844000	0.35094	-0.345000	0.07892	AGA	KMO	-	pfam_mOase_FAD-bd	ENSG00000117009		0.378	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMO	HGNC	protein_coding	OTTHUMT00000095612.1	-	0.00	84	0	G	NM_003679		241714280	+1	tier1	-	no_errors	ENST00000366559	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
KRT27	342574	genome.wustl.edu	37	17	38936058	38936058	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:38936058G>A	ENST00000301656.3	-	4	780	c.740C>T	c.(739-741)gCg>gTg	p.A247V	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCCGGGGGCCGCGTTCATCTC	0.522																																																	0													53.0	55.0	54.0					17																	38936058		2203	4300	6503	SO:0001583	missense	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.740C>T	17.37:g.38936058G>A	ENSP00000301656:p.Ala247Val			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.A247V	ENST00000301656.3	37	c.740	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.637744	0.96693	.	.	ENSG00000171446	ENST00000301656	D	0.89415	-2.51	5.52	5.52	0.82312	Filament (1);	0.000000	0.64402	D	0.000015	D	0.94212	0.8142	M	0.71036	2.16	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.94369	0.7594	10	0.87932	D	0	.	18.7774	0.91916	0.0:0.0:1.0:0.0	.	247	Q7Z3Y8	K1C27_HUMAN	V	247	ENSP00000301656:A247V	ENSP00000301656:A247V	A	-	2	0	KRT27	36189584	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.336000	0.96533	2.754000	0.94517	0.591000	0.81541	GCG	KRT27	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	ENSG00000171446		0.522	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1		0.00	39	0	G	NM_181537		38936058	-1			no_errors	ENST00000301656	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
KRT6B	3854	genome.wustl.edu	37	12	52845660	52845660	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:52845660T>C	ENST00000252252.3	-	1	250	c.203A>G	c.(202-204)aAg>aGg	p.K68R		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	68	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.K68R(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGAGATCCTCTTGGAGCCCCC	0.652																																																	1	Substitution - Missense(1)	ovary(1)											16.0	19.0	18.0					12																	52845660		1928	3912	5840	SO:0001583	missense	0			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.203A>G	12.37:g.52845660T>C	ENSP00000252252:p.Lys68Arg		P48669	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.K68R	ENST00000252252.3	37	c.203	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	T	0.495	-0.873352	0.02570	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.75260	-0.92	3.07	0.622	0.17648	.	0.502462	0.19667	N	0.108842	T	0.54902	0.1887	L	0.39326	1.205	0.28661	N	0.906116	B	0.06786	0.001	B	0.04013	0.001	T	0.32640	-0.9899	10	0.09084	T	0.74	.	4.1344	0.10164	0.0:0.1926:0.1781:0.6292	.	68	P04259	K2C6B_HUMAN	R	68	ENSP00000252252:K68R	ENSP00000252252:K68R	K	-	2	0	KRT6B	51131927	.	.	0.998000	0.56505	0.381000	0.30169	.	.	0.131000	0.18576	0.248000	0.18094	AAG	KRT6B	-	NULL	ENSG00000185479		0.652	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	-	0.00	119	0	T	NM_005555		52845660	-1	tier1	-	no_errors	ENST00000252252	ensembl	human	known	74_37	missense	9.09	110	11	SNP	0.999	C
KRTAP26-1	388818	genome.wustl.edu	37	21	31692195	31692195	+	Silent	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr21:31692195T>C	ENST00000360542.3	-	1	412	c.159A>G	c.(157-159)acA>acG	p.T53T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	53						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGCAGTTGTCTGTGACCCAGG	0.552																																																	0													124.0	121.0	122.0					21																	31692195		2203	4300	6503	SO:0001819	synonymous_variant	0			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.159A>G	21.37:g.31692195T>C			B0RZD3	Silent	SNP	pfam_KRTAP_PMG	p.T53	ENST00000360542.3	37	c.159	CCDS13588.1	21																																																																																			KRTAP26-1	-	pfam_KRTAP_PMG	ENSG00000197683		0.552	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP26-1	HGNC	protein_coding	OTTHUMT00000128218.1	-	0.00	44	0	T	NM_203405		31692195	-1	tier1	-	no_errors	ENST00000360542	ensembl	human	known	74_37	silent	35.00	39	21	SNP	0.206	C
LAMA2	3908	genome.wustl.edu	37	6	129635907	129635907	+	Silent	SNP	C	C	T	rs141150540		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:129635907C>T	ENST00000421865.2	+	24	3568	c.3519C>T	c.(3517-3519)acC>acT	p.T1173T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1173	Laminin EGF-like 14; first part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCACTACTACCCAGTGCTCTG	0.517																																																	0								C	,	0,4406		0,0,2203	82.0	78.0	79.0		3519,3519	-1.4	0.8	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1173/3123,1173/3119	129635907	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3519C>T	6.37:g.129635907C>T			Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.T1173	ENST00000421865.2	37	c.3519	CCDS5138.1	6																																																																																			LAMA2	-	NULL	ENSG00000196569		0.517	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0.00	45	0	C			129635907	+1	tier1	rs141150540	no_errors	ENST00000421865	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.103	T
LDLR	3949	genome.wustl.edu	37	19	11231050	11231050	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:11231050G>A	ENST00000558518.1	+	14	2179	c.1992G>A	c.(1990-1992)gtG>gtA	p.V664V	LDLR_ENST00000545707.1_Intron|LDLR_ENST00000455727.2_Silent_p.V496V|LDLR_ENST00000558013.1_Silent_p.V664V|LDLR_ENST00000557933.1_Silent_p.V664V|LDLR_ENST00000535915.1_Silent_p.V623V	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	664	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CCCCAGGAGTGAACTGGTGTG	0.557																																					GBM(18;201 575 7820 21545)												1	Unknown(1)	lung(1)											54.0	55.0	54.0					19																	11231050		2203	4300	6503	SO:0001819	synonymous_variant	0			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1992G>A	19.37:g.11231050G>A			B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V664	ENST00000558518.1	37	c.1992	CCDS12254.1	19																																																																																			LDLR	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000130164		0.557	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2	-	0.00	49	0	G			11231050	+1	tier1	-	no_errors	ENST00000558518	ensembl	human	known	74_37	silent	21.15	41	11	SNP	0.012	A
LIPM	340654	genome.wustl.edu	37	10	90579988	90579988	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:90579988G>T	ENST00000404743.4	+	9	1169		c.e9-1		LIPM_ENST00000539337.1_Splice_Site|ANKRD22_ENST00000476963.1_5'Flank	NM_001128215.1	NP_001121687.1	Q5VYY2	LIPM_HUMAN	lipase, family member M						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						CTTTTCTCTAGCCAACTCCTG	0.408																																																	0													66.0	53.0	57.0					10																	90579988		692	1591	2283	SO:0001630	splice_region_variant	0				CCDS44457.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000173239	ENSG00000173239			23455	protein-coding gene	gene with protein product		613923	"""lipase-like, ab-hydrolase domain containing 3"""	LIPL3			Standard	NM_001128215		Approved	bA304I5.1	uc009xtm.1	Q5VYY2	OTTHUMG00000018698	ENST00000404743.4:c.1003-1G>T	10.37:g.90579988G>T			A6PVS3|B2RXK7|B5MCR3	Splice_Site	SNP	-	e9-1	ENST00000404743.4	37	c.1003-1	CCDS44457.1	10	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388354	0.82902	.	.	ENSG00000173239	ENST00000404743;ENST00000539337	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIPM	90569968	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.293000	0.96082	2.713000	0.92767	0.655000	0.94253	.	LIPM	-	-	ENSG00000173239		0.408	LIPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPM	HGNC	protein_coding	OTTHUMT00000049261.3	-	0.00	27	0	G	XM_291663	Intron	90579988	+1	tier1	-	no_errors	ENST00000404743	ensembl	human	known	74_37	splice_site	12.00	22	3	SNP	1.000	T
LPCAT1	79888	genome.wustl.edu	37	5	1470999	1470999	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:1470999G>A	ENST00000283415.3	-	12	1352	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	407	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GACAGACAGGGCAACCACACA	0.657																																																	0													73.0	78.0	77.0					5																	1470999		2203	4300	6503	SO:0001583	missense	0			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1220C>T	5.37:g.1470999G>A	ENSP00000283415:p.Ala407Val		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A407V	ENST00000283415.3	37	c.1220	CCDS3864.1	5	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582574	0.86748	.	.	ENSG00000153395	ENST00000283415	T	0.69561	-0.41	4.48	4.48	0.54585	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.84948	2.725	0.80722	D	1	P	0.42649	0.786	P	0.52031	0.688	T	0.83322	-0.0017	10	0.59425	D	0.04	-37.0093	16.3061	0.82849	0.0:0.0:1.0:0.0	.	407	Q8NF37	PCAT1_HUMAN	V	407	ENSP00000283415:A407V	ENSP00000283415:A407V	A	-	2	0	LPCAT1	1523999	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.480000	0.81109	2.198000	0.70561	0.561000	0.74099	GCC	LPCAT1	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000153395		0.657	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	HGNC	protein_coding	OTTHUMT00000304032.1		0.00	101	0	G	NM_024830		1470999	-1			no_errors	ENST00000283415	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A
LRP1B	53353	genome.wustl.edu	37	2	141607790	141607790	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:141607790T>A	ENST00000389484.3	-	29	5791	c.4820A>T	c.(4819-4821)gAc>gTc	p.D1607V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1607					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAGTAACGTCATCAATATC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													167.0	159.0	162.0					2																	141607790		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4820A>T	2.37:g.141607790T>A	ENSP00000374135:p.Asp1607Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D1607V	ENST00000389484.3	37	c.4820	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661846	0.88251	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.91068	-2.78;1.57	5.54	5.54	0.83059	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.91942	0.7448	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.97;0.993	P;P	0.59357	0.856;0.77	D	0.92515	0.6020	10	0.56958	D	0.05	.	15.6848	0.77400	0.0:0.0:0.0:1.0	.	790;1607	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	V	1607;1545;752	ENSP00000374135:D1607V;ENSP00000413239:D752V	ENSP00000374135:D1607V	D	-	2	0	LRP1B	141324260	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	7.992000	0.88273	2.122000	0.65172	0.260000	0.18958	GAC	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	66	0	T	NM_018557		141607790	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	20.00	59	15	SNP	1.000	A
LRRC14	9684	genome.wustl.edu	37	8	145746623	145746623	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:145746623C>T	ENST00000292524.1	+	4	1389	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	LRRC14_ENST00000529022.1_Missense_Mutation_p.R415W	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	415										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGAGCTGCTGCGGGACTCAGT	0.642																																																	0													61.0	56.0	58.0					8																	145746623		2202	4299	6501	SO:0001583	missense	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1243C>T	8.37:g.145746623C>T	ENSP00000292524:p.Arg415Trp		A8K0A8|D3DWM8	Missense_Mutation	SNP	NULL	p.R415W	ENST00000292524.1	37	c.1243	CCDS6432.1	8	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714099	0.30413	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.50001	0.76;0.76	5.0	1.99	0.26369	.	0.447530	0.22276	N	0.062187	T	0.49779	0.1577	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	P	0.59948	0.866	T	0.33752	-0.9856	10	0.59425	D	0.04	.	8.7625	0.34683	0.2751:0.5744:0.1504:0.0	.	415	Q15048	LRC14_HUMAN	W	415	ENSP00000434768:R415W;ENSP00000292524:R415W	ENSP00000292524:R415W	R	+	1	2	LRRC14	145717431	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	0.757000	0.26433	0.663000	0.31027	0.655000	0.94253	CGG	LRRC14	-	NULL	ENSG00000160959		0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC14	HGNC	protein_coding	OTTHUMT00000382494.1		0.00	51	0	C	NM_014665		145746623	+1			no_errors	ENST00000292524	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.005	T
LRRC53	100144878	genome.wustl.edu	37	1	74940984	74940984	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:74940984G>T	ENST00000294635.4	-	4	1529	c.1415C>A	c.(1414-1416)aCa>aAa	p.T472K	FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000326637.3_Intron|LRRC53_ENST00000416014.2_Missense_Mutation_p.T472K|TNNI3K_ENST00000370891.2_Intron			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53	472						integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						CTCACCTTCTGTTCTTATTAT	0.388																																																	0																																										SO:0001583	missense	0					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.1415C>A	1.37:g.74940984G>T	ENSP00000294635:p.Thr472Lys			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T472K	ENST00000294635.4	37	c.1415		1	.	.	.	.	.	.	.	.	.	.	G	3.647	-0.072273	0.07228	.	.	ENSG00000162621	ENST00000416014;ENST00000294635	T;T	0.46819	0.98;0.86	5.46	1.55	0.23275	.	0.537283	0.16916	N	0.194282	T	0.24275	0.0588	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22068	-1.0227	7	0.87932	D	0	-0.0081	4.1819	0.10380	0.201:0.0:0.5233:0.2757	.	.	.	.	K	472	ENSP00000391861:T472K;ENSP00000294635:T472K	ENSP00000294635:T472K	T	-	2	0	LRRC53	74713572	0.050000	0.20438	0.015000	0.15790	0.057000	0.15508	0.550000	0.23345	0.137000	0.18759	0.655000	0.94253	ACA	LRRC53	-	NULL	ENSG00000162621		0.388	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC53	HGNC	protein_coding	OTTHUMT00000026515.2	-	0.00	40	0	G			74940984	-1	tier1	-	no_errors	ENST00000294635	ensembl	human	novel	74_37	missense	11.90	37	5	SNP	0.003	T
MAGEB3	4114	genome.wustl.edu	37	X	30254368	30254368	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:30254368C>T	ENST00000361644.2	+	5	1064	c.327C>T	c.(325-327)gaC>gaT	p.D109D		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	109										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CTCGCACAGACCCTCTAATCA	0.393																																																	0													56.0	48.0	51.0					X																	30254368		2202	4300	6502	SO:0001819	synonymous_variant	0			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.327C>T	X.37:g.30254368C>T			A0AVE4|B3KQ52|O75861	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D109	ENST00000361644.2	37	c.327	CCDS14220.1	X																																																																																			MAGEB3	-	NULL	ENSG00000198798		0.393	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	-	0.00	19	0	C	NM_002365		30254368	+1	tier1	-	no_errors	ENST00000361644	ensembl	human	known	74_37	silent	65.62	11	21	SNP	0.000	T
MAGOH	4116	genome.wustl.edu	37	1	53692677	53692677	+	3'UTR	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:53692677C>A	ENST00000371470.3	-	0	642				MAGOH_ENST00000371466.4_3'UTR|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ACAAAATTTTCTACTCCCACC	0.318																																					Colon(150;521 2416 7674 18129)												0													34.0	32.0	33.0					1																	53692677		2202	4297	6499	SO:0001624	3_prime_UTR_variant	0			AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.*40G>T	1.37:g.53692677C>A			B1ARP8|B2R5A2|O35169|P50606|Q5SW69	RNA	SNP	-	NULL	ENST00000371470.3	37	NULL	CCDS577.1	1																																																																																			MAGOH	-	-	ENSG00000162385		0.318	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOH	HGNC	protein_coding	OTTHUMT00000024730.1	-	0.00	119	0	C	NM_002370		53692677	-1	tier1	-	no_errors	ENST00000495868	ensembl	human	known	74_37	rna	40.91	65	45	SNP	0.001	A
MBD5	55777	genome.wustl.edu	37	2	149241395	149241395	+	Intron	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:149241395G>T	ENST00000407073.1	+	10	3842				MBD5_ENST00000404807.1_Missense_Mutation_p.A1079S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5						glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGTCAATGGGGCCTCAGGATT	0.537																																																	0																																										SO:0001627	intron_variant	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2845+390G>T	2.37:g.149241395G>T			A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.A1079S	ENST00000407073.1	37	c.3235	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175932	0.38413	.	.	ENSG00000204406	ENST00000404807	T	0.49139	0.79	5.85	4.98	0.66077	.	.	.	.	.	T	0.51109	0.1655	.	.	.	0.30265	N	0.792762	D	0.54207	0.965	P	0.49332	0.607	T	0.53906	-0.8372	7	.	.	.	-2.9666	13.3931	0.60834	0.0726:0.0:0.9274:0.0	.	1079	E9PHH0	.	S	1079	ENSP00000384672:A1079S	.	A	+	1	0	MBD5	148957865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.343000	0.52167	1.485000	0.48380	0.655000	0.94253	GCC	MBD5	-	NULL	ENSG00000204406		0.537	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	-	0.00	68	0	G			149241395	+1	tier1	-	no_errors	ENST00000404807	ensembl	human	novel	74_37	missense	25.58	32	11	SNP	1.000	T
MBNL1	4154	genome.wustl.edu	37	3	152132832	152132832	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:152132832A>C	ENST00000463374.1	+	2	788	c.277A>C	c.(277-279)Atg>Ctg	p.M93L	MBNL1_ENST00000545754.1_Missense_Mutation_p.M93L|MBNL1_ENST00000324210.5_Missense_Mutation_p.M93L|MBNL1_ENST00000492948.1_Missense_Mutation_p.M93L|MBNL1_ENST00000355460.2_Missense_Mutation_p.M93L|MBNL1_ENST00000493459.1_Missense_Mutation_p.M36L|MBNL1_ENST00000282486.6_Missense_Mutation_p.M93L|MBNL1_ENST00000485910.1_Missense_Mutation_p.M93L|MBNL1_ENST00000324196.5_Missense_Mutation_p.M93L|MBNL1_ENST00000498502.1_Missense_Mutation_p.M93L|MBNL1_ENST00000485509.1_Missense_Mutation_p.M93L|MBNL1_ENST00000357472.3_Missense_Mutation_p.M93L|MBNL1_ENST00000282488.7_Missense_Mutation_p.M93L	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	93					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCAGAAGAACATGGCCATGTT	0.463																																																	0													146.0	131.0	136.0					3																	152132832		2203	4300	6503	SO:0001583	missense	0			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.277A>C	3.37:g.152132832A>C	ENSP00000418108:p.Met93Leu		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	smart_Znf_CCCH	p.M93L	ENST00000463374.1	37	c.277	CCDS3165.1	3	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429700	0.83776	.	.	ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000459747;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.48642	1.525	0.53688	D	0.999972	B;B;B;B;B;B;B;B;B	0.31989	0.35;0.029;0.012;0.05;0.036;0.35;0.19;0.151;0.151	B;B;B;B;B;B;B;B;B	0.31946	0.065;0.046;0.029;0.037;0.022;0.094;0.028;0.096;0.138	T	0.09465	-1.0673	10	0.10111	T	0.7	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	93;93;93;93;93;93;36;93;93	C9JP00;E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;.;.;MBNL1_HUMAN;.;.;.;.	L	93;93;93;1;36;93;37;1;93;93;93;93;93;93;93;93;93	ENSP00000282486:M93L;ENSP00000282488:M93L;ENSP00000347637:M93L;ENSP00000419347:M36L;ENSP00000319429:M93L;ENSP00000417169:M37L;ENSP00000420327:M93L;ENSP00000319374:M93L;ENSP00000437491:M93L;ENSP00000350064:M93L;ENSP00000418427:M93L;ENSP00000418108:M93L;ENSP00000417630:M93L;ENSP00000420103:M93L;ENSP00000418876:M93L	ENSP00000282486:M93L	M	+	1	0	MBNL1	153615522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.220000	0.65267	2.317000	0.78254	0.460000	0.39030	ATG	MBNL1	-	NULL	ENSG00000152601		0.463	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	-	0.00	76	0	A	NM_021038		152132832	+1	tier1	-	no_errors	ENST00000282486	ensembl	human	known	74_37	missense	29.41	59	25	SNP	1.000	C
ANGPT2	285	genome.wustl.edu	37	8	6357421	6357421	+	3'UTR	SNP	G	G	A	rs575824036		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:6357421G>A	ENST00000325203.5	-	0	5166				ANGPT2_ENST00000415216.1_3'UTR|MCPH1_ENST00000344683.5_Missense_Mutation_p.E729K			O15123	ANGP2_HUMAN	angiopoietin 2						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGAGCCGTTCGAACTGTCTCA	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16477	0.0		0.0	False		,,,				2504	0.0																0													155.0	161.0	159.0					8																	6357421		1911	4125	6036	SO:0001624	3_prime_UTR_variant	0			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.*3201C>T	8.37:g.6357421G>A			A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.E729K	ENST00000325203.5	37	c.2185	CCDS5958.1	8	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192898	0.78902	.	.	ENSG00000147316	ENST00000344683	T	0.26067	1.76	5.78	5.78	0.91487	BRCT (2);	0.417148	0.28760	N	0.014222	T	0.63616	0.2526	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72043	-0.4409	10	0.87932	D	0	-26.3605	17.8645	0.88792	0.0:0.0:1.0:0.0	.	729	Q8NEM0	MCPH1_HUMAN	K	729	ENSP00000342924:E729K	ENSP00000342924:E729K	E	+	1	0	MCPH1	6344829	1.000000	0.71417	0.655000	0.29622	0.071000	0.16799	8.889000	0.92470	2.894000	0.99253	0.591000	0.81541	GAA	MCPH1	-	superfamily_BRCT_dom,pfscan_BRCT_dom	ENSG00000147316		0.413	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000206737.1	-	0.00	82	0	G	NM_001147		6357421	+1	tier1	-	no_errors	ENST00000344683	ensembl	human	known	74_37	missense	26.14	65	23	SNP	1.000	A
MEA1	4201	genome.wustl.edu	37	6	42980731	42980731	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:42980731C>T	ENST00000244711.3	-	3	493	c.339G>A	c.(337-339)gaG>gaA	p.E113E	KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	113					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CATCTTCACTCTCTAATGGTG	0.498																																																	0													171.0	160.0	164.0					6																	42980731		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.339G>A	6.37:g.42980731C>T			Q5TC36|Q9BV01	Silent	SNP	pfam_MEA1	p.E113	ENST00000244711.3	37	c.339	CCDS4879.1	6																																																																																			MEA1	-	pfam_MEA1	ENSG00000124733		0.498	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEA1	HGNC	protein_coding	OTTHUMT00000040574.2	-	0.00	55	0	C			42980731	-1	tier1	-	no_errors	ENST00000244711	ensembl	human	known	74_37	silent	14.29	42	7	SNP	1.000	T
MED16	10025	genome.wustl.edu	37	19	885801	885801	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:885801A>G	ENST00000589119.1	-	4	847	c.848T>C	c.(847-849)cTc>cCc	p.L283P	MED16_ENST00000269814.4_Missense_Mutation_p.L283P|MED16_ENST00000325464.1_Missense_Mutation_p.L283P|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.L283P|MED16_ENST00000312090.6_Missense_Mutation_p.L283P			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	283					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAACTTGAGGTGGGTGAT	0.622																																																	0													90.0	93.0	92.0					19																	885801		2203	4300	6503	SO:0001583	missense	0			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.848T>C	19.37:g.885801A>G	ENSP00000464810:p.Leu283Pro		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L283P	ENST00000589119.1	37	c.848	CCDS12047.1	19	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897729	0.72639	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000424039	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	3.49	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.76484	-0.2942	10	0.72032	D	0.01	-6.0289	11.3555	0.49613	1.0:0.0:0.0:0.0	.	283;283;283;283	E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	P	283	ENSP00000325612:L283P;ENSP00000308528:L283P;ENSP00000379153:L283P;ENSP00000269814:L283P	ENSP00000269814:L283P	L	-	2	0	MED16	836801	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.416000	0.90244	1.477000	0.48234	0.459000	0.35465	CTC	MED16	-	pfam_Mediator_Med16,superfamily_WD40_repeat_dom	ENSG00000175221		0.622	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	-	0.00	58	0	A	NM_005481		885801	-1	tier1	-	no_errors	ENST00000325464	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	G
MFSD9	84804	genome.wustl.edu	37	2	103335284	103335284	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:103335284C>T	ENST00000258436.5	-	6	1063	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	340					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GTAGGATTGGCCCCAGGGCAA	0.632																																																	0													54.0	50.0	51.0					2																	103335284		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1020G>A	2.37:g.103335284C>T			Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.G340	ENST00000258436.5	37	c.1020	CCDS2063.1	2																																																																																			MFSD9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000135953		0.632	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	HGNC	protein_coding	OTTHUMT00000253295.2		0.00	26	0	C	NM_032718		103335284	-1			no_errors	ENST00000258436	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.993	T
MIR622	693207	genome.wustl.edu	37	13	90883441	90883441	+	RNA	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:90883441A>C	ENST00000385123.1	+	0	6					NR_030754.1				microRNA 622																		AACCGAGAGAAGCTGGACAAG	0.542																																																	0													58.0	56.0	57.0					13																	90883441		1568	3582	5150			0					13q31.3	2011-09-12		2008-12-18	ENSG00000207858	ENSG00000207858		"""ncRNAs / Micro RNAs"""	32878	non-coding RNA	RNA, micro				MIRN622			Standard	NR_030754		Approved	hsa-mir-622	uc021rld.1				13.37:g.90883441A>C				RNA	SNP	-	NULL	ENST00000385123.1	37	NULL		13																																																																																			MIR622	-	-	ENSG00000207858		0.542	MIR622-201	KNOWN	basic	miRNA	MIR622	HGNC	miRNA		-	0.00	39	0	A	NR_030754		90883441	+1	tier1	-	no_errors	ENST00000385123	ensembl	human	known	74_37	rna	25.81	23	8	SNP	0.995	C
MPHOSPH9	10198	genome.wustl.edu	37	12	123648514	123648514	+	Missense_Mutation	SNP	C	C	T	rs369222808		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:123648514C>T	ENST00000606320.1	-	19	3097	c.2891G>A	c.(2890-2892)cGt>cAt	p.R964H	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R812H|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R934H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R812H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	964						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R812H(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACTTGATTTACGATTTGAAGG	0.418																																																	1	Substitution - Missense(1)	prostate(1)						C	HIS/ARG	0,4406		0,0,2203	179.0	163.0	168.0		2435	4.8	0.1	12		168	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPHOSPH9	NM_022782.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	812/1032	123648514	1,13005	2203	4300	6503	SO:0001583	missense	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2891G>A	12.37:g.123648514C>T	ENSP00000475489:p.Arg964His		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.R812H	ENST00000606320.1	37	c.2435		12	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594156	0.46214	0.0	1.16E-4	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.41758	0.99;1.01	5.72	4.83	0.62350	.	0.132417	0.48286	D	0.000199	T	0.38295	0.1035	M	0.70275	2.135	0.58432	D	0.999996	P	0.41710	0.76	B	0.29663	0.105	T	0.46541	-0.9184	10	0.87932	D	0	-14.6958	12.8836	0.58030	0.0:0.9237:0.0:0.0763	.	812	Q99550	MPP9_HUMAN	H	812	ENSP00000303597:R812H;ENSP00000445859:R812H	ENSP00000303597:R812H	R	-	2	0	MPHOSPH9	122214467	0.998000	0.40836	0.053000	0.19242	0.299000	0.27559	4.695000	0.61767	1.423000	0.47198	0.467000	0.42956	CGT	MPHOSPH9	-	NULL	ENSG00000051825		0.418	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	-	0.00	30	0	C			123648514	-1	tier1	-	no_errors	ENST00000392425	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.270	T
MRGPRX3	117195	genome.wustl.edu	37	11	18158959	18158959	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:18158959G>A	ENST00000396275.2	+	3	571	c.210G>A	c.(208-210)gcG>gcA	p.A70A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACCTGGTCGCGGCCGACTTCC	0.562																																																	0													99.0	94.0	96.0					11																	18158959		2200	4293	6493	SO:0001819	synonymous_variant	0				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.210G>A	11.37:g.18158959G>A			B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A70	ENST00000396275.2	37	c.210	CCDS7830.1	11																																																																																			MRGPRX3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179826		0.562	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	HGNC	protein_coding	OTTHUMT00000389767.1	-	0.00	35	0	G	NM_054031		18158959	+1	tier1	-	no_errors	ENST00000396275	ensembl	human	known	74_37	silent	65.85	14	27	SNP	0.022	A
MROH2B	133558	genome.wustl.edu	37	5	41042283	41042283	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:41042283T>G	ENST00000399564.4	-	19	2314	c.1864A>C	c.(1864-1866)Acc>Ccc	p.T622P	MROH2B_ENST00000506092.2_Missense_Mutation_p.T177P	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	622																	CATGCTAAGGTGGTTCCCAAG	0.438																																																	0													59.0	52.0	54.0					5																	41042283		1829	4089	5918	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1864A>C	5.37:g.41042283T>G	ENSP00000382476:p.Thr622Pro		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T622P	ENST00000399564.4	37	c.1864	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103924	0.76983	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68624	2.82;-0.34	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.52532	D	0.000064	T	0.79793	0.4507	M	0.72118	2.19	0.46044	D	0.998832	D	0.76494	0.999	D	0.85130	0.997	T	0.80498	-0.1356	10	0.49607	T	0.09	.	12.5221	0.56065	0.0:0.0:0.0:1.0	.	622	Q7Z745	HTRB2_HUMAN	P	177;327;622	ENSP00000441504:T177P;ENSP00000382476:T622P	ENSP00000296803:T327P	T	-	1	0	HEATR7B2	41078040	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	2.448000	0.44926	2.216000	0.71823	0.377000	0.23210	ACC	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0.00	71	0	T	NM_173489		41042283	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	61.11	49	77	SNP	1.000	G
MST1R	4486	genome.wustl.edu	37	3	49935600	49935600	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:49935600G>A	ENST00000296474.3	-	5	1791	c.1764C>T	c.(1762-1764)acC>acT	p.T588T	MST1R_ENST00000344206.4_Silent_p.T588T|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	588	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGCCACACAGGGTCAGCCTTG	0.602																																																	0													91.0	87.0	88.0					3																	49935600		2203	4300	6503	SO:0001819	synonymous_variant	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1764C>T	3.37:g.49935600G>A			B5A944|B5A945|B5A946|B5A947	Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.T588	ENST00000296474.3	37	c.1764	CCDS2807.1	3																																																																																			MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000164078		0.602	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1		0.00	14	0	G			49935600	-1			no_errors	ENST00000296474	ensembl	human	known	74_37	silent	50.00	3	3	SNP	0.330	A
MSTO1	55154	genome.wustl.edu	37	1	155584306	155584306	+	3'UTR	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:155584306G>A	ENST00000245564.2	+	0	1979				MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_3'UTR|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator						mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CATCTGTAAAGTCTTCATAAA	0.468																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.*242G>A	1.37:g.155584306G>A			Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	RNA	SNP	-	NULL	ENST00000245564.2	37	NULL	CCDS1114.1	1																																																																																			MSTO1	-	-	ENSG00000125459		0.468	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	-	0.00	23	0	G	NM_018116		155584306	+1	tier1	-	no_errors	ENST00000483734	ensembl	human	known	74_37	rna	25.00	15	5	SNP	0.075	A
MTMR7	9108	genome.wustl.edu	37	8	17159669	17159669	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:17159669C>T	ENST00000180173.5	-	13	1648	c.1614G>A	c.(1612-1614)ctG>ctA	p.L538L	MTMR7_ENST00000521857.1_Silent_p.L538L|MTMR7_ENST00000398099.3_Silent_p.L129L	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	538					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTACTTCTTCCAGGGCCTCTA	0.423																																																	0													164.0	150.0	155.0					8																	17159669		2203	4300	6503	SO:0001819	synonymous_variant	0			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1614G>A	8.37:g.17159669C>T			A1L4K9|B4DG87|Q68DX4	Silent	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.L538	ENST00000180173.5	37	c.1614	CCDS34851.1	8																																																																																			MTMR7	-	NULL	ENSG00000003987		0.423	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	HGNC	protein_coding	OTTHUMT00000375311.1	-	0.00	36	0	C	NM_004686		17159669	-1	tier1	-	no_errors	ENST00000180173	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.006	T
MUC16	94025	genome.wustl.edu	37	19	9026312	9026312	+	Missense_Mutation	SNP	G	G	T	rs200190822	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:9026312G>T	ENST00000397910.4	-	14	36877	c.36674C>A	c.(36673-36675)gCt>gAt	p.A12225D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12227					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						GAGAGGGCCAGCAGCTATAGT	0.443																																																	0													179.0	161.0	167.0					19																	9026312		2021	4190	6211	SO:0001583	missense	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.36674C>A	19.37:g.9026312G>T	ENSP00000381008:p.Ala12225Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A12225D	ENST00000397910.4	37	c.36674	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.768	0.142895	0.09083	.	.	ENSG00000181143	ENST00000397910	T	0.34072	1.38	1.92	0.227	0.15359	.	.	.	.	.	T	0.35451	0.0932	M	0.70595	2.14	.	.	.	D	0.58268	0.982	P	0.44623	0.455	T	0.45352	-0.9267	8	0.87932	D	0	.	4.3067	0.10951	0.2988:0.0:0.7012:0.0	.	12225	B5ME49	.	D	12225	ENSP00000381008:A12225D	ENSP00000381008:A12225D	A	-	2	0	MUC16	8887312	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.747000	0.04823	0.103000	0.17682	0.195000	0.17529	GCT	MUC16	-	NULL	ENSG00000181143		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	99	0	G	NM_024690		9026312	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T
MUC17	140453	genome.wustl.edu	37	7	100686089	100686089	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:100686089C>A	ENST00000306151.4	+	3	11456	c.11392C>A	c.(11392-11394)Ctt>Att	p.L3798I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3798	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTACAACTCTTGAAGGCAC	0.468																																																	0													111.0	101.0	105.0					7																	100686089		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11392C>A	7.37:g.100686089C>A	ENSP00000302716:p.Leu3798Ile		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.L3798I	ENST00000306151.4	37	c.11392	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	7.068	0.567711	0.13560	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	1.96	-3.91	0.04168	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	P	0.52061	0.95	P	0.52909	0.713	T	0.20773	-1.0265	9	0.36615	T	0.2	.	0.5579	0.00674	0.2907:0.2676:0.2718:0.1699	.	3798	Q685J3	MUC17_HUMAN	I	3798	ENSP00000302716:L3798I	ENSP00000302716:L3798I	L	+	1	0	MUC17	100472809	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-3.130000	0.00591	-1.863000	0.01150	0.187000	0.17357	CTT	MUC17	-	NULL	ENSG00000169876		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	38	0	C	NM_001040105		100686089	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	6.67	70	5	SNP	0.000	A
MUC19	283463	genome.wustl.edu	37	12	40922066	40922066	+	3'UTR	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:40922066T>G	ENST00000474954.1	+	0	2929				MUC19_ENST00000454784.4_Intron			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						CAGCCACAACTTCTTCTGGAG	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000474954.1:c.*2926T>G	12.37:g.40922066T>G			Q8NA85	RNA	SNP	-	NULL	ENST00000474954.1	37	NULL		12																																																																																			MUC19	-	-	ENSG00000205592		0.433	MUC19-006	KNOWN	basic	processed_transcript	MUC19	HGNC	protein_coding	OTTHUMT00000134360.1	-	0.00	69	0	T	XM_003403524		40922066	+1	tier1	-	no_errors	ENST00000474954	ensembl	human	known	74_37	rna	32.31	44	21	SNP	0.019	G
MUC2	4583	genome.wustl.edu	37	11	1090371	1090371	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:1090371C>G	ENST00000441003.2	+	27	3694	c.3667C>G	c.(3667-3669)Ccg>Gcg	p.P1223A	MUC2_ENST00000361558.6_5'Flank|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1223					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.P1223T(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGTCTGCAGGCCGGAGGAAGG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											60.0	65.0	63.0					11																	1090371		2190	4277	6467	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3667C>G	11.37:g.1090371C>G	ENSP00000415183:p.Pro1223Ala		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1223A	ENST00000441003.2	37	c.3667		11	.	.	.	.	.	.	.	.	.	.	c	1.919	-0.448768	0.04572	.	.	ENSG00000198788	ENST00000441003	T	0.12255	2.7	2.43	-2.26	0.06867	.	.	.	.	.	T	0.07369	0.0186	L	0.34521	1.04	0.09310	N	1	B	0.26041	0.14	B	0.28991	0.097	T	0.43310	-0.9399	9	0.07175	T	0.84	.	3.326	0.07067	0.0:0.3408:0.2161:0.4431	.	1223	E7EUV1	.	A	1223	ENSP00000415183:P1223A	ENSP00000415183:P1223A	P	+	1	0	MUC2	1080371	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.728000	0.04925	-0.534000	0.06315	0.441000	0.28932	CCG	MUC2	-	NULL	ENSG00000198788		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2		0.00	30	0	C	NM_002457		1090371	+1			no_errors	ENST00000441003	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.000	G
MYBPC3	4607	genome.wustl.edu	37	11	47364637	47364637	+	Missense_Mutation	SNP	G	G	A	rs370412052	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:47364637G>A	ENST00000545968.1	-	15	1340	c.1286C>T	c.(1285-1287)gCg>gTg	p.A429V	MYBPC3_ENST00000256993.4_Missense_Mutation_p.A428V|MYBPC3_ENST00000399249.2_Missense_Mutation_p.A429V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	429	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A429V(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGCGTCGTCCGCCAATGAGCA	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16846	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	breast(1)						G	VAL/ALA	5,4253		0,5,2124	36.0	42.0	40.0		1286	4.7	1.0	11		40	0,8500		0,0,4250	no	missense	MYBPC3	NM_000256.3	64	0,5,6374	AA,AG,GG		0.0,0.1174,0.0392	possibly-damaging	429/1275	47364637	5,12753	2129	4250	6379	SO:0001583	missense	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1286C>T	11.37:g.47364637G>A	ENSP00000442795:p.Ala429Val		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A429V	ENST00000545968.1	37	c.1286	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714969	0.68844	0.001174	0.0	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.43688	0.94;0.94;0.94	4.72	4.72	0.59763	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54240	0.1846	M	0.81239	2.535	0.53688	D	0.999979	P	0.50819	0.939	P	0.46419	0.516	T	0.65162	-0.6235	9	0.72032	D	0.01	.	17.4682	0.87639	0.0:0.0:1.0:0.0	.	428	Q14896	MYPC3_HUMAN	V	429;429;428	ENSP00000442795:A429V;ENSP00000382193:A429V;ENSP00000256993:A428V	ENSP00000256993:A428V	A	-	2	0	MYBPC3	47321213	1.000000	0.71417	0.957000	0.39632	0.154000	0.21943	5.047000	0.64232	2.449000	0.82847	0.462000	0.41574	GCG	MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134571		0.622	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0.00	71	0	G			47364637	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	55.93	26	33	SNP	1.000	A
MYO18B	84700	genome.wustl.edu	37	22	26243569	26243569	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr22:26243569T>C	ENST00000407587.2	+	20	3897	c.3728T>C	c.(3727-3729)gTc>gCc	p.V1243A	MYO18B_ENST00000536101.1_Missense_Mutation_p.V1242A|MYO18B_ENST00000335473.7_Missense_Mutation_p.V1242A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1242	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCACTGAGGGTCCAGCTTGCT	0.592																																																	0													24.0	28.0	27.0					22																	26243569		2081	4204	6285	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3728T>C	22.37:g.26243569T>C	ENSP00000386096:p.Val1243Ala		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1242A	ENST00000407587.2	37	c.3725		22	.	.	.	.	.	.	.	.	.	.	T	1.454	-0.564304	0.03939	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.70749	-0.51;-0.51;-0.51	4.41	3.38	0.38709	Myosin head, motor domain (2);	0.503855	0.20319	N	0.094677	T	0.47893	0.1470	N	0.25890	0.77	0.30849	N	0.734775	B;B;B;B	0.31026	0.003;0.304;0.138;0.259	B;B;B;B	0.26310	0.006;0.068;0.04;0.041	T	0.47898	-0.9081	10	0.02654	T	1	.	7.8856	0.29648	0.0:0.0993:0.0:0.9007	.	755;1242;1243;1242	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	A	1242;1242;1243	ENSP00000441229:V1242A;ENSP00000334563:V1242A;ENSP00000386096:V1243A	ENSP00000334563:V1242A	V	+	2	0	MYO18B	24573569	0.224000	0.23674	0.987000	0.45799	0.203000	0.24098	0.551000	0.23361	0.749000	0.32854	0.454000	0.30748	GTC	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0.00	45	0	T	NM_032608		26243569	+1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.996	C
NCEH1	57552	genome.wustl.edu	37	3	172428853	172428853	+	5'UTR	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:172428853C>A	ENST00000475381.1	-	0	155				NCEH1_ENST00000538775.1_Silent_p.G6G|NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000273512.3_Silent_p.G6G			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1						lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CAACTTTCTGCCCGCGGCAGC	0.632											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													20.0	23.0	22.0					3																	172428853		2201	4292	6493	SO:0001623	5_prime_UTR_variant	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.-79G>T	3.37:g.172428853C>A		1900	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.G6	ENST00000475381.1	37	c.18		3																																																																																			NCEH1	-	NULL	ENSG00000144959		0.632	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3	-	0.00	41	0	C	NM_020792		172428853	-1	tier1	-	no_errors	ENST00000538775	ensembl	human	known	74_37	silent	28.05	59	23	SNP	0.864	A
NDST3	9348	genome.wustl.edu	37	4	119026181	119026181	+	Silent	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:119026181T>C	ENST00000296499.5	+	3	1393	c.990T>C	c.(988-990)ctT>ctC	p.L330L	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	330	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGGCCCTGCTTGATACTCAGA	0.323																																																	0													115.0	125.0	121.0					4																	119026181		2203	4300	6503	SO:0001819	synonymous_variant	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.990T>C	4.37:g.119026181T>C			B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L330	ENST00000296499.5	37	c.990	CCDS3708.1	4																																																																																			NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.323	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0.00	89	0	T	NM_004784		119026181	+1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	C
NIN	51199	genome.wustl.edu	37	14	51190336	51190336	+	IGR	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr14:51190336C>A	ENST00000382041.3	-	0	6496				NIN_ENST00000389868.3_3'UTR|RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000530997.2_Missense_Mutation_p.A2083S|NIN_ENST00000245441.5_Missense_Mutation_p.A2083S	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.A2083T(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AACAACTGGGCATTTTCAACA	0.428			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	1	Substitution - Missense(1)	lung(1)											140.0	132.0	135.0					14																	51190336		1900	4114	6014	SO:0001628	intergenic_variant	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569		14.37:g.51190336C>A			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.A2083S	ENST00000382041.3	37	c.6247	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.182045|4.182045	0.78677|0.78677	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149|ENST00000530997	T|.	0.45276|.	0.9|.	5.92|5.92	4.86|4.86	0.63082|0.63082	.|.	0.258488|.	0.38164|.	N|.	0.001787|.	T|T	0.66177|0.66177	0.2763|0.2763	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D|.	0.55800|.	0.973|.	P|.	0.53593|.	0.73|.	T|T	0.64266|0.64266	-0.6448|-0.6448	10|5	0.30078|.	T|.	0.28|.	-8.9191|-8.9191	11.4189|11.4189	0.49969|0.49969	0.0:0.8491:0.0:0.1509|0.0:0.8491:0.0:0.1509	.|.	2083|.	Q8N4C6-7|.	.|.	S|F	2083;2066|1573	ENSP00000245441:A2083S|.	ENSP00000245441:A2083S|.	A|C	-|-	1|2	0|0	NIN|NIN	50260086|50260086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.261000|1.261000	0.32980|0.32980	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GCC|TGC	NIN	-	NULL	ENSG00000100503		0.428	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0.00	59	0	C	NM_182946		51190336	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
NKRF	55922	genome.wustl.edu	37	X	118724446	118724446	+	Silent	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:118724446T>C	ENST00000371527.1	-	2	1594	c.942A>G	c.(940-942)ccA>ccG	p.P314P	NKRF_ENST00000304449.5_Silent_p.P314P|NKRF_ENST00000542113.1_Silent_p.P329P|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	314					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CCAGGTCTTCTGGTGGCTTCA	0.473																																																	0													77.0	79.0	78.0					X																	118724446		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.942A>G	X.37:g.118724446T>C			G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd	p.P329	ENST00000371527.1	37	c.987	CCDS35375.1	X																																																																																			NKRF	-	NULL	ENSG00000186416		0.473	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1	-	0.00	27	0	T	NM_017544		118724446	-1	tier1	-	no_errors	ENST00000542113	ensembl	human	known	74_37	silent	14.58	41	7	SNP	0.824	C
NOA1	84273	genome.wustl.edu	37	4	57834638	57834638	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:57834638G>T	ENST00000264230.4	-	4	2796	c.1559C>A	c.(1558-1560)cCa>cAa	p.P520Q		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	520					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GGACTGTGTTGGCAAAACAAT	0.323																																																	0													63.0	67.0	65.0					4																	57834638		2203	4300	6503	SO:0001583	missense	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1559C>A	4.37:g.57834638G>T	ENSP00000264230:p.Pro520Gln		Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.P520Q	ENST00000264230.4	37	c.1559	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308816	0.81247	.	.	ENSG00000084092	ENST00000264230	T	0.46819	0.86	5.79	5.79	0.91817	.	0.233545	0.42964	D	0.000623	T	0.77877	0.4196	M	0.93808	3.46	0.58432	D	0.999998	D	0.71674	0.998	D	0.71656	0.974	T	0.83220	-0.0069	10	0.87932	D	0	.	19.6339	0.95722	0.0:0.0:1.0:0.0	.	520	Q8NC60	CD014_HUMAN	Q	520	ENSP00000264230:P520Q	ENSP00000264230:P520Q	P	-	2	0	C4orf14	57529395	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.074000	0.76791	2.727000	0.93392	0.563000	0.77884	CCA	NOA1	-	NULL	ENSG00000084092		0.323	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2		0.00	82	0	G	NM_032313		57834638	-1			no_errors	ENST00000264230	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
NPFFR2	10886	genome.wustl.edu	37	4	72994561	72994561	+	Missense_Mutation	SNP	T	T	G	rs144971184		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:72994561T>G	ENST00000308744.6	+	2	657	c.559T>G	c.(559-561)Tta>Gta	p.L187V	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.L88V|NPFFR2_ENST00000358749.3_Missense_Mutation_p.L85V	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	187					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTCTTCATCTTAAACCTGGC	0.373																																																	0													166.0	157.0	160.0					4																	72994561		2203	4300	6503	SO:0001583	missense	0			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.559T>G	4.37:g.72994561T>G	ENSP00000307822:p.Leu187Val		Q96RV1|Q9NR49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L187V	ENST00000308744.6	37	c.559	CCDS3551.1	4	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590837	0.46214	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.71698	-0.59;-0.59;-0.59	5.9	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.168986	0.28365	N	0.015615	T	0.68044	0.2958	L	0.47716	1.5	0.53688	D	0.999978	P;P	0.45634	0.83;0.863	P;P	0.54060	0.604;0.741	T	0.61540	-0.7042	10	0.11182	T	0.66	.	8.2352	0.31622	0.0:0.2895:0.0:0.7105	.	88;187	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	V	187;88;85	ENSP00000307822:L187V;ENSP00000379321:L88V;ENSP00000351599:L85V	ENSP00000307822:L187V	L	+	1	2	NPFFR2	73213425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.515000	0.35845	0.505000	0.28104	0.528000	0.53228	TTA	NPFFR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000056291		0.373	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	-	0.00	49	0	T	NM_004885		72994561	+1	tier1	-	no_errors	ENST00000308744	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	G
NPPA	4878	genome.wustl.edu	37	1	11907582	11907582	+	Intron	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:11907582C>A	ENST00000376480.3	-	1	222				NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Intron	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A						cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGAAAGCCCCCTGGCCCCA	0.502																																																	0													96.0	103.0	101.0					1																	11907582		2203	4300	6503	SO:0001627	intron_variant	0			BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.123+36G>T	1.37:g.11907582C>A			Q13766|Q5JZE1	RNA	SNP	-	NULL	ENST00000376480.3	37	NULL	CCDS139.1	1																																																																																			NPPA-AS1	-	-	ENSG00000242349		0.502	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPPA-AS1	HGNC	protein_coding	OTTHUMT00000006852.1	-	0.00	42	0	C	NM_006172		11907582	+1	tier1	-	no_errors	ENST00000446542	ensembl	human	known	74_37	rna	9.30	39	4	SNP	0.000	A
NPR1	4881	genome.wustl.edu	37	1	153665880	153665880	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:153665880C>T	ENST00000368680.3	+	22	3648	c.3176C>T	c.(3175-3177)aCc>aTc	p.T1059I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	1059					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGGAGTAGCACCCGAGGCTGA	0.627																																					Pancreas(141;1349 1870 15144 15830 40702)												0													67.0	66.0	66.0					1																	153665880		2203	4300	6503	SO:0001583	missense	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.3176C>T	1.37:g.153665880C>T	ENSP00000357669:p.Thr1059Ile		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.T1059I	ENST00000368680.3	37	c.3176	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610231	0.46527	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.83163	-1.69	4.59	4.59	0.56863	.	0.562382	0.15381	N	0.265302	T	0.65801	0.2726	L	0.43152	1.355	0.80722	D	1	B;P	0.40144	0.056;0.704	B;B	0.28916	0.035;0.096	T	0.71471	-0.4583	10	0.45353	T	0.12	.	14.9597	0.71147	0.0:1.0:0.0:0.0	.	538;1059	B7Z4Y7;P16066	.;ANPRA_HUMAN	I	1059;538	ENSP00000357669:T1059I	ENSP00000357669:T1059I	T	+	2	0	NPR1	151932504	0.194000	0.23325	1.000000	0.80357	0.945000	0.59286	0.594000	0.24014	2.368000	0.80403	0.462000	0.41574	ACC	NPR1	-	NULL	ENSG00000169418		0.627	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	-	0.00	24	0	C	NM_000906		153665880	+1	tier1	-	no_errors	ENST00000368680	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.994	T
OLFM1	10439	genome.wustl.edu	37	9	137979262	137979262	+	5'Flank	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:137979262C>A	ENST00000371793.3	+	0	0				OLFM1_ENST00000277415.11_Intron|OLFM1_ENST00000392991.4_5'Flank|OLFM1_ENST00000371796.3_Missense_Mutation_p.Q15K|OLFM1_ENST00000252854.4_Intron	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1						negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GCCGTGCCCCCAGCTGGAGTC	0.692																																																	0																																										SO:0001631	upstream_gene_variant	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897		9.37:g.137979262C>A	Exception_encountered		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.Q15K	ENST00000371793.3	37	c.43		9	.	.	.	.	.	.	.	.	.	.	C	9.801	1.180491	0.21787	.	.	ENSG00000130558	ENST00000371796	D	0.87029	-2.2	0.984	0.984	0.19773	.	.	.	.	.	T	0.67429	0.2892	.	.	.	0.22954	N	0.998516	.	.	.	.	.	.	T	0.54748	-0.8247	6	0.05833	T	0.94	.	7.7972	0.29154	0.0:1.0:0.0:0.0	.	.	.	.	K	15	ENSP00000360861:Q15K	ENSP00000360861:Q15K	Q	+	1	0	OLFM1	137119083	0.000000	0.05858	0.002000	0.10522	0.236000	0.25371	-0.939000	0.03933	0.821000	0.34540	0.313000	0.20887	CAG	OLFM1	-	NULL	ENSG00000130558		0.692	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0.00	56	0	C	NM_014279		137979262	+1	tier1	-	no_errors	ENST00000371796	ensembl	human	putative	74_37	missense	23.26	33	10	SNP	0.004	A
OLFM1	10439	genome.wustl.edu	37	9	138011965	138011965	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:138011965G>A	ENST00000371793.3	+	6	1650	c.1399G>A	c.(1399-1401)Ggc>Agc	p.G467S	OLFM1_ENST00000371796.3_Missense_Mutation_p.G440S|OLFM1_ENST00000252854.4_Missense_Mutation_p.G449S	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	467	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTGGAACAACGGCCACCAGAT	0.562																																																	0													122.0	106.0	111.0					9																	138011965		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1399G>A	9.37:g.138011965G>A	ENSP00000360858:p.Gly467Ser		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.G467S	ENST00000371793.3	37	c.1399		9	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964838	0.92791	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.90385	-2.66;-2.66;-2.66	4.94	4.94	0.65067	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.95793	0.8631	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96260	0.9190	10	0.62326	D	0.03	.	18.166	0.89727	0.0:0.0:1.0:0.0	.	467;449	Q99784;Q6IMJ8	NOE1_HUMAN;.	S	449;440;467	ENSP00000252854:G449S;ENSP00000360861:G440S;ENSP00000360858:G467S	ENSP00000252854:G449S	G	+	1	0	OLFM1	137151786	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.535000	0.98064	2.296000	0.77279	0.561000	0.74099	GGC	OLFM1	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	ENSG00000130558		0.562	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0.00	46	0	G	NM_014279		138011965	+1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	A
OR10G8	219869	genome.wustl.edu	37	11	123900543	123900543	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:123900543T>C	ENST00000431524.1	+	1	247	c.214T>C	c.(214-216)Tcc>Ccc	p.S72P		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CATGTGGTTCTCCACTGTCAC	0.517																																																	0													249.0	201.0	217.0					11																	123900543		2201	4299	6500	SO:0001583	missense	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.214T>C	11.37:g.123900543T>C	ENSP00000389072:p.Ser72Pro		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S72P	ENST00000431524.1	37	c.214	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073490	0.36566	.	.	ENSG00000234560	ENST00000431524	T	0.00832	5.64	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000174	T	0.04003	0.0112	M	0.81802	2.56	0.28459	N	0.915964	D	0.76494	0.999	D	0.87578	0.998	T	0.09015	-1.0694	10	0.46703	T	0.11	.	5.7409	0.18094	0.3911:0.0:0.0:0.6089	.	72	Q8NGN5	O10G8_HUMAN	P	72	ENSP00000389072:S72P	ENSP00000389072:S72P	S	+	1	0	OR10G8	123405753	0.000000	0.05858	1.000000	0.80357	0.988000	0.76386	-0.219000	0.09228	1.337000	0.45525	0.477000	0.44152	TCC	OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000234560		0.517	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0.00	131	0	T	NM_001004464		123900543	+1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	36.96	58	34	SNP	0.987	C
OR14K1	343170	genome.wustl.edu	37	1	247902410	247902410	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:247902410A>C	ENST00000283225.2	+	1	494	c.494A>C	c.(493-495)aAt>aCt	p.N165T	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	165						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)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TTCTCTCTGAATTTTTATGGC	0.488																																																	0													168.0	167.0	168.0					1																	247902410		2013	4193	6206	SO:0001583	missense	0			BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.494A>C	1.37:g.247902410A>C	ENSP00000283225:p.Asn165Thr		A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N165T	ENST00000283225.2	37	c.494		1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286070	0.40394	.	.	ENSG00000153230	ENST00000283225	T	0.00042	8.84	3.81	-7.62	0.01294	.	3.003520	0.02192	N	0.061443	T	0.00210	0.0006	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23940	-1.0174	7	0.49607	T	0.09	.	16.9236	0.86169	0.2359:0.7641:0.0:0.0	.	.	.	.	T	165	ENSP00000283225:N165T	ENSP00000283225:N165T	N	+	2	0	OR14K1	245969033	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	-0.005000	0.12855	-2.091000	0.00858	0.443000	0.29094	AAT	OR14K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000153230		0.488	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	OR14K1	HGNC	protein_coding	OTTHUMT00000096868.1	-	0.00	43	0	A	NM_001004732		247902410	+1	tier1	-	no_errors	ENST00000283225	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.000	C
OR1L3	26735	genome.wustl.edu	37	9	125437661	125437661	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:125437661T>G	ENST00000304820.2	+	1	347	c.253T>G	c.(253-255)Ttc>Gtc	p.F85V		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GCTCGTGAACTTCTTATCAGA	0.393																																																	0													164.0	161.0	162.0					9																	125437661		2203	4300	6503	SO:0001583	missense	0				CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.253T>G	9.37:g.125437661T>G	ENSP00000302863:p.Phe85Val		B2RNF4|Q6IFN1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F85V	ENST00000304820.2	37	c.253	CCDS35128.1	9	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645131	0.47258	.	.	ENSG00000171481	ENST00000304820	T	0.00940	5.52	4.54	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.354591	0.20254	U	0.096005	T	0.02193	0.0068	M	0.78801	2.425	0.09310	N	1	D	0.53462	0.96	P	0.50136	0.632	T	0.40850	-0.9541	10	0.44086	T	0.13	-16.511	5.0117	0.14315	0.1632:0.0911:0.0:0.7457	.	85	Q8NH93	OR1L3_HUMAN	V	85	ENSP00000302863:F85V	ENSP00000302863:F85V	F	+	1	0	OR1L3	124477482	0.006000	0.16342	0.934000	0.37439	0.990000	0.78478	0.157000	0.16402	2.063000	0.61619	0.524000	0.50904	TTC	OR1L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171481		0.393	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L3	HGNC	protein_coding	OTTHUMT00000053950.1	-	0.00	43	0	T			125437661	+1	tier1	-	no_errors	ENST00000304820	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.065	G
OR4F15	390649	genome.wustl.edu	37	15	102359250	102359250	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:102359250C>G	ENST00000332238.4	+	1	885	c.861C>G	c.(859-861)taC>taG	p.Y287*		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAGTTATCTACACATTCAGGA	0.388																																																	0													89.0	77.0	81.0					15																	102359250		2203	4300	6503	SO:0001587	stop_gained	0			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.861C>G	15.37:g.102359250C>G	ENSP00000333184:p.Tyr287*		B2RNQ5|Q6IF57|Q96R70	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y287*	ENST00000332238.4	37	c.861	CCDS32342.1	15	.	.	.	.	.	.	.	.	.	.	.	15.97	2.989328	0.53934	.	.	ENSG00000182854	ENST00000332238	.	.	.	5.46	-2.17	0.07059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.941	0.70994	0.0:0.7779:0.0:0.2221	.	.	.	.	X	287	.	.	Y	+	3	2	OR4F15	100176773	0.000000	0.05858	0.961000	0.40146	0.674000	0.39518	-2.301000	0.01137	-0.623000	0.05618	-0.312000	0.09012	TAC	OR4F15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000182854		0.388	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F15	HGNC	protein_coding	OTTHUMT00000417594.1	-	0.00	69	0	C	NM_001001674		102359250	+1	tier1	-	no_errors	ENST00000332238	ensembl	human	known	74_37	nonsense	18.18	54	12	SNP	0.982	G
OR52B2	255725	genome.wustl.edu	37	11	6191058	6191058	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:6191058G>A	ENST00000530810.1	-	1	580	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R167R(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGGCAGCCGCTTCAGCAAG	0.488																																					NSCLC(5;186 261 1778 7098 14207)												2	Substitution - coding silent(2)	lung(2)											61.0	61.0	61.0					11																	6191058		2098	4221	6319	SO:0001583	missense	0			AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.499C>T	11.37:g.6191058G>A	ENSP00000432011:p.Arg167Trp		Q8NGM7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R167W	ENST00000530810.1	37	c.499	CCDS53598.1	11	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370405	0.61624	.	.	ENSG00000255307	ENST00000530810	T	0.00188	8.59	5.43	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.83312	2.635	0.29058	N	0.884093	D	0.89917	1.0	D	0.97110	1.0	T	0.41520	-0.9504	9	0.52906	T	0.07	.	13.3331	0.60500	0.0:0.0:0.6267:0.3733	.	167	Q96RD2	O52B2_HUMAN	W	167	ENSP00000432011:R167W	ENSP00000432011:R167W	R	-	1	2	OR52B2	6147634	0.000000	0.05858	0.999000	0.59377	0.991000	0.79684	0.117000	0.15583	1.486000	0.48398	0.551000	0.68910	CGG	OR52B2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255307		0.488	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B2	HGNC	protein_coding	OTTHUMT00000385977.1		0.00	34	0	G	NM_001004052		6191058	-1			no_errors	ENST00000530810	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.998	A
OR5H15	403274	genome.wustl.edu	37	3	97887982	97887982	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:97887982T>G	ENST00000356526.2	+	1	439	c.439T>G	c.(439-441)Ttg>Gtg	p.L147V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCTATTAATCTTGTCATATAT	0.373																																																	0													77.0	75.0	76.0					3																	97887982		2203	4297	6500	SO:0001583	missense	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.439T>G	3.37:g.97887982T>G	ENSP00000373195:p.Leu147Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L147V	ENST00000356526.2	37	c.439	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	0.182	-1.061694	0.01950	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.37584	1.19	2.48	-0.63	0.11530	GPCR, rhodopsin-like superfamily (1);	0.622791	0.13359	N	0.393809	T	0.18964	0.0455	N	0.05031	-0.125	0.09310	N	1	P	0.46142	0.873	P	0.48921	0.595	T	0.11012	-1.0605	10	0.27082	T	0.32	.	3.4393	0.07457	0.21:0.0:0.3985:0.3915	.	147	A6NDH6	O5H15_HUMAN	V	147	ENSP00000373195:L147V	ENSP00000373195:L147V	L	+	1	2	OR5H15	99370672	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.112000	0.10791	0.173000	0.19788	0.155000	0.16302	TTG	OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000233412		0.373	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	-	0.00	61	0	T			97887982	+1	tier1	-	no_errors	ENST00000356526	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.000	G
OTOGL	283310	genome.wustl.edu	37	12	80729902	80729902	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:80729902C>T	ENST00000547103.1	+	38	4525	c.4519C>T	c.(4519-4521)Cct>Tct	p.P1507S	OTOGL_ENST00000458043.2_Missense_Mutation_p.P1519S			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1507					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TATCTGCTGCCCTGAGTGGGA	0.413																																																	0													101.0	94.0	96.0					12																	80729902		1918	4119	6037	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4519C>T	12.37:g.80729902C>T	ENSP00000447211:p.Pro1507Ser		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.P1519S	ENST00000547103.1	37	c.4555		12	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110424	0.77210	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.16324	2.35;2.36	5.03	5.03	0.67393	.	.	.	.	.	T	0.27454	0.0674	L	0.52905	1.665	0.42638	D	0.9934	.	.	.	.	.	.	T	0.02326	-1.1176	7	0.10377	T	0.69	.	18.7143	0.91670	0.0:1.0:0.0:0.0	.	.	.	.	S	1507;1519	ENSP00000447211:P1507S;ENSP00000400895:P1519S	ENSP00000400895:P1519S	P	+	1	0	OTOGL	79254033	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.805000	0.75191	2.486000	0.83907	0.555000	0.69702	CCT	OTOGL	-	smart_VWF_type-D	ENSG00000165899		0.413	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	-	0.00	56	0	C	NM_173591		80729902	+1	tier1	-	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	10.81	66	8	SNP	1.000	T
PAX3	5077	genome.wustl.edu	37	2	223066140	223066140	+	3'UTR	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:223066140G>T	ENST00000350526.4	-	0	2079				PAX3_ENST00000336840.6_Missense_Mutation_p.Q399K|PAX3_ENST00000409551.3_Missense_Mutation_p.P480Q|PAX3_ENST00000392069.2_Missense_Mutation_p.P481Q|PAX3_ENST00000392070.2_Missense_Mutation_p.P481Q|PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000344493.4_Missense_Mutation_p.Q399K	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P481Q(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCGATATCTGGCTTGAGATA	0.453			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	lung(1)											87.0	88.0	87.0					2																	223066140		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.*503C>A	2.37:g.223066140G>T			G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.P481Q	ENST00000350526.4	37	c.1442	CCDS42826.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.607733|2.607733	0.46527|0.46527	.|.	.|.	ENSG00000135903|ENSG00000135903	ENST00000392069;ENST00000392070;ENST00000409551|ENST00000344493;ENST00000336840	D;D;D|D;D	0.93763|0.93859	-3.27;-3.27;-3.28|-3.3;-3.29	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	1.842720|.	0.03191|.	N|.	0.173328|.	D|D	0.91057|0.91057	0.7186|0.7186	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|B;B	0.76494|0.27140	0.998;0.999|0.099;0.169	D;D|B;B	0.80764|0.23018	0.987;0.994|0.043;0.043	D|D	0.87097|0.87097	0.2176|0.2176	9|8	0.72032|0.44086	D|T	0.01|0.13	.|.	20.3626|20.3626	0.98863|0.98863	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	480;481|399;399	Q494Z4;G5E9C1|P23760-4;P23760-5	.;.|.;.	Q|K	481;481;480|399	ENSP00000375921:P481Q;ENSP00000375922:P481Q;ENSP00000386750:P480Q|ENSP00000342092:Q399K;ENSP00000338767:Q399K	ENSP00000375921:P481Q|ENSP00000338767:Q399K	P|Q	-|-	2|1	0|0	PAX3|PAX3	222774384|222774384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.479000|7.479000	0.81095|0.81095	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CCA|CAG	PAX3	-	NULL	ENSG00000135903		0.453	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	-	0.00	44	0	G			223066140	-1	tier1	-	no_errors	ENST00000392069	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
PCDH17	27253	genome.wustl.edu	37	13	58208430	58208430	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:58208430G>A	ENST00000377918.3	+	1	1776	c.1750G>A	c.(1750-1752)Gtg>Atg	p.V584M		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	584					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCAGTGATCGTGCTCCCCAC	0.647																																					Melanoma(72;952 1291 1619 12849 33676)												0													35.0	35.0	35.0					13																	58208430		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1750G>A	13.37:g.58208430G>A	ENSP00000367151:p.Val584Met		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V584M	ENST00000377918.3	37	c.1750	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750368	0.49257	.	.	ENSG00000118946	ENST00000377918	T	0.61274	0.12	5.63	5.63	0.86233	Cadherin-like (1);	0.111223	0.64402	D	0.000009	T	0.59418	0.2192	L	0.37561	1.115	0.37607	D	0.92079	D;P	0.57571	0.98;0.934	P;P	0.54100	0.742;0.557	T	0.60989	-0.7153	9	.	.	.	.	14.5038	0.67739	0.0:0.0:0.8533:0.1467	.	584;584	O14917-2;O14917	.;PCD17_HUMAN	M	584	ENSP00000367151:V584M	.	V	+	1	0	PCDH17	57106431	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	4.807000	0.62576	2.650000	0.89964	0.561000	0.74099	GTG	PCDH17	-	superfamily_Cadherin-like	ENSG00000118946		0.647	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1		0.00	21	0	G	NM_001040429		58208430	+1			no_errors	ENST00000377918	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A
PCDH18	54510	genome.wustl.edu	37	4	138451482	138451482	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:138451482T>G	ENST00000344876.4	-	1	2147	c.1761A>C	c.(1759-1761)gaA>gaC	p.E587D	PCDH18_ENST00000412923.2_Missense_Mutation_p.E587D|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E367D|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAATGGTGATTTCTGCCGTAT	0.463																																																	0													209.0	195.0	200.0					4																	138451482		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1761A>C	4.37:g.138451482T>G	ENSP00000355082:p.Glu587Asp		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E587D	ENST00000344876.4	37	c.1761	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	T	13.18	2.158773	0.38119	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.60171	0.21;0.21;0.21	5.93	-4.9	0.03094	Cadherin (2);Cadherin-like (1);	0.152178	0.29876	N	0.010965	T	0.39989	0.1099	L	0.51422	1.61	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.12837	0.002;0.004;0.008	T	0.03717	-1.1010	10	0.24483	T	0.36	.	6.4201	0.21738	0.0:0.2418:0.3273:0.4309	.	367;587;587	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	D	587;587;367	ENSP00000355082:E587D;ENSP00000390688:E587D;ENSP00000425903:E367D	ENSP00000355082:E587D	E	-	3	2	PCDH18	138670932	0.915000	0.31059	0.907000	0.35723	0.918000	0.54935	-0.024000	0.12435	-0.689000	0.05149	0.460000	0.39030	GAA	PCDH18	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000189184		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0.00	24	0	T	NM_019035		138451482	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.862	G
PCDH9	5101	genome.wustl.edu	37	13	67802465	67802465	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:67802465T>G	ENST00000377865.2	-	1	242	c.108A>C	c.(106-108)gaA>gaC	p.E36D	PCDH9_ENST00000377861.3_Missense_Mutation_p.E36D|PCDH9_ENST00000456367.1_Missense_Mutation_p.E36D|PCDH9_ENST00000328454.5_Missense_Mutation_p.E36D|PCDH9_ENST00000544246.1_Missense_Mutation_p.E36D			Q9HC56	PCDH9_HUMAN	protocadherin 9	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGGCACATTTTCAGGCAATT	0.443																																																	0													109.0	104.0	106.0					13																	67802465		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.108A>C	13.37:g.67802465T>G	ENSP00000367096:p.Glu36Asp		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E36D	ENST00000377865.2	37	c.108	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619310	0.28801	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.82	4.64	0.57946	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	M	0.70903	2.155	0.58432	D	0.99999	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	D;D;D;D	0.91635	0.977;0.998;0.997;0.999	T	0.50338	-0.8840	10	0.42905	T	0.14	.	11.5532	0.50733	0.0:0.0697:0.0:0.9303	.	36;36;36;36	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	D	36	ENSP00000442186:E36D;ENSP00000367096:E36D;ENSP00000401699:E36D;ENSP00000332060:E36D;ENSP00000367092:E36D	ENSP00000332060:E36D	E	-	3	2	PCDH9	66700466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.035000	0.57297	1.037000	0.40024	0.528000	0.53228	GAA	PCDH9	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000184226		0.443	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	81	0	T	NM_203487		67802465	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	34.72	47	25	SNP	1.000	G
PCDHA8	56140	genome.wustl.edu	37	5	140221171	140221171	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:140221171C>T	ENST00000531613.1	+	1	265	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R89W|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	89	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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAATTCTCGGATCGACCG	0.617																																																	0													66.0	91.0	83.0					5																	140221171		2196	4287	6483	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.265C>T	5.37:g.140221171C>T	ENSP00000434655:p.Arg89Trp		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R89W	ENST00000531613.1	37	c.265	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388178	0.61956	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.36157	1.27;1.27	3.91	3.91	0.45181	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.268702	0.19629	U	0.109735	T	0.60702	0.2289	H	0.98664	4.295	0.21897	N	0.999482	P;D	0.53312	0.943;0.959	P;P	0.48627	0.564;0.584	T	0.65606	-0.6127	10	0.72032	D	0.01	.	8.5195	0.33266	0.2415:0.6189:0.1396:0.0	.	89;89	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	W	89	ENSP00000434655:R89W;ENSP00000367363:R89W	ENSP00000367363:R89W	R	+	1	2	PCDHA8	140201355	0.020000	0.18652	1.000000	0.80357	0.970000	0.65996	1.490000	0.35573	1.900000	0.55004	0.552000	0.68991	CGG	PCDHA8	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204962		0.617	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0.00	114	0	C	NM_018911		140221171	+1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	16.13	104	20	SNP	0.752	T
PCDHA12	56137	genome.wustl.edu	37	5	140255345	140255345	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:140255345C>T	ENST00000398631.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	96	Cadherin 1. {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)	p.C96C(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGCTGTGCGGGCGGAGCG	0.562																																					Pancreas(113;759 1672 13322 24104 50104)												1	Substitution - coding silent(1)	endometrium(1)											114.0	130.0	124.0					5																	140255345		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.288C>T	5.37:g.140255345C>T			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.C96	ENST00000398631.2	37	c.288	CCDS47285.1	5																																																																																			PCDHA12	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000251664		0.562	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0.00	152	0	C	NM_018903		140255345	+1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	18.52	110	25	SNP	0.070	T
PCDHB16	57717	genome.wustl.edu	37	5	140562569	140562569	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:140562569C>T	ENST00000361016.2	+	1	1590	c.435C>T	c.(433-435)aaC>aaT	p.N145N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCGGAAAACAGTCCTCTAG	0.388																																																	0													40.0	42.0	41.0					5																	140562569		2203	4300	6503	SO:0001819	synonymous_variant	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.435C>T	5.37:g.140562569C>T			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N145	ENST00000361016.2	37	c.435	CCDS4251.1	5																																																																																			PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196963		0.388	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	-	0.00	33	0	C	NM_020957		140562569	+1	tier1	-	no_errors	ENST00000361016	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.000	T
PCYT1B	9468	genome.wustl.edu	37	X	24665159	24665159	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:24665159G>A	ENST00000379144.2	-	1	194	c.64C>T	c.(64-66)Cct>Tct	p.P22S	PCYT1B_ENST00000379145.1_Intron|PCYT1B_ENST00000356768.4_Missense_Mutation_p.P22S	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	22					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TCTGAGGGAGGCTCATTGGAA	0.483																																																	0													201.0	150.0	167.0					X																	24665159		2203	4300	6503	SO:0001583	missense	0			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.64C>T	X.37:g.24665159G>A	ENSP00000368439:p.Pro22Ser		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	p.P22S	ENST00000379144.2	37	c.64	CCDS14213.1	X	.	.	.	.	.	.	.	.	.	.	g	7.377	0.628074	0.14257	.	.	ENSG00000102230	ENST00000379144;ENST00000356768	.	.	.	4.88	4.88	0.63580	.	0.324811	0.25925	N	0.027412	T	0.38983	0.1061	N	0.14661	0.345	0.42943	D	0.994354	B;B	0.11235	0.004;0.0	B;B	0.13407	0.009;0.0	T	0.26608	-1.0098	9	0.09084	T	0.74	-7.5108	15.9172	0.79531	0.0:0.0:1.0:0.0	.	22;22	Q9Y5K3-2;Q9Y5K3	.;PCY1B_HUMAN	S	22	.	ENSP00000349211:P22S	P	-	1	0	PCYT1B	24575080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.794000	0.62482	2.272000	0.75746	0.585000	0.79938	CCT	PCYT1B	-	NULL	ENSG00000102230		0.483	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	HGNC	protein_coding	OTTHUMT00000056103.1		0.00	28	0	G	NM_004845		24665159	-1			no_errors	ENST00000379144	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A
PDIA3	2923	genome.wustl.edu	37	15	44063384	44063386	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:44063384_44063386delAAG	ENST00000300289.5	+	13	1634_1636	c.1486_1488delAAG	c.(1486-1488)aagdel	p.K500del	ELL3_ENST00000497465.1_5'Flank|PDIA3_ENST00000538521.1_In_Frame_Del_p.K480del	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	500					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGAAAAACCCAAGAAGAAGAAGA	0.419																																																	0																																										SO:0001651	inframe_deletion	0				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1486_1488delAAG	15.37:g.44063393_44063395delAAG	ENSP00000300289:p.Lys500del		Q13453|Q14255|Q8IYF8|Q9UMU7	In_Frame_Del	DEL	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.K499in_frame_del	ENST00000300289.5	37	c.1486_1488	CCDS10101.1	15																																																																																			PDIA3	-	tigrfam_Prot_disulphide_isomerase	ENSG00000167004		0.419	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA3	HGNC	protein_coding	OTTHUMT00000103532.3		0.00	41	0	AAG	NM_005313		44063386	+1	tier1		no_errors	ENST00000300289	ensembl	human	known	74_37	in_frame_del	8.70	21	2	DEL	1.000:1.000:1.000	-
PHC2	1912	genome.wustl.edu	37	1	33794743	33794743	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:33794743G>A	ENST00000257118.5	-	13	2203	c.2150C>T	c.(2149-2151)aCa>aTa	p.T717I	PHC2_ENST00000373422.3_Missense_Mutation_p.T323I|PHC2_ENST00000373418.3_Missense_Mutation_p.T182I|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Missense_Mutation_p.T182I|PHC2_ENST00000431992.1_Missense_Mutation_p.T688I|PHC2_ENST00000419414.2_Missense_Mutation_p.T718I	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	717					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CACAGTGCCTGTTGGCTGGGA	0.498																																																	0													56.0	52.0	53.0					1																	33794743		2203	4300	6503	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2150C>T	1.37:g.33794743G>A	ENSP00000257118:p.Thr717Ile		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.T718I	ENST00000257118.5	37	c.2153	CCDS378.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.13|13.13	2.144019|2.144019	0.37825|0.37825	.|.	.|.	ENSG00000134686|ENSG00000134686	ENST00000307890|ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000419414;ENST00000373416	.|T;T;T;T	.|0.44881	.|1.9;1.47;0.91;1.9	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.453119	.|0.25863	.|N	.|0.027804	.|T	.|0.23171	.|0.0560	N|N	0.04959|0.04959	-0.14|-0.14	0.27604|0.27604	N|N	0.948871|0.948871	.|B;B;B;B	.|0.12630	.|0.004;0.004;0.004;0.006	.|B;B;B;B	.|0.18561	.|0.006;0.006;0.006;0.022	.|T	.|0.10543	.|-1.0625	.|10	0.11794|0.38643	T|T	0.64|0.18	-10.3051|-10.3051	11.0032|11.0032	0.47618|0.47618	0.0838:0.0:0.9162:0.0|0.0838:0.0:0.9162:0.0	.|.	.|718;689;717;132	.|A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.|.;.;PHC2_HUMAN;.	X|I	295|688;717;323;182;718;182	.|ENSP00000389436:T688I;ENSP00000257118:T717I;ENSP00000362521:T323I;ENSP00000391440:T718I	ENSP00000310685:Q295X|ENSP00000257118:T717I	Q|T	-|-	1|2	0|0	PHC2|PHC2	33567330|33567330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.333000|5.333000	0.65917|0.65917	2.771000|2.771000	0.95319|0.95319	0.561000|0.561000	0.74099|0.74099	CAG|ACA	PHC2	-	NULL	ENSG00000134686		0.498	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1		0.00	48	0	G	NM_198040		33794743	-1			no_errors	ENST00000419414	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.978	A
PHF12	57649	genome.wustl.edu	37	17	27233339	27233339	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:27233339C>T	ENST00000332830.4	-	15	3687	c.2877G>A	c.(2875-2877)caG>caA	p.Q959Q	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGAAGACAAACTGCAGGCAGC	0.607																																																	0													59.0	60.0	60.0					17																	27233339		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2877G>A	17.37:g.27233339C>T				Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.Q959	ENST00000332830.4	37	c.2877	CCDS32598.1	17																																																																																			PHF12	-	NULL	ENSG00000109118		0.607	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	-	0.00	38	0	C	NM_020889		27233339	-1	tier1	-	no_errors	ENST00000332830	ensembl	human	known	74_37	silent	7.81	59	5	SNP	1.000	T
PHKA1	5255	genome.wustl.edu	37	X	71933721	71933721	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:71933721C>T	ENST00000373542.4	-	1	167	c.8G>A	c.(7-9)aGc>aAc	p.S3N	PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000339490.3_Missense_Mutation_p.S3N|PHKA1_ENST00000373539.3_Missense_Mutation_p.S3N|PHKA1_ENST00000373545.3_Missense_Mutation_p.S3N|PHKA1_ENST00000541944.1_Missense_Mutation_p.S3N	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	3					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTTACTCCGGCTCCTCATGGC	0.587																																																	0													56.0	46.0	49.0					X																	71933721		2203	4300	6503	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.8G>A	X.37:g.71933721C>T	ENSP00000362643:p.Ser3Asn		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.S3N	ENST00000373542.4	37	c.8	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507948	0.85282	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92858	-3.03;-3.12;-3.02;-3.09;-3.09	4.72	4.72	0.59763	Six-hairpin glycosidase-like (1);	0.041485	0.85682	D	0.000000	D	0.94072	0.8100	M	0.76170	2.325	0.80722	D	1	P;P;D	0.52996	0.799;0.694;0.957	B;B;P	0.54499	0.24;0.358;0.754	D	0.94257	0.7499	10	0.52906	T	0.07	-7.6833	14.4883	0.67631	0.0:1.0:0.0:0.0	.	3;3;3	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	N	3	ENSP00000362646:S3N;ENSP00000362643:S3N;ENSP00000441251:S3N;ENSP00000342469:S3N;ENSP00000362640:S3N	ENSP00000342469:S3N	S	-	2	0	PHKA1	71850446	1.000000	0.71417	0.998000	0.56505	0.372000	0.29890	7.415000	0.80131	2.087000	0.62958	0.529000	0.55759	AGC	PHKA1	-	superfamily_6-hairpin_glycosidase-like	ENSG00000067177		0.587	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	-	0.00	34	0	C			71933721	-1	tier1	-	no_errors	ENST00000373539	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T
PIGO	84720	genome.wustl.edu	37	9	35091859	35091859	+	Silent	SNP	C	C	A	rs368209276		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:35091859C>A	ENST00000378617.3	-	7	2419	c.2025G>T	c.(2023-2025)gcG>gcT	p.A675A	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Silent_p.A675A	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	675					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.A675A(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACCAGCGCCGCCACACAAG	0.602																																																	1	Substitution - coding silent(1)	lung(1)											44.0	46.0	45.0					9																	35091859		2203	4300	6503	SO:0001819	synonymous_variant	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2025G>T	9.37:g.35091859C>A			B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.A675	ENST00000378617.3	37	c.2025	CCDS6575.1	9																																																																																			PIGO	-	NULL	ENSG00000165282		0.602	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1		0.00	49	0	C	NM_032634		35091859	-1			no_errors	ENST00000341666	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.001	A
PIWIL2	55124	genome.wustl.edu	37	8	22168808	22168808	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:22168808G>T	ENST00000454009.2	+	16	2493	c.1984G>T	c.(1984-1986)Gct>Tct	p.A662S	PIWIL2_ENST00000356766.6_Missense_Mutation_p.A662S|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A662S	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	662					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CACGTTAGGAGCTGAGGTAAA	0.383																																																	0													82.0	85.0	84.0					8																	22168808		2203	4300	6503	SO:0001583	missense	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1984G>T	8.37:g.22168808G>T	ENSP00000406956:p.Ala662Ser		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.A662S	ENST00000454009.2	37	c.1984	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	G	3.122	-0.180420	0.06380	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.14391	2.51;2.51;2.51	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.279242	0.38897	N	0.001523	T	0.04497	0.0123	N	0.01352	-0.895	0.23381	N	0.997799	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.35968	-0.9767	10	0.08599	T	0.76	.	12.5389	0.56158	0.0803:0.0:0.9197:0.0	.	662;662	E7ECA4;Q8TC59	.;PIWL2_HUMAN	S	662	ENSP00000349208:A662S;ENSP00000428267:A662S;ENSP00000406956:A662S	ENSP00000349208:A662S	A	+	1	0	PIWIL2	22224753	0.999000	0.42202	1.000000	0.80357	0.763000	0.43281	4.038000	0.57318	2.652000	0.90054	0.555000	0.69702	GCT	PIWIL2	-	superfamily_RNaseH-like_dom	ENSG00000197181		0.383	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1		0.00	51	0	G			22168808	+1			no_errors	ENST00000356766	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
PLBD2	196463	genome.wustl.edu	37	12	113806984	113806984	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:113806984C>T	ENST00000280800.3	+	2	385	c.354C>T	c.(352-354)gcC>gcT	p.A118A	PLBD2_ENST00000545182.2_Silent_p.A118A	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	118					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTATGCAGCCGGTGTGGTGG	0.632																																																	0													57.0	49.0	52.0					12																	113806984		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.354C>T	12.37:g.113806984C>T			F5H5E2	Silent	SNP	pfam_PLipase_B-like	p.A118	ENST00000280800.3	37	c.354	CCDS9168.1	12																																																																																			PLBD2	-	pfam_PLipase_B-like	ENSG00000151176		0.632	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD2	HGNC	protein_coding	OTTHUMT00000404835.1	-	0.00	51	0	C	NM_173542		113806984	+1	tier1	-	no_errors	ENST00000280800	ensembl	human	known	74_37	silent	58.33	20	28	SNP	0.603	T
PLEKHG5	57449	genome.wustl.edu	37	1	6527943	6527943	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:6527943G>C	ENST00000400915.3	-	21	3187	c.3121C>G	c.(3121-3123)Ctg>Gtg	p.L1041V	TNFRSF25_ENST00000348333.3_5'Flank|TNFRSF25_ENST00000461703.2_5'Flank|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.L985V|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P918R|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.L985V|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.L985V|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.L1054V|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P918R|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.L985V|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.L1064V|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.L831V|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.L1022V|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.L1062V	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	1041					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGGGCCAGGGTCAGCTTC	0.667																																																	0													31.0	34.0	33.0					1																	6527943		2202	4300	6502	SO:0001583	missense	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.3121C>G	1.37:g.6527943G>C	ENSP00000383706:p.Leu1041Val		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1064V	ENST00000400915.3	37	c.3190	CCDS41241.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.50|12.50	1.956238|1.956238	0.34565|0.34565	.|.	.|.	ENSG00000171680|ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245|ENST00000377725;ENST00000544978	T;T;T;T;T;T;T;T;T;T|T;T	0.74737|0.64991	-0.79;-0.81;-0.81;-0.79;-0.87;-0.79;-0.81;-0.8;-0.81;-0.8|-0.13;-0.13	5.49|5.49	2.52|2.52	0.30459|0.30459	.|.	0.250782|.	0.33477|.	N|.	0.004874|.	T|T	0.46756|0.46756	0.1409|0.1409	N|N	0.20986|0.20986	0.625|0.625	0.28128|0.28128	N|N	0.930328|0.930328	P;B;P;P|B	0.40619|0.23806	0.724;0.132;0.724;0.603|0.091	B;B;B;B|B	0.43155|0.25884	0.41;0.028;0.41;0.232|0.064	T|T	0.43972|0.43972	-0.9358|-0.9358	10|9	0.30078|0.87932	T|D	0.28|0	-10.8986|-10.8986	7.5551|7.5551	0.27819|0.27819	0.3522:0.0:0.6477:0.0|0.3522:0.0:0.6477:0.0	.|.	1054;831;1062;1041|918	F5GZ21;Q5SY18;O94827-2;O94827|O94827-4	.;.;.;PKHG5_HUMAN|.	V|R	1062;985;985;1041;831;1022;985;1054;985;891;1064|918	ENSP00000366977:L1062V;ENSP00000344570:L985V;ENSP00000383704:L985V;ENSP00000383706:L1041V;ENSP00000366969:L831V;ENSP00000366961:L1022V;ENSP00000366957:L985V;ENSP00000441445:L1054V;ENSP00000366966:L985V;ENSP00000439625:L1064V|ENSP00000366954:P918R;ENSP00000437710:P918R	ENSP00000344570:L985V|ENSP00000366954:P918R	L|P	-|-	1|2	2|0	PLEKHG5|PLEKHG5	6450530|6450530	0.111000|0.111000	0.22076|0.22076	0.974000|0.974000	0.42286|0.42286	0.947000|0.947000	0.59692|0.59692	0.411000|0.411000	0.21115|0.21115	0.245000|0.245000	0.21373|0.21373	0.563000|0.563000	0.77884|0.77884	CTG|CCT	PLEKHG5	-	NULL	ENSG00000171680		0.667	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	-	0.00	37	0	G	NM_020631		6527943	-1	tier1	-	no_errors	ENST00000537245	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.990	C
POMGNT2	84892	genome.wustl.edu	37	3	43121490	43121490	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:43121490G>A	ENST00000344697.2	-	2	1779	c.1434C>T	c.(1432-1434)gtC>gtT	p.V478V	POMGNT2_ENST00000441964.1_Silent_p.V478V	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	478					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GATATAGGCCGACTGTCCACT	0.632																																																	0													61.0	57.0	59.0					3																	43121490		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1434C>T	3.37:g.43121490G>A			B3KWC3|Q96SY3	Silent	SNP	pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.V478	ENST00000344697.2	37	c.1434	CCDS2709.1	3																																																																																			POMGNT2	-	NULL	ENSG00000144647		0.632	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT2	HGNC	protein_coding	OTTHUMT00000256643.1		0.00	13	0	G	NM_032806		43121490	-1			no_errors	ENST00000344697	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.000	A
PLXNA1	5361	genome.wustl.edu	37	3	126724929	126724929	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:126724929G>T	ENST00000393409.2	+	7	1905	c.1905G>T	c.(1903-1905)caG>caT	p.Q635H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Q612H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	635					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGAGACCAGCGGGTGGTGA	0.572																																																	0													189.0	167.0	174.0					3																	126724929		2203	4300	6503	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1905G>T	3.37:g.126724929G>T	ENSP00000377061:p.Gln635His			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Q635H	ENST00000393409.2	37	c.1905	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	1.110	-0.658399	0.03454	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.07908	3.15;3.15	3.37	2.47	0.30058	.	1.078970	0.07412	N	0.892532	T	0.04770	0.0129	N	0.11560	0.145	0.36227	D	0.852363	B	0.14438	0.01	B	0.19946	0.027	T	0.30707	-0.9969	10	0.02654	T	1	.	11.1837	0.48644	0.0934:0.0:0.9066:0.0	.	635	Q9UIW2	PLXA1_HUMAN	H	635;612	ENSP00000377061:Q635H;ENSP00000251772:Q612H	ENSP00000251772:Q612H	Q	+	3	2	PLXNA1	128207619	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.150000	0.50662	0.741000	0.32674	0.467000	0.42956	CAG	PLXNA1	-	NULL	ENSG00000114554		0.572	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0.00	44	0	G	NM_032242		126724929	+1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T
PPFIA2	8499	genome.wustl.edu	37	12	81671098	81671098	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:81671098T>C	ENST00000549396.1	-	28	3468	c.3308A>G	c.(3307-3309)aAa>aGa	p.K1103R	PPFIA2_ENST00000548586.1_Missense_Mutation_p.K1097R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.K639R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K998R|PPFIA2_ENST00000541017.1_Missense_Mutation_p.K289R|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K950R|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K1088R|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K1091R|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K1082R|PPFIA2_ENST00000550584.2_Missense_Mutation_p.K1103R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K1002R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1103					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TATATTACCTTTTATTTCATG	0.303																																																	0													117.0	109.0	111.0					12																	81671098		1807	4051	5858	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3308A>G	12.37:g.81671098T>C	ENSP00000450337:p.Lys1103Arg		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.K1103R	ENST00000549396.1	37	c.3308	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813864	0.32053	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.95	5.95	0.96441	Sterile alpha motif/pointed domain (2);	0.115273	0.64402	D	0.000016	T	0.32376	0.0827	L	0.28192	0.835	0.42125	D	0.991445	B	0.06786	0.001	B	0.04013	0.001	T	0.08229	-1.0732	10	0.25106	T	0.35	-14.4485	16.0799	0.81000	0.0:0.0:0.0:1.0	.	1103	O75334	LIPA2_HUMAN	R	1103;1088;639;289;1002;1114;1091;1097;998;1082	ENSP00000450337:K1103R;ENSP00000450298:K1088R;ENSP00000438337:K639R;ENSP00000445532:K289R;ENSP00000385093:K1002R;ENSP00000327416:K1091R;ENSP00000449338:K1097R;ENSP00000388373:K998R;ENSP00000447868:K1082R	ENSP00000327416:K1091R	K	-	2	0	PPFIA2	80195229	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.385000	0.59613	2.278000	0.76064	0.533000	0.62120	AAA	PPFIA2	-	superfamily_SAM/pointed	ENSG00000139220		0.303	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0.00	61	0	T			81671098	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	C
PPM1J	333926	genome.wustl.edu	37	1	113253406	113253406	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:113253406G>A	ENST00000309276.6	-	8	1353	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Silent_p.F74F|PPM1J_ENST00000359994.4_Missense_Mutation_p.S187F|PPM1J_ENST00000464951.1_Missense_Mutation_p.S187F	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	393	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCAGGGTGGAACTGCAGAC	0.572																																																	0													114.0	109.0	111.0					1																	113253406		2203	4300	6503	SO:0001583	missense	0			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1178C>T	1.37:g.113253406G>A	ENSP00000308926:p.Ser393Phe		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.S393F	ENST00000309276.6	37	c.1178	CCDS855.2	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144110	0.77888	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.09630	2.96;2.96	5.34	5.34	0.76211	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.976	T	0.01182	-1.1426	10	0.87932	D	0	-19.5948	18.6692	0.91504	0.0:0.0:1.0:0.0	.	393;187	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	F	393;187	ENSP00000308926:S393F;ENSP00000353088:S187F	ENSP00000308926:S393F	S	-	2	0	PPM1J	113054929	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	9.763000	0.98947	2.514000	0.84764	0.485000	0.47835	TCC	PPM1J	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000155367		0.572	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1J	HGNC	protein_coding	OTTHUMT00000033251.1	-	0.00	49	0	G	NM_005167		113253406	-1	tier1	-	no_errors	ENST00000309276	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
PPP1R17	10842	genome.wustl.edu	37	7	31732111	31732111	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:31732111A>T	ENST00000342032.3	+	2	684	c.56A>T	c.(55-57)aAg>aTg	p.K19M	PPP1R17_ENST00000409146.3_Missense_Mutation_p.K19M	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	19					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										AGACTGGACAAGCTAGACCCT	0.488																																																	0													114.0	98.0	104.0					7																	31732111		2203	4300	6503	SO:0001583	missense	0			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.56A>T	7.37:g.31732111A>T	ENSP00000340125:p.Lys19Met		B4DE58|Q9UDQ0	Missense_Mutation	SNP	NULL	p.K19M	ENST00000342032.3	37	c.56	CCDS5436.1	7	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988893	0.53934	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.39592	1.07;1.25	6.16	0.987	0.19790	.	0.491175	0.22859	N	0.054777	T	0.43500	0.1250	L	0.56769	1.78	0.40805	D	0.983375	D;D	0.58268	0.963;0.982	P;P	0.52267	0.661;0.694	T	0.35919	-0.9769	10	0.72032	D	0.01	-4.3733	4.7431	0.13024	0.4776:0.3487:0.0621:0.1116	.	19;19	B4DE58;O96001	.;PPR17_HUMAN	M	19	ENSP00000340125:K19M;ENSP00000386459:K19M	ENSP00000340125:K19M	K	+	2	0	C7orf16	31698636	1.000000	0.71417	0.921000	0.36526	0.730000	0.41778	1.677000	0.37576	-0.052000	0.13311	-0.299000	0.09455	AAG	PPP1R17	-	NULL	ENSG00000106341		0.488	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	-	0.00	68	0	A	NM_006658		31732111	+1	tier1	-	no_errors	ENST00000342032	ensembl	human	known	74_37	missense	18.10	86	19	SNP	0.973	T
PRAMEF11	440560	genome.wustl.edu	37	1	12885133	12885133	+	Silent	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:12885133T>C	ENST00000535591.1	-	4	1173	c.978A>G	c.(976-978)caA>caG	p.Q326Q	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	326					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGGCGTTGACTTGGGAGTCTA	0.512																																																	0													10.0	7.0	8.0					1																	12885133		689	1562	2251	SO:0001819	synonymous_variant	0			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.978A>G	1.37:g.12885133T>C				Silent	SNP	NULL	p.Q326	ENST00000535591.1	37	c.978	CCDS53268.1	1																																																																																			PRAMEF11	-	NULL	ENSG00000204513		0.512	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		-	0.00	202	0	T	XM_496341		12885133	-1	tier1	-	no_errors	ENST00000535591	ensembl	human	known	74_37	silent	25.68	136	47	SNP	0.020	C
PRCD	768206	genome.wustl.edu	37	17	74540722	74540723	+	IGR	DEL	TC	TC	-			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:74540722_74540723delTC	ENST00000586148.1	+	0	630				CYGB_ENST00000589145.1_Intron|RP11-666A8.8_ENST00000589963.1_RNA|PRCD_ENST00000592432.1_Intron			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration						response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGTCAGCCTGTCTCTCTCTTTG	0.624																																																	0																																										SO:0001628	intergenic_variant	0			DQ390338	CCDS42382.1	17q25.1	2008-10-24			ENSG00000214140	ENSG00000214140			32528	protein-coding gene	gene with protein product		610598				16938425	Standard	NM_001077620		Approved	RP36	uc002jrw.1	Q00LT1	OTTHUMG00000132200		17.37:g.74540728_74540729delTC			B9EJD4	RNA	DEL	-	NULL	ENST00000586148.1	37	NULL	CCDS42382.1	17																																																																																			PRCD	-	-	ENSG00000214140		0.624	PRCD-008	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PRCD	HGNC	protein_coding	OTTHUMT00000450598.1		0.00	48	0	TC			74540723	+1	tier1		no_errors	ENST00000397633	ensembl	human	known	74_37	rna	26.09	34	12	DEL	0.976:0.591	-
PRDM14	63978	genome.wustl.edu	37	8	70980758	70980758	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:70980758G>T	ENST00000276594.2	-	3	911	c.710C>A	c.(709-711)tCt>tAt	p.S237Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	237					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTGAGGAAGAGAATCAGATCC	0.388																																					NSCLC(129;99 1813 5906 40656 46114)												0													87.0	84.0	85.0					8																	70980758		2203	4300	6503	SO:0001583	missense	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.710C>A	8.37:g.70980758G>T	ENSP00000276594:p.Ser237Tyr		Q86UX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S237Y	ENST00000276594.2	37	c.710	CCDS6206.1	8	.	.	.	.	.	.	.	.	.	.	G	1.273	-0.612403	0.03690	.	.	ENSG00000147596	ENST00000276594	T	0.12147	2.71	5.05	1.96	0.26148	.	0.402479	0.17601	N	0.168415	T	0.14657	0.0354	M	0.74258	2.255	0.22762	N	0.998761	P	0.45902	0.868	B	0.40285	0.325	T	0.20571	-1.0271	10	0.66056	D	0.02	-0.7081	3.6233	0.08104	0.0912:0.1394:0.5582:0.2112	.	237	Q9GZV8	PRD14_HUMAN	Y	237	ENSP00000276594:S237Y	ENSP00000276594:S237Y	S	-	2	0	PRDM14	71143312	0.006000	0.16342	0.605000	0.28930	0.929000	0.56500	1.121000	0.31283	0.168000	0.19655	0.491000	0.48974	TCT	PRDM14	-	NULL	ENSG00000147596		0.388	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	-	0.00	40	0	G			70980758	-1	tier1	-	no_errors	ENST00000276594	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.519	T
PRF1	5551	genome.wustl.edu	37	10	72358049	72358049	+	Frame_Shift_Del	DEL	C	C	-	rs145695221	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:72358049delC	ENST00000441259.1	-	3	1588	c.1428delG	c.(1426-1428)gggfs	p.G476fs	PRF1_ENST00000373209.2_Frame_Shift_Del_p.G476fs	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	476	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						ACCTCAGGGGCCCCCCTGTGG	0.602			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0													84.0	95.0	92.0					10																	72358049		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1428delG	10.37:g.72358049delC	ENSP00000398568:p.Gly476fs		B2R6X4|Q59F57|Q86WX7	Frame_Shift_Del	DEL	pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom	p.L478fs	ENST00000441259.1	37	c.1428	CCDS7305.1	10																																																																																			PRF1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000180644		0.602	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2		0.00	29	0	C	NM_005041		72358049	-1	tier1		no_errors	ENST00000373209	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	0.000	-
PRKDC	5591	genome.wustl.edu	37	8	48751732	48751733	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:48751732_48751733insA	ENST00000314191.2	-	57	7582_7583	c.7526_7527insT	c.(7525-7527)ttgfs	p.L2509fs	PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.L2509fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2510	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCTCATCGATCAATCCTTGAAT	0.391								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0																																										SO:0001589	frameshift_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7527dupT	8.37:g.48751734_48751734dupA	ENSP00000313420:p.Leu2509fs		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2509fs	ENST00000314191.2	37	c.7527_7526		8																																																																																			PRKDC	-	NULL	ENSG00000253729		0.391	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding			0.00	66	0	-	NM_001081640		48751733	-1	tier1		no_errors	ENST00000314191	ensembl	human	known	74_37	frame_shift_ins	25.71	52	18	INS	0.988:0.996	A
PRRC2A	7916	genome.wustl.edu	37	6	31601702	31601702	+	Missense_Mutation	SNP	G	G	A	rs144821309		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:31601702G>A	ENST00000376033.2	+	18	4889	c.4655G>A	c.(4654-4656)gGg>gAg	p.G1552E	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G1552E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1552	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GACTCTGCCGGGGTTAGTCCC	0.592																																																	0								G	GLU/GLY,GLU/GLY	1,3015		0,1,1507	79.0	94.0	89.0		4655,4655	5.6	1.0	6	dbSNP_134	89	0,5414		0,0,2707	no	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	98,98	0,1,4214	AA,AG,GG		0.0,0.0332,0.0119	probably-damaging,probably-damaging	1552/2158,1552/2158	31601702	1,8429	1508	2707	4215	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4655G>A	6.37:g.31601702G>A	ENSP00000365201:p.Gly1552Glu		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.G1552E	ENST00000376033.2	37	c.4655	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	9.423	1.083515	0.20309	3.32E-4	0.0	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01647	4.71;4.71	5.6	5.6	0.85130	.	0.217287	0.32918	N	0.005495	T	0.00967	0.0032	N	0.19112	0.55	0.28317	N	0.922396	P	0.43750	0.816	B	0.43916	0.436	T	0.50162	-0.8860	10	0.87932	D	0	-4.8126	12.8107	0.57637	0.0:0.1642:0.8358:0.0	.	1552	P48634	PRC2A_HUMAN	E	1546;1535;1552;1552;777	ENSP00000365175:G1552E;ENSP00000365201:G1552E	ENSP00000365175:G1552E	G	+	2	0	PRRC2A	31709681	1.000000	0.71417	0.961000	0.40146	0.293000	0.27360	2.446000	0.44908	2.639000	0.89480	0.561000	0.74099	GGG	PRRC2A	-	NULL	ENSG00000204469		0.592	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	-	0.00	71	0	G	NM_080686		31601702	+1	tier1	rs144821309	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.977	A
PTMA	5757	genome.wustl.edu	37	2	232577616	232577616	+	3'UTR	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:232577616A>G	ENST00000341369.7	+	0	582				PTMA_ENST00000409321.1_3'UTR|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409115.3_3'UTR|PTMA_ENST00000409683.1_3'UTR	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha						transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGACCTATTCACCCTCCACTT	0.527																																																	0													7.0	9.0	9.0					2																	232577616		687	1587	2274	SO:0001624	3_prime_UTR_variant	0				CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"""gene sequence 28"""	188390	"""prothymosin, alpha (gene sequence 28)"""	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.*55A>G	2.37:g.232577616A>G			Q15249|Q15592	RNA	SNP	-	NULL	ENST00000341369.7	37	NULL	CCDS42833.1	2																																																																																			PTMA	-	-	ENSG00000187514		0.527	PTMA-002	KNOWN	basic|CCDS	protein_coding	PTMA	HGNC	protein_coding	OTTHUMT00000332553.1	-	0.00	39	0	A			232577616	+1	tier1	-	no_errors	ENST00000466801	ensembl	human	known	74_37	rna	10.87	37	5	SNP	1.000	G
PTPRF	5792	genome.wustl.edu	37	1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	rs377569778	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAGCAGCGGCGGCGGCGG	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15712	0.0		0.0	False		,,,				2504	0.0																0								G	GLN/ARG,GLN/ARG	1,4363		0,1,2181	41.0	52.0	48.0		3521,3494	2.1	1.0	1		48	1,8519		0,1,4259	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	43,43	0,2,6440	AA,AG,GG		0.0117,0.0229,0.0155	benign,benign	1174/1908,1165/1899	44071948	2,12882	2182	4260	6442	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3521G>A	1.37:g.44071948G>A	ENSP00000353030:p.Arg1174Gln		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R1174Q	ENST00000359947.4	37	c.3521	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.921439|2.921439	0.52653|0.52653	2.29E-4|2.29E-4	1.17E-4|1.17E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.56275	.|0.47;0.5;0.47;0.5;2.43;4.11	5.2|5.2	2.08|2.08	0.27032|0.27032	.|.	.|0.281004	.|0.18882	.|N	.|0.128559	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.44542|0.44542	1.39|1.39	0.45415|0.45415	D|D	0.998395|0.998395	.|P;B;B;D;D	.|0.56521	.|0.782;0.051;0.218;0.976;0.963	.|B;B;B;B;B	.|0.41619	.|0.203;0.014;0.063;0.32;0.361	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.15952	.|T	.|0.53	.|.	7.092|7.092	0.25289|0.25289	0.0705:0.1205:0.6755:0.1334|0.0705:0.1205:0.6755:0.1334	.|.	.|819;522;740;1165;1174	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|Q	820|1174;1165;1174;1165;522;235	.|ENSP00000353030:R1174Q;ENSP00000398822:R1165Q;ENSP00000361491:R1174Q;ENSP00000361490:R1165Q;ENSP00000387885:R522Q;ENSP00000361484:R235Q	.|ENSP00000353030:R1174Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43844535|43844535	0.983000|0.983000	0.35010|0.35010	0.985000|0.985000	0.45067|0.45067	0.858000|0.858000	0.48976|0.48976	0.421000|0.421000	0.21280|0.21280	0.684000|0.684000	0.31448|0.31448	0.561000|0.561000	0.74099|0.74099	GGC|CGG	PTPRF	-	NULL	ENSG00000142949		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0.00	103	0	G			44071948	+1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.889	A
PXDN	7837	genome.wustl.edu	37	2	1658253	1658253	+	Missense_Mutation	SNP	G	G	A	rs368643195		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:1658253G>A	ENST00000252804.4	-	15	1915	c.1865C>T	c.(1864-1866)cCg>cTg	p.P622L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	622					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCTACAAACGGATCTCCATT	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19287	0.0		0.0	False		,,,				2504	0.0																0								G	LEU/PRO	0,3910		0,0,1955	102.0	97.0	99.0		1865	5.4	0.8	2		99	1,8301		0,1,4150	no	missense	PXDN	NM_012293.1	98	0,1,6105	AA,AG,GG		0.012,0.0,0.0082	possibly-damaging	622/1480	1658253	1,12211	1955	4151	6106	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1865C>T	2.37:g.1658253G>A	ENSP00000252804:p.Pro622Leu		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.P622L	ENST00000252804.4	37	c.1865	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.75|13.75	2.330958|2.330958	0.41297|0.41297	0.0|0.0	1.2E-4|1.2E-4	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.61392|.	0.11|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.110671|.	0.64402|.	D|.	0.000006|.	T|T	0.56963|0.56963	0.2021|0.2021	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	P;P|.	0.43826|.	0.775;0.818|.	B;B|.	0.40256|.	0.324;0.279|.	T|T	0.51505|0.51505	-0.8697|-0.8697	10|5	0.34782|.	T|.	0.22|.	-36.3819|-36.3819	18.815|18.815	0.92073|0.92073	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	622;622|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	L|C	622|618	ENSP00000252804:P622L|.	ENSP00000252804:P622L|.	P|R	-|-	2|1	0|0	PXDN|PXDN	1637260|1637260	1.000000|1.000000	0.71417|0.71417	0.827000|0.827000	0.32855|0.32855	0.418000|0.418000	0.31294|0.31294	6.021000|6.021000	0.70832|0.70832	2.555000|2.555000	0.86185|0.86185	0.478000|0.478000	0.44815|0.44815	CCG|CGT	PXDN	-	NULL	ENSG00000130508		0.428	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0.00	50	0	G	XM_056455		1658253	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	36.84	24	14	SNP	0.996	A
PXDNL	137902	genome.wustl.edu	37	8	52320734	52320734	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:52320734G>C	ENST00000356297.4	-	17	3550	c.3450C>G	c.(3448-3450)atC>atG	p.I1150M	PXDNL_ENST00000543296.1_Missense_Mutation_p.I1150M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1150					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I349I(1)|p.I1150I(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATATGGTGGGATCCCGTGGT	0.448																																																	2	Substitution - coding silent(2)	prostate(2)											96.0	97.0	97.0					8																	52320734		1854	4106	5960	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3450C>G	8.37:g.52320734G>C	ENSP00000348645:p.Ile1150Met		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.I1150M	ENST00000356297.4	37	c.3450	CCDS47855.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.180|4.180	0.032082|0.032082	0.08101|0.08101	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.70399|.	-0.48;-0.48|.	3.82|3.82	-0.651|-0.651	0.11454|0.11454	.|.	0.239917|.	0.28688|.	N|.	0.014461|.	T|T	0.44644|0.44644	0.1303|0.1303	M|M	0.75150|0.75150	2.29|2.29	0.27340|0.27340	N|N	0.956529|0.956529	P|.	0.46142|.	0.873|.	P|.	0.45712|.	0.491|.	T|T	0.43653|0.43653	-0.9378|-0.9378	10|5	0.40728|.	T|.	0.16|.	.|.	3.8635|3.8635	0.09005|0.09005	0.2003:0.0:0.3378:0.4618|0.2003:0.0:0.3378:0.4618	.|.	1150|.	A1KZ92|.	PXDNL_HUMAN|.	M|C	1150|269	ENSP00000348645:I1150M;ENSP00000444865:I1150M|.	ENSP00000348645:I1150M|.	I|S	-|-	3|2	3|0	PXDNL|PXDNL	52483287|52483287	0.115000|0.115000	0.22152|0.22152	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.805000|-0.805000	0.04530|0.04530	-0.218000|-0.218000	0.10018|0.10018	-0.136000|-0.136000	0.14681|0.14681	ATC|TCC	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0.00	46	0	G	NM_144651		52320734	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	48.84	22	21	SNP	0.978	C
RABGAP1	23637	genome.wustl.edu	37	9	125827753	125827753	+	Intron	DEL	A	A	-	rs3214358		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:125827753delA	ENST00000373647.4	+	14	2042				RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATTTCATGTCAAAAAAAAAAA	0.343																																																	0													36.0	38.0	37.0					9																	125827753		2203	4300	6503	SO:0001627	intron_variant	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1908+13A>-	9.37:g.125827753delA			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Frame_Shift_Del	DEL	pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.K576fs	ENST00000373647.4	37	c.1717	CCDS6848.2	9																																																																																			RABGAP1	-	pfscan_Rab-GTPase-TBC_dom	ENSG00000011454		0.343	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3		0.00	35	0	A	NM_012197		125827753	+1	tier1		no_errors	ENST00000456584	ensembl	human	known	74_37	frame_shift_del	18.18	27	6	DEL	0.000	-
RASGRP4	115727	genome.wustl.edu	37	19	38901801	38901801	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:38901801G>A	ENST00000587738.1	-	15	1876	c.1806C>T	c.(1804-1806)ccC>ccT	p.P602P	RASGRP4_ENST00000426920.2_Silent_p.P413P|RASGRP4_ENST00000586305.1_Silent_p.P588P|RASGRP4_ENST00000293062.9_Silent_p.P505P|RASGRP4_ENST00000433821.2_Silent_p.P510P|RASGRP4_ENST00000587753.1_Silent_p.P533P|RASGRP4_ENST00000454404.2_Silent_p.P568P			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	602					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGCTCCGGGGGGTCCTGCAT	0.627																																																	0													65.0	72.0	70.0					19																	38901801		2016	4176	6192	SO:0001819	synonymous_variant	0			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1806C>T	19.37:g.38901801G>A			A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.P602	ENST00000587738.1	37	c.1806	CCDS46068.1	19																																																																																			RASGRP4	-	NULL	ENSG00000171777		0.627	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	-	0.00	45	0	G	NM_170604		38901801	-1	tier1	-	no_errors	ENST00000587738	ensembl	human	known	74_37	silent	18.18	54	12	SNP	0.613	A
RBAK	57786	genome.wustl.edu	37	7	5103739	5103739	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:5103739G>A	ENST00000353796.3	+	6	976	c.652G>A	c.(652-654)Gct>Act	p.A218T	RBAK_ENST00000396912.1_Missense_Mutation_p.A218T|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	218	Required for interaction with RB1.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGACAATGAGGCTGTTTTTAT	0.353																																																	0													42.0	45.0	44.0					7																	5103739		2203	4299	6502	SO:0001583	missense	0			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.652G>A	7.37:g.5103739G>A	ENSP00000275423:p.Ala218Thr		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	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.A218T	ENST00000353796.3	37	c.652	CCDS5337.1	7	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.557658	0.00910	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.01629	4.72;4.72	3.53	-3.23	0.05109	.	1.106060	0.06891	N	0.804220	T	0.00936	0.0031	N	0.11845	0.185	0.25555	N	0.987043	B	0.30793	0.295	B	0.26310	0.068	T	0.46803	-0.9165	8	.	.	.	.	0.4621	0.00518	0.3848:0.1359:0.2038:0.2755	.	218	Q9NYW8	RBAK_HUMAN	T	218	ENSP00000275423:A218T;ENSP00000380120:A218T	.	A	+	1	0	RBAK	5070265	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-0.981000	0.03766	-0.781000	0.04548	-0.350000	0.07774	GCT	RBAK	-	NULL	ENSG00000146587		0.353	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	-	0.00	23	0	G	NM_021163		5103739	+1	tier1	-	no_errors	ENST00000353796	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.000	A
RELL1	768211	genome.wustl.edu	37	4	37640083	37640083	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:37640083C>T	ENST00000454158.2	-	4	517	c.429G>A	c.(427-429)ctG>ctA	p.L143L	RELL1_ENST00000314117.4_Silent_p.L143L	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	143						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						CAGGATCATACAGGCTGTTAT	0.383																																																	0													125.0	126.0	126.0					4																	37640083		1913	4127	6040	SO:0001819	synonymous_variant	0			AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.429G>A	4.37:g.37640083C>T			Q8NBK1	Silent	SNP	pfam_TNF_rcpt_RELT	p.L143	ENST00000454158.2	37	c.429	CCDS43221.1	4																																																																																			RELL1	-	NULL	ENSG00000181826		0.383	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RELL1	HGNC	protein_coding	OTTHUMT00000360485.1		0.00	52	0	C	NM_001085400		37640083	-1			no_errors	ENST00000314117	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.013	T
RIMS1	22999	genome.wustl.edu	37	6	73108708	73108708	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:73108708A>G	ENST00000521978.1	+	33	4772	c.4772A>G	c.(4771-4773)aAg>aGg	p.K1591R	RIMS1_ENST00000414192.2_Missense_Mutation_p.K118R|RIMS1_ENST00000538414.1_Missense_Mutation_p.K397R|RIMS1_ENST00000348717.5_Missense_Mutation_p.K1374R|RIMS1_ENST00000523963.1_Missense_Mutation_p.K716R|RIMS1_ENST00000264839.7_Missense_Mutation_p.K1440R|RIMS1_ENST00000517960.1_Missense_Mutation_p.K1374R|RIMS1_ENST00000517827.1_Missense_Mutation_p.K725R|RIMS1_ENST00000491071.2_Missense_Mutation_p.K1380R|RIMS1_ENST00000401910.3_Missense_Mutation_p.K911R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000522291.1_Missense_Mutation_p.K1190R|RIMS1_ENST00000518273.1_Missense_Mutation_p.K1270R|RIMS1_ENST00000520567.1_Missense_Mutation_p.K1241R|RIMS1_ENST00000425662.2_Missense_Mutation_p.K659R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1591	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATAGCCAAGAAGAAGACAAGA	0.348																																																	0													110.0	106.0	108.0					6																	73108708		1824	4085	5909	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4772A>G	6.37:g.73108708A>G	ENSP00000428417:p.Lys1591Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.K1591R	ENST00000521978.1	37	c.4772	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.191708|4.191708	0.78902|0.78902	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000522211	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.69926|.	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44|.	5.37|5.37	5.37|5.37	0.77165|0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.58395|0.58395	0.2119|0.2119	L|L	0.49571|0.49571	1.57|1.57	0.58432|0.58432	D|D	0.999993|0.999993	B;B;B;B;P;D;D;B;B;D;P;D;D|.	0.76494|.	0.246;0.011;0.136;0.052;0.939;0.999;0.976;0.119;0.198;0.976;0.928;0.997;0.971|.	B;B;B;B;P;D;P;B;B;P;D;D;D|.	0.87578|.	0.135;0.11;0.085;0.122;0.836;0.998;0.849;0.042;0.022;0.894;0.932;0.98;0.953|.	T|T	0.58098|0.58098	-0.7696|-0.7696	10|5	0.12430|.	T|.	0.62|.	-30.9307|-30.9307	15.6586|15.6586	0.77162|0.77162	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	215;397;725;716;1440;911;1190;494;1270;1374;667;1380;1591|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	R|G	1380;1440;1380;1374;1270;1190;1440;1374;1270;1241;1190;1591;911;716;659;725;639;397;118|509	ENSP00000430101:K1380R;ENSP00000275037:K1374R;ENSP00000264839:K1440R;ENSP00000429959:K1374R;ENSP00000430408:K1270R;ENSP00000430502:K1241R;ENSP00000430932:K1190R;ENSP00000428417:K1591R;ENSP00000385649:K911R;ENSP00000428328:K716R;ENSP00000411235:K659R;ENSP00000428367:K725R;ENSP00000359448:K639R;ENSP00000439730:K397R;ENSP00000402273:K118R|.	ENSP00000264839:K1440R|.	K|R	+|+	2|1	0|2	RIMS1|RIMS1	73165429|73165429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	9.212000|9.212000	0.95126|0.95126	2.157000|2.157000	0.67596|0.67596	0.482000|0.482000	0.46254|0.46254	AAG|AGA	RIMS1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000079841		0.348	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	52	0	A			73108708	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	G
RFX6	222546	genome.wustl.edu	37	6	117246753	117246753	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:117246753C>A	ENST00000332958.2	+	16	1832	c.1816C>A	c.(1816-1818)Caa>Aaa	p.Q606K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	606					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCATCCAGTCAACCTGGAGG	0.547																																																	0													90.0	82.0	85.0					6																	117246753		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1816C>A	6.37:g.117246753C>A	ENSP00000332208:p.Gln606Lys		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.Q606K	ENST00000332958.2	37	c.1816	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676334	0.47886	.	.	ENSG00000185002	ENST00000332958	T	0.56103	0.48	5.95	5.95	0.96441	.	0.110120	0.64402	D	0.000005	T	0.41396	0.1157	M	0.62723	1.935	0.80722	D	1	B	0.28713	0.22	B	0.21151	0.033	T	0.30179	-0.9987	10	0.39692	T	0.17	-0.3931	20.3719	0.98893	0.0:1.0:0.0:0.0	.	606	Q8HWS3	RFX6_HUMAN	K	606	ENSP00000332208:Q606K	ENSP00000332208:Q606K	Q	+	1	0	RFX6	117353446	1.000000	0.71417	0.872000	0.34217	0.052000	0.14988	7.067000	0.76741	2.826000	0.97356	0.491000	0.48974	CAA	RFX6	-	NULL	ENSG00000185002		0.547	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	-	0.00	29	0	C	NM_173560		117246753	+1	tier1	-	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.996	A
CTC-457E21.6	0	genome.wustl.edu	37	19	22784508	22784509	+	RNA	INS	-	-	A	rs34342142|rs79972208		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:22784508_22784509insA	ENST00000599738.1	+	0	0				RN7SL860P_ENST00000473738.2_RNA|CTC-457E21.3_ENST00000600260.1_RNA|AC011467.1_ENST00000408863.1_RNA																							ctttggttctcaaaaaaaaaat	0.51																																																	0																																												0																															19.37:g.22784518_22784518dupA				RNA	INS	-	NULL	ENST00000599738.1	37	NULL		19																																																																																			RN7SL860P	-	-	ENSG00000240713		0.510	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	RN7SL860P	HGNC	processed_transcript	OTTHUMT00000464575.1		0.00	21	0	-			22784509	+1	tier1		no_errors	ENST00000473738	ensembl	human	known	74_37	rna	18.75	13	3	INS	0.037:0.037	A
RNF168	165918	genome.wustl.edu	37	3	196199341	196199341	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:196199341G>A	ENST00000318037.3	-	6	1659	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	355					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATGTGGGGGCGCACCCACTTT	0.463																																																	0													158.0	158.0	158.0					3																	196199341		2203	4300	6503	SO:0001819	synonymous_variant	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1065C>T	3.37:g.196199341G>A			Q8NA67|Q96NS4	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.C355	ENST00000318037.3	37	c.1065	CCDS3317.1	3																																																																																			RNF168	-	NULL	ENSG00000163961		0.463	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	-	0.00	45	0	G	NM_152617		196199341	-1	tier1	-	no_errors	ENST00000318037	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.000	A
RPS6KA6	27330	genome.wustl.edu	37	X	83362682	83362682	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:83362682G>A	ENST00000262752.2	-	13	1067	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P354S|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	354	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GTATCATCTGGTTTTCCAGAA	0.299																																																	0													53.0	50.0	51.0					X																	83362682		2203	4293	6496	SO:0001583	missense	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1060C>T	X.37:g.83362682G>A	ENSP00000262752:p.Pro354Ser		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.P354S	ENST00000262752.2	37	c.1060	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888740	0.52014	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.58652	0.32;0.32	4.11	4.11	0.48088	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.057413	0.64402	D	0.000001	T	0.50667	0.1629	L	0.41415	1.275	0.80722	D	1	B;B	0.21071	0.013;0.051	B;B	0.22152	0.038;0.038	T	0.51702	-0.8672	10	0.48119	T	0.1	.	15.9801	0.80102	0.0:0.0:1.0:0.0	.	354;354	B7ZL90;Q9UK32	.;KS6A6_HUMAN	S	354	ENSP00000262752:P354S;ENSP00000440830:P354S	ENSP00000262752:P354S	P	-	1	0	RPS6KA6	83249338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.129000	0.94430	1.759000	0.51996	0.600000	0.82982	CCA	RPS6KA6	-	pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II	ENSG00000072133		0.299	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	-	0.00	73	0	G	NM_014496		83362682	-1	tier1	-	no_errors	ENST00000262752	ensembl	human	known	74_37	missense	60.87	45	70	SNP	1.000	A
RUFY2	55680	genome.wustl.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																																	0													81.0	80.0	81.0					10																	70156583		1832	4087	5919	SO:0001589	frameshift_variant	0			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel	p.M153fs	ENST00000602465.1	37	c.457		10																																																																																			RUFY2	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000204130		0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	RUFY2	HGNC	protein_coding	OTTHUMT00000467567.1		0.00	27	0	T	NM_017987		70156583	-1	tier1		no_errors	ENST00000388768	ensembl	human	known	74_37	frame_shift_del	11.76	30	4	DEL	0.996	-
RYR3	6263	genome.wustl.edu	37	15	33927904	33927904	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:33927904T>C	ENST00000389232.4	+	26	3335	c.3265T>C	c.(3265-3267)Ttt>Ctt	p.F1089L	RYR3_ENST00000415757.3_Missense_Mutation_p.F1089L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1089	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAGTGGTATTTTGAGTTTGA	0.532																																																	0													76.0	77.0	77.0					15																	33927904		2048	4217	6265	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3265T>C	15.37:g.33927904T>C	ENSP00000373884:p.Phe1089Leu		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.F1089L	ENST00000389232.4	37	c.3265	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	33	5.236911	0.95240	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.75938	-0.98;-0.98	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	M	0.90198	3.095	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.76071	0.979;0.987	D	0.88342	0.2975	10	0.35671	T	0.21	.	15.4479	0.75248	0.0:0.0:0.0:1.0	.	1089;1089	Q15413-2;Q15413	.;RYR3_HUMAN	L	1089	ENSP00000373884:F1089L;ENSP00000399610:F1089L	ENSP00000354735:F1089L	F	+	1	0	RYR3	31715196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.774000	0.85478	2.228000	0.72767	0.533000	0.62120	TTT	RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198838		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	45	0	T			33927904	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C
SEC31B	25956	genome.wustl.edu	37	10	102250010	102250010	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:102250010G>A	ENST00000370345.3	-	21	2817	c.2720C>T	c.(2719-2721)aCa>aTa	p.T907I		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	907	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGAGGCCATGTCCCAGGGAA	0.547																																																	0													93.0	79.0	84.0					10																	102250010		2203	4300	6503	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2720C>T	10.37:g.102250010G>A	ENSP00000359370:p.Thr907Ile		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T907I	ENST00000370345.3	37	c.2720	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633781	0.29068	.	.	ENSG00000075826	ENST00000370345	T	0.52057	0.68	5.75	-0.237	0.13061	.	1.261230	0.04854	N	0.442813	T	0.40619	0.1124	M	0.64997	1.995	0.09310	N	1	B;B	0.32573	0.376;0.126	B;B	0.29785	0.107;0.021	T	0.21655	-1.0239	10	0.23302	T	0.38	0.6224	4.6518	0.12598	0.2776:0.3186:0.4038:0.0	.	906;907	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	I	907	ENSP00000359370:T907I	ENSP00000359370:T907I	T	-	2	0	SEC31B	102240000	0.001000	0.12720	0.368000	0.25939	0.783000	0.44284	0.184000	0.16939	0.263000	0.21812	0.561000	0.74099	ACA	SEC31B	-	NULL	ENSG00000075826		0.547	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1		0.00	31	0	G	NM_015490		102250010	-1			no_errors	ENST00000370345	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.002	A
SFRP4	6424	genome.wustl.edu	37	7	37956032	37956032	+	Silent	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:37956032G>T	ENST00000436072.2	-	1	485	c.108C>A	c.(106-108)ccC>ccA	p.P36P	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	36	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGATGTTCCAGGGCATGTGCC	0.667																																																	0													130.0	105.0	113.0					7																	37956032		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.108C>A	7.37:g.37956032G>T			B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.P36	ENST00000436072.2	37	c.108	CCDS5453.1	7																																																																																			SFRP4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000106483		0.667	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	-	0.00	43	0	G	NM_003014		37956032	-1	tier1	-	no_errors	ENST00000436072	ensembl	human	known	74_37	silent	9.09	50	5	SNP	1.000	T
SH3RF3	344558	genome.wustl.edu	37	2	110065908	110065908	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:110065908A>C	ENST00000309415.6	+	8	2111	c.2111A>C	c.(2110-2112)aAc>aCc	p.N704T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	704							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCCCCACCAACACGGGATGC	0.582																																																	0													38.0	42.0	40.0					2																	110065908		1985	4156	6141	SO:0001583	missense	0			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2111A>C	2.37:g.110065908A>C	ENSP00000309186:p.Asn704Thr		A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain,pfscan_Znf_RING	p.N704T	ENST00000309415.6	37	c.2111		2	.	.	.	.	.	.	.	.	.	.	A	1.227	-0.625288	0.03610	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.57107	0.42;2.24	4.9	-0.355	0.12587	.	0.804040	0.12126	N	0.497211	T	0.33876	0.0878	.	.	.	0.20074	N	0.999935	B	0.20780	0.048	B	0.15052	0.012	T	0.18618	-1.0331	9	0.21540	T	0.41	-16.524	10.1567	0.42827	0.5866:0.0:0.4134:0.0	.	704	Q8TEJ3	SH3R3_HUMAN	T	704	ENSP00000414997:N704T;ENSP00000309186:N704T	ENSP00000309186:N704T	N	+	2	0	SH3RF3	109432340	0.522000	0.26266	0.037000	0.18230	0.170000	0.22686	0.370000	0.20433	-0.199000	0.10317	0.533000	0.62120	AAC	SH3RF3	-	NULL	ENSG00000172985		0.582	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	SH3RF3	HGNC	protein_coding		-	0.00	72	0	A	NM_001099289		110065908	+1	tier1	-	no_errors	ENST00000309415	ensembl	human	known	74_37	missense	42.50	46	34	SNP	0.073	C
SI	6476	genome.wustl.edu	37	3	164758861	164758862	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:164758861_164758862insA	ENST00000264382.3	-	18	2087_2088	c.2025_2026insT	c.(2023-2028)tttgggfs	p.G676fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	676	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GAATTCTGCCCAAAAAATGCAG	0.332										HNSCC(35;0.089)																																							0																																										SO:0001589	frameshift_variant	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2026dupT	3.37:g.164758867_164758867dupA	ENSP00000264382:p.Gly676fs		A2RUC3|Q1JQ80|Q1RMC2	Frame_Shift_Ins	INS	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G675fs	ENST00000264382.3	37	c.2026_2025	CCDS3196.1	3																																																																																			SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.332	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1		0.00	27	0	-	NM_001041		164758862	-1	tier1		no_errors	ENST00000264382	ensembl	human	known	74_37	frame_shift_ins	17.86	23	5	INS	1.000:1.000	A
SLAIN2	57606	genome.wustl.edu	37	4	48422217	48422217	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:48422217G>A	ENST00000264313.6	+	7	1854	c.1436G>A	c.(1435-1437)aGt>aAt	p.S479N	SLAIN2_ENST00000512093.1_Missense_Mutation_p.S312N	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	479					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AAAGCATTTAGTAACCATGGC	0.507																																																	0													104.0	101.0	102.0					4																	48422217		1993	4167	6160	SO:0001583	missense	0			BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1436G>A	4.37:g.48422217G>A	ENSP00000264313:p.Ser479Asn		A8K4P1|Q8N5R3	Missense_Mutation	SNP	NULL	p.S479N	ENST00000264313.6	37	c.1436	CCDS47051.1	4	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277884	0.23307	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.02	4.17	0.49024	.	0.340549	0.33670	N	0.004664	T	0.46425	0.1392	L	0.40543	1.245	0.40890	D	0.98406	B	0.09022	0.002	B	0.09377	0.004	T	0.50432	-0.8829	9	0.66056	D	0.02	-3.8192	9.4654	0.38809	0.0774:0.1411:0.7815:0.0	.	479	Q9P270	SLAI2_HUMAN	N	479;312	.	ENSP00000264313:S479N	S	+	2	0	SLAIN2	48116974	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	3.337000	0.52120	2.346000	0.79739	0.557000	0.71058	AGT	SLAIN2	-	NULL	ENSG00000109171		0.507	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAIN2	HGNC	protein_coding	OTTHUMT00000365807.4	-	0.00	94	0	G	NM_020846		48422217	+1	tier1	-	no_errors	ENST00000264313	ensembl	human	known	74_37	missense	6.82	82	6	SNP	1.000	A
SLC16A9	220963	genome.wustl.edu	37	10	61444055	61444055	+	5'UTR	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:61444055G>A	ENST00000395348.3	-	0	631				SLC16A9_ENST00000395347.1_5'UTR|SLC16A9_ENST00000490066.1_5'UTR	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9						urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TCCATTGTAAGACAAAATCAG	0.443																																																	0													90.0	84.0	86.0					10																	61444055		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.-6C>T	10.37:g.61444055G>A			Q6ZMI2|Q9UFH8	RNA	SNP	-	NULL	ENST00000395348.3	37	NULL	CCDS7256.1	10																																																																																			SLC16A9	-	-	ENSG00000165449		0.443	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	HGNC	protein_coding	OTTHUMT00000048174.2	-	0.00	66	0	G	NM_194298		61444055	-1	tier1	-	no_errors	ENST00000490066	ensembl	human	known	74_37	rna	30.61	34	15	SNP	0.001	A
SLC25A6	293	genome.wustl.edu	37	X	1508156	1508156	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:1508156G>A	ENST00000381401.5	-	2	1290	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	192					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CGTACACGCCGAAGTAGGCCG	0.622													g|||	0	0.0	0.0	0.0	5008	,	,		17555	0.0		0.0	False		,,,				2504	0.0																0													91.0	88.0	89.0					X																	1508156		2203	4296	6499	SO:0001819	synonymous_variant	0			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.576C>T	X.37:g.1508156G>A			Q96C49	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.F192	ENST00000381401.5	37	c.576	CCDS14114.1	X																																																																																			SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000169100		0.622	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	-	0.00	78	0	G	NM_001636		1508156	-1	tier1	-	no_errors	ENST00000381401	ensembl	human	known	74_37	silent	48.68	39	37	SNP	1.000	A
SLC27A6	28965	genome.wustl.edu	37	5	128324368	128324368	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:128324368C>T	ENST00000262462.4	+	3	1771	c.761C>T	c.(760-762)aCt>aTt	p.T254I	SLC27A6_ENST00000506176.1_Missense_Mutation_p.T254I|SLC27A6_ENST00000395266.1_Missense_Mutation_p.T254I			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	254					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTGGTTGTACTGCTCATGAC	0.423																																																	0													246.0	240.0	242.0					5																	128324368		2203	4300	6503	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.761C>T	5.37:g.128324368C>T	ENSP00000262462:p.Thr254Ile		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T254I	ENST00000262462.4	37	c.761	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137705	0.56936	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.53423	2.69;0.62;0.62;0.62	4.18	4.18	0.49190	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.78456	2.415	0.47584	D	0.999468	P	0.43701	0.815	P	0.46419	0.516	T	0.62978	-0.6739	9	.	.	.	-5.272	17.8288	0.88674	0.0:1.0:0.0:0.0	.	254	Q9Y2P4	S27A6_HUMAN	I	73;254;254;254	ENSP00000421759:T73I;ENSP00000262462:T254I;ENSP00000378684:T254I;ENSP00000421024:T254I	.	T	+	2	0	SLC27A6	128352267	0.970000	0.33590	0.579000	0.28588	0.968000	0.65278	2.483000	0.45233	2.640000	0.89533	0.655000	0.94253	ACT	SLC27A6	-	pfam_AMP-dep_Synth/Lig	ENSG00000113396		0.423	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1		0.00	84	0	C	NM_014031		128324368	+1			no_errors	ENST00000262462	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.856	T
SLC4A10	57282	genome.wustl.edu	37	2	162757512	162757512	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:162757512G>T	ENST00000446997.1	+	12	1526	c.1433G>T	c.(1432-1434)cGa>cTa	p.R478L	SLC4A10_ENST00000375514.5_Missense_Mutation_p.R459L|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R478L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R448L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R448L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	478					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.R448Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GAACTCCAGCGAACTGGAAGG	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)											47.0	53.0	51.0					2																	162757512		1935	4123	6058	SO:0001583	missense	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1433G>T	2.37:g.162757512G>T	ENSP00000393066:p.Arg478Leu		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R478L	ENST00000446997.1	37	c.1433	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558138	0.86231	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.27	5.27	0.74061	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.988;0.979	D;D;D;P	0.68621	0.951;0.959;0.951;0.869	D	0.93704	0.7018	10	0.87932	D	0	.	19.2477	0.93909	0.0:0.0:1.0:0.0	.	459;478;448;478	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	L	459;448;448;447;478;478;477	ENSP00000364664:R459L;ENSP00000395797:R448L;ENSP00000272716:R448L;ENSP00000393066:R478L;ENSP00000404486:R478L	ENSP00000272716:R448L	R	+	2	0	SLC4A10	162465758	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.628000	0.89032	0.655000	0.94253	CGA	SLC4A10	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000144290		0.453	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1		0.00	44	0	G	NM_022058		162757512	+1			no_errors	ENST00000446997	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T
SLC6A5	9152	genome.wustl.edu	37	11	20652269	20652269	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:20652269C>A	ENST00000525748.1	+	10	1805	c.1532C>A	c.(1531-1533)gCc>gAc	p.A511D	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	511					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACCAACAGTGCCACAAGCATC	0.502																																																	0													229.0	194.0	206.0					11																	20652269		2203	4300	6503	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1532C>A	11.37:g.20652269C>A	ENSP00000434364:p.Ala511Asp		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A511D	ENST00000525748.1	37	c.1532	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312638	0.81358	.	.	ENSG00000165970	ENST00000525748	T	0.75367	-0.93	5.57	5.57	0.84162	.	0.206198	0.50627	D	0.000104	D	0.87501	0.6193	M	0.87971	2.92	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.89127	0.3507	10	0.72032	D	0.01	.	19.54	0.95270	0.0:1.0:0.0:0.0	.	511	Q9Y345	SC6A5_HUMAN	D	511	ENSP00000434364:A511D	ENSP00000434364:A511D	A	+	2	0	SLC6A5	20608845	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.951000	0.56684	2.618000	0.88619	0.655000	0.94253	GCC	SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000165970		0.502	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	-	0.00	45	0	C	NM_004211		20652269	+1	tier1	-	no_errors	ENST00000525748	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A
SLIT2	9353	genome.wustl.edu	37	4	20544250	20544250	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:20544250G>T	ENST00000504154.1	+	21	2528		c.e21+1		SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCACAGAGTTGTAAGTAGAGC	0.383																																																	0													225.0	221.0	222.0					4																	20544250		2203	4300	6503	SO:0001630	splice_region_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2276+1G>T	4.37:g.20544250G>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	-	e21+1	ENST00000504154.1	37	c.2276+1	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106434	0.77096	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20153348	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	.	SLIT2	-	-	ENSG00000145147		0.383	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0.00	45	0	G		Intron	20544250	+1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	splice_site	39.02	25	16	SNP	1.000	T
SMC5	23137	genome.wustl.edu	37	9	72962954	72962954	+	Splice_Site	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:72962954G>A	ENST00000361138.5	+	22	2947	c.2889G>A	c.(2887-2889)gaG>gaA	p.E963E	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	963					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CAGAAAATGAGGTAAAATTGC	0.249																																																	0													21.0	22.0	22.0					9																	72962954		2122	4270	6392	SO:0001630	splice_region_variant	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2889+1G>A	9.37:g.72962954G>A			A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	p.E963	ENST00000361138.5	37	c.2889	CCDS6632.1	9																																																																																			SMC5	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000198887		0.249	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	-	0.00	65	0	G	NM_015110	Silent	72962954	+1	tier1	-	no_errors	ENST00000361138	ensembl	human	known	74_37	silent	28.85	37	15	SNP	1.000	A
SMCHD1	23347	genome.wustl.edu	37	18	2728706	2728706	+	Intron	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr18:2728706C>T	ENST00000320876.6	+	23	3251				SMCHD1_ENST00000261598.8_Intron|RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000609587.1_3'UTR	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1						chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AACGATTATTCCGTGGAAGGA	0.343																																																	0																																										SO:0001627	intron_variant	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2913+112C>T	18.37:g.2728706C>T			O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	RNA	SNP	-	NULL	ENST00000320876.6	37	NULL	CCDS45822.1	18																																																																																			SMCHD1	-	-	ENSG00000101596		0.343	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	-	0.00	10	0	C			2728706	+1	tier1	-	no_errors	ENST00000609587	ensembl	human	known	74_37	rna	38.89	11	7	SNP	0.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25315620	25315620	+	RNA	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:25315620G>A	ENST00000549804.2	+	0	678				SNORD116-9_ENST00000384000.1_RNA|SNORD116-8_ENST00000384365.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CCTTGGAAAAGCTGAACAAAA	0.493																																																	0													189.0	168.0	175.0					15																	25315620		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25315620G>A				RNA	SNP	-	NULL	ENST00000549804.2	37	NULL		15																																																																																			SNORD116-8	-	-	ENSG00000207093		0.493	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	SNORD116-8	HGNC	processed_transcript	OTTHUMT00000408278.2	-	0.00	146	0	G			25315620	+1	tier1	-	no_errors	ENST00000384365	ensembl	human	known	74_37	rna	17.17	82	17	SNP	0.999	A
SNRNP40	9410	genome.wustl.edu	37	1	31766005	31766006	+	Intron	INS	-	-	A	rs112391814		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:31766005_31766006insA	ENST00000263694.4	-	2	290				SNRNP40_ENST00000446633.2_Intron	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ACCCAAGATTTAAAAAAAAAAA	0.401																																																	0																																										SO:0001627	intron_variant	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.271+59->T	1.37:g.31766016_31766016dupA			B4DQJ1|O75938|O95320	RNA	INS	-	NULL	ENST00000263694.4	37	NULL	CCDS340.1	1																																																																																			SNRNP40	-	-	ENSG00000060688		0.401	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1		0.00	21	0	-	NM_004814		31766006	-1	tier1		no_errors	ENST00000463988	ensembl	human	known	74_37	rna	18.18	18	4	INS	0.441:0.422	A
SNX19	399979	genome.wustl.edu	37	11	130785517	130785517	+	Silent	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:130785517G>T	ENST00000265909.4	-	1	887	c.318C>A	c.(316-318)atC>atA	p.I106I	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.I106I	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	106	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TAATCATCTGGATGGTGCGGT	0.542																																																	0													86.0	61.0	69.0					11																	130785517		2201	4297	6498	SO:0001819	synonymous_variant	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.318C>A	11.37:g.130785517G>T			E9PKB9|Q8IV55	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.I106	ENST00000265909.4	37	c.318	CCDS31721.1	11																																																																																			SNX19	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc	ENSG00000120451		0.542	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	-	0.00	58	0	G	NM_014758		130785517	-1	tier1	-	no_errors	ENST00000265909	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T
SORCS3	22986	genome.wustl.edu	37	10	106982918	106982918	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:106982918A>T	ENST00000369701.3	+	20	3006	c.2779A>T	c.(2779-2781)Aga>Tga	p.R927*	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	927					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGTTGCCATAAGAAATAAGGA	0.448																																					NSCLC(116;1497 1690 7108 13108 14106)												0													167.0	159.0	162.0					10																	106982918		2203	4300	6503	SO:0001587	stop_gained	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2779A>T	10.37:g.106982918A>T	ENSP00000358715:p.Arg927*		Q5VXF9|Q9NQJ2	Nonsense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.R927*	ENST00000369701.3	37	c.2779	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	A	43	9.866726	0.99283	.	.	ENSG00000156395	ENST00000369701	.	.	.	5.06	2.47	0.30058	.	0.162163	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8121	0.52189	0.7241:0.2759:0.0:0.0	.	.	.	.	X	927	.	.	R	+	1	2	SORCS3	106972908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.525000	0.67110	0.841000	0.35020	0.460000	0.39030	AGA	SORCS3	-	superfamily_PKD_dom	ENSG00000156395		0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1		0.00	57	0	A	NM_014978		106982918	+1			no_errors	ENST00000369701	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	1.000	T
SORL1	6653	genome.wustl.edu	37	11	121476267	121476267	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:121476267G>A	ENST00000260197.7	+	35	5064	c.4935G>A	c.(4933-4935)agG>agA	p.R1645R	SORL1_ENST00000527934.1_Silent_p.R260R|SORL1_ENST00000525532.1_Silent_p.R589R|SORL1_ENST00000534286.1_Silent_p.R555R|SORL1_ENST00000532694.1_Silent_p.R491R	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1645	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGACCCTGAGGACCCCAGAGG	0.448																																																	0													173.0	162.0	165.0					11																	121476267		2203	4299	6502	SO:0001819	synonymous_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4935G>A	11.37:g.121476267G>A			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R1645	ENST00000260197.7	37	c.4935	CCDS8436.1	11																																																																																			SORL1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000137642		0.448	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0.00	55	0	G	NM_003105		121476267	+1	tier1	-	no_errors	ENST00000260197	ensembl	human	known	74_37	silent	52.17	22	24	SNP	1.000	A
SOX3	6658	genome.wustl.edu	37	X	139587001	139587001	+	Silent	SNP	T	T	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:139587001T>A	ENST00000370536.2	-	1	224	c.225A>T	c.(223-225)gcA>gcT	p.A75A		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	75					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGCTGTACATTGCCGGGGCGG	0.706																																																	0													8.0	8.0	8.0					X																	139587001		2135	4139	6274	SO:0001819	synonymous_variant	0				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.225A>T	X.37:g.139587001T>A			P35714|Q5JWI3|Q9NP49	Silent	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A75	ENST00000370536.2	37	c.225	CCDS14669.1	X																																																																																			SOX3	-	NULL	ENSG00000134595		0.706	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	HGNC	protein_coding	OTTHUMT00000058577.1	-	0.00	25	0	T			139587001	-1	tier1	-	no_errors	ENST00000370536	ensembl	human	known	74_37	silent	70.00	9	21	SNP	1.000	A
SPTA1	6708	genome.wustl.edu	37	1	158631199	158631199	+	Splice_Site	SNP	C	C	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:158631199C>G	ENST00000368147.4	-	18	2645	c.2465G>C	c.(2464-2466)gGa>gCa	p.G822A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	822					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGGTCCTTTCCTGCAGAGGA	0.428																																																	0													116.0	108.0	111.0					1																	158631199		1857	4102	5959	SO:0001630	splice_region_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2465-1G>C	1.37:g.158631199C>G			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.G822A	ENST00000368147.4	37	c.2465	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205326	0.58234	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39406	1.08;1.08	4.93	4.93	0.64822	.	.	.	.	.	T	0.69061	0.3069	M	0.93978	3.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76887	-0.2793	9	0.56958	D	0.05	.	16.8857	0.86075	0.0:1.0:0.0:0.0	.	822	P02549	SPTA1_HUMAN	A	822	ENSP00000357130:G822A;ENSP00000357129:G822A	ENSP00000357129:G822A	G	-	2	0	SPTA1	156897823	1.000000	0.71417	0.879000	0.34478	0.143000	0.21401	6.420000	0.73349	2.545000	0.85829	0.650000	0.86243	GGA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	64	0	C	NM_003126	Missense_Mutation	158631199	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	14.81	69	12	SNP	1.000	G
SPTA1	6708	genome.wustl.edu	37	1	158645985	158645985	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:158645985T>C	ENST00000368147.4	-	8	1238	c.1058A>G	c.(1057-1059)gAg>gGg	p.E353G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	353					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACGAATATGCTCCCAGCTGGA	0.493																																																	0													170.0	161.0	164.0					1																	158645985		1916	4132	6048	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1058A>G	1.37:g.158645985T>C	ENSP00000357129:p.Glu353Gly		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E353G	ENST00000368147.4	37	c.1058	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.664201	0.29604	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37584	1.19;1.19	4.95	-2.22	0.06952	.	0.256213	0.20348	N	0.094117	T	0.13114	0.0318	L	0.60957	1.885	0.22330	N	0.999192	B	0.12013	0.005	B	0.17979	0.02	T	0.33214	-0.9877	10	0.51188	T	0.08	.	7.3017	0.26424	0.0:0.1456:0.3493:0.5052	.	353	P02549	SPTA1_HUMAN	G	353	ENSP00000357130:E353G;ENSP00000357129:E353G	ENSP00000357129:E353G	E	-	2	0	SPTA1	156912609	0.986000	0.35501	0.003000	0.11579	0.522000	0.34438	2.601000	0.46249	-0.210000	0.10140	-0.250000	0.11733	GAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	48	0	T	NM_003126		158645985	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	39.39	40	26	SNP	0.371	C
SPTAN1	6709	genome.wustl.edu	37	9	131371514	131371514	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:131371514A>T	ENST00000372731.4	+	36	4819	c.4709A>T	c.(4708-4710)aAa>aTa	p.K1570I	SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1570I|SPTAN1_ENST00000358161.5_Missense_Mutation_p.K1570I	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1570					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATCAGTGAAAAATTGCAAACA	0.458																																					NSCLC(120;833 1744 2558 35612 37579)												0													109.0	99.0	102.0					9																	131371514		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4709A>T	9.37:g.131371514A>T	ENSP00000361816:p.Lys1570Ile		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.K1570I	ENST00000372731.4	37	c.4709	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873121	0.51695	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.56103	0.48;0.48;0.48	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81235	0.4780	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.994;0.996	D	0.86947	0.2083	10	0.87932	D	0	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	1550;1570;1570	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	I	1570;1570;1570;1550	ENSP00000350882:K1570I;ENSP00000361816:K1570I;ENSP00000361824:K1570I	ENSP00000350882:K1570I	K	+	2	0	SPTAN1	130411335	1.000000	0.71417	0.321000	0.25320	0.221000	0.24807	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	AAA	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.458	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0.00	55	0	A	NM_003127		131371514	+1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.999	T
SSMEM1	136263	genome.wustl.edu	37	7	129847882	129847882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:129847882G>A	ENST00000297819.3	+	1	183	c.132G>A	c.(130-132)tgG>tgA	p.W44*	TMEM209_ENST00000473456.1_5'Flank|TMEM209_ENST00000397622.2_5'Flank|TMEM209_ENST00000336804.8_5'Flank|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_5'Flank	NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	44						integral component of membrane (GO:0016021)											TCCTGCTTTGGTATTTTGTTA	0.388																																																	0													249.0	243.0	245.0					7																	129847882		2203	4300	6503	SO:0001587	stop_gained	0			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.132G>A	7.37:g.129847882G>A	ENSP00000297819:p.Trp44*			Nonsense_Mutation	SNP	NULL	p.W44*	ENST00000297819.3	37	c.132	CCDS5816.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.907176	0.97093	.	.	ENSG00000165120	ENST00000297819	.	.	.	5.84	5.84	0.93424	.	0.105638	0.43747	D	0.000540	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3586	15.638	0.76970	0.0:0.0:1.0:0.0	.	.	.	.	X	44	.	ENSP00000297819:W44X	W	+	3	0	C7orf45	129635118	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.762000	0.38451	2.779000	0.95612	0.655000	0.94253	TGG	SSMEM1	-	NULL	ENSG00000165120		0.388	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSMEM1	HGNC	protein_coding	OTTHUMT00000349768.1	-	0.00	47	0	G	NM_145268		129847882	+1	tier1	-	no_errors	ENST00000297819	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	A
SULF1	23213	genome.wustl.edu	37	8	70517099	70517099	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:70517099A>G	ENST00000260128.4	+	13	2026	c.1309A>G	c.(1309-1311)Aaa>Gaa	p.K437E	SULF1_ENST00000419716.3_Missense_Mutation_p.K437E|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.K437E|SULF1_ENST00000458141.2_Missense_Mutation_p.K437E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	437					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCACTTGCCCAAATATGAACG	0.468																																																	0													105.0	100.0	102.0					8																	70517099		2203	4300	6503	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1309A>G	8.37:g.70517099A>G	ENSP00000260128:p.Lys437Glu		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.K437E	ENST00000260128.4	37	c.1309	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	A	27.6	4.844598	0.91197	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99399	-5.83;-5.83;-5.83;-5.83	6.04	6.04	0.98038	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.81497	2.545	0.80722	D	1	P	0.40515	0.719	B	0.40256	0.324	D	0.99872	1.1098	10	0.62326	D	0.03	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	437	Q8IWU6	SULF1_HUMAN	E	437	ENSP00000403040:K437E;ENSP00000260128:K437E;ENSP00000385704:K437E;ENSP00000390315:K437E	ENSP00000260128:K437E	K	+	1	0	SULF1	70679653	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	AAA	SULF1	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.468	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0.00	49	0	A	NM_015170		70517099	+1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	G
SVIL	6840	genome.wustl.edu	37	10	29782145	29782145	+	Silent	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:29782145G>T	ENST00000355867.4	-	21	4769	c.4017C>A	c.(4015-4017)ccC>ccA	p.P1339P	SVIL_ENST00000538146.1_Silent_p.P131P|SVIL_ENST00000535393.1_Silent_p.P253P|SVIL_ENST00000375400.3_Silent_p.P913P|SVIL_ENST00000375398.2_Silent_p.P1339P	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1339					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TAACTCACTTGGGTGCATAAG	0.493																																																	0													76.0	66.0	70.0					10																	29782145		2203	4300	6503	SO:0001819	synonymous_variant	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4017C>A	10.37:g.29782145G>T			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.P1339	ENST00000355867.4	37	c.4017	CCDS7164.1	10																																																																																			SVIL	-	NULL	ENSG00000197321		0.493	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1		0.00	56	0	G			29782145	-1			no_errors	ENST00000355867	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T
SYNDIG1	79953	genome.wustl.edu	37	20	24524097	24524097	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr20:24524097A>G	ENST00000376862.3	+	2	997	c.364A>G	c.(364-366)Acc>Gcc	p.T122A		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	122					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCGGTCGCCCACCAAAGACAG	0.592																																																	0													74.0	77.0	76.0					20																	24524097		2203	4300	6503	SO:0001583	missense	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.364A>G	20.37:g.24524097A>G	ENSP00000366058:p.Thr122Ala		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.T122A	ENST00000376862.3	37	c.364	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571892	0.28003	.	.	ENSG00000101463	ENST00000376862	D	0.90385	-2.66	5.61	3.32	0.38043	.	0.254858	0.39407	N	0.001378	T	0.81394	0.4813	L	0.31294	0.92	0.39863	D	0.973407	B	0.15473	0.013	B	0.10450	0.005	T	0.70938	-0.4736	10	0.17832	T	0.49	-56.5598	6.3701	0.21477	0.7552:0.1611:0.0837:0.0	.	122	Q9H7V2	SYNG1_HUMAN	A	122	ENSP00000366058:T122A	ENSP00000366058:T122A	T	+	1	0	SYNDIG1	24472097	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.056000	0.30480	0.921000	0.36994	0.533000	0.62120	ACC	SYNDIG1	-	NULL	ENSG00000101463		0.592	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0.00	49	0	A	NM_024893		24524097	+1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	missense	9.52	37	4	SNP	0.993	G
SYNE1	23345	genome.wustl.edu	37	6	152702457	152702457	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:152702457C>T	ENST00000367255.5	-	56	9294	c.8693G>A	c.(8692-8694)aGc>aAc	p.S2898N	SYNE1_ENST00000341594.5_Missense_Mutation_p.S2937N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2898N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2905N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2905N|SYNE1-AS1_ENST00000412161.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2898					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCACTCTGCTGAGACGGCT	0.532										HNSCC(10;0.0054)																																							0													125.0	125.0	125.0					6																	152702457		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8693G>A	6.37:g.152702457C>T	ENSP00000356224:p.Ser2898Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S2898N	ENST00000367255.5	37	c.8693	CCDS5236.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.07|15.07	2.722796|2.722796	0.48728|0.48728	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.52754	.|0.74;0.73;0.65;0.73;0.82	6.01|6.01	2.85|2.85	0.33270|0.33270	.|.	.|0.228427	.|0.39615	.|N	.|0.001320	T|T	0.10337|0.10337	0.0253|0.0253	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.12630	.|0.001;0.004;0.004;0.006	.|B;B;B;B	.|0.13407	.|0.001;0.004;0.004;0.009	T|T	0.08806|0.08806	-1.0704|-1.0704	5|10	.|0.19147	.|T	.|0.46	.|.	7.5052|7.5052	0.27540|0.27540	0.0:0.6438:0.1373:0.2189|0.0:0.6438:0.1373:0.2189	.|.	.|2881;2898;2898;2905	.|B3W695;Q8NF91;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.	T|N	15|2898;2905;2898;2905;2937	.|ENSP00000356224:S2898N;ENSP00000396024:S2905N;ENSP00000265368:S2898N;ENSP00000390975:S2905N;ENSP00000341887:S2937N	.|ENSP00000265368:S2898N	A|S	-|-	1|2	0|0	SYNE1|SYNE1	152744150|152744150	0.012000|0.012000	0.17670|0.17670	0.897000|0.897000	0.35233|0.35233	0.969000|0.969000	0.65631|0.65631	-0.037000|-0.037000	0.12164|0.12164	0.856000|0.856000	0.35383|0.35383	0.650000|0.650000	0.86243|0.86243	GCA|AGC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	25	0	C	NM_182961		152702457	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.783	T
SYT1	6857	genome.wustl.edu	37	12	79611436	79611436	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:79611436A>C	ENST00000261205.4	+	4	794	c.137A>C	c.(136-138)aAg>aCg	p.K46T	SYT1_ENST00000457153.2_Missense_Mutation_p.K46T|SYT1_ENST00000393240.3_Missense_Mutation_p.K46T|SYT1_ENST00000552744.1_Missense_Mutation_p.K46T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	46					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTGAAGGAGAAGTTTATGAAT	0.423																																																	0													75.0	76.0	75.0					12																	79611436		2203	4300	6503	SO:0001583	missense	0				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.137A>C	12.37:g.79611436A>C	ENSP00000261205:p.Lys46Thr		Q6AI31	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.K46T	ENST00000261205.4	37	c.137	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460561	0.84317	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	M	0.73962	2.25	0.80722	D	1	P;P	0.43094	0.799;0.799	B;B	0.40901	0.343;0.343	T	0.54563	-0.8275	10	0.54805	T	0.06	.	15.601	0.76626	1.0:0.0:0.0:0.0	.	46;46	Q6AI31;P21579	.;SYT1_HUMAN	T	46	ENSP00000376932:K46T;ENSP00000261205:K46T;ENSP00000391056:K46T;ENSP00000447035:K46T;ENSP00000447575:K46T;ENSP00000448861:K46T;ENSP00000401559:K46T	ENSP00000261205:K46T	K	+	2	0	SYT1	78135567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.433000	0.90291	2.084000	0.62774	0.519000	0.50382	AAG	SYT1	-	NULL	ENSG00000067715		0.423	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1	-	0.00	56	0	A	NM_005639		79611436	+1	tier1	-	no_errors	ENST00000261205	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	C
SYT9	143425	genome.wustl.edu	37	11	7335091	7335091	+	Silent	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:7335091A>G	ENST00000318881.6	+	3	1200	c.963A>G	c.(961-963)caA>caG	p.Q321Q	SYT9_ENST00000396716.2_Silent_p.Q289Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	321	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TAATCGGCCAAGTGGTGGTGG	0.463																																																	0													180.0	177.0	178.0					11																	7335091		2201	4296	6497	SO:0001819	synonymous_variant	0			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.963A>G	11.37:g.7335091A>G				Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.Q321	ENST00000318881.6	37	c.963	CCDS7778.1	11																																																																																			SYT9	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	ENSG00000170743		0.463	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	-	0.00	62	0	A	NM_175733		7335091	+1	tier1	-	no_errors	ENST00000318881	ensembl	human	known	74_37	silent	59.04	34	49	SNP	0.993	G
SYTL1	84958	genome.wustl.edu	37	1	27677651	27677651	+	Intron	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:27677651C>T	ENST00000543823.1	+	11	1626				SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Intron			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGCCCCGCCGTCTCTTCTA	0.687																																																	0																																										SO:0001627	intron_variant	0			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1165-98C>T	1.37:g.27677651C>T			Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	RNA	SNP	-	NULL	ENST00000543823.1	37	NULL	CCDS53286.1	1																																																																																			SYTL1	-	-	ENSG00000142765		0.687	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	HGNC	protein_coding		-	0.00	67	0	C	NM_032872		27677651	+1	tier1	-	no_errors	ENST00000490170	ensembl	human	known	74_37	rna	20.27	59	15	SNP	0.000	T
TAS2R10	50839	genome.wustl.edu	37	12	10978034	10978034	+	Silent	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:10978034G>A	ENST00000240619.2	-	1	923	c.835C>T	c.(835-837)Cta>Tta	p.L279L		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	279					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGTTTCCTAGAATTAAGATA	0.413																																																	0													87.0	85.0	85.0					12																	10978034		2203	4299	6502	SO:0001819	synonymous_variant	0			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.835C>T	12.37:g.10978034G>A			Q3MIM9|Q6NTD9	Silent	SNP	pfam_TAS2_rcpt	p.L279	ENST00000240619.2	37	c.835	CCDS8634.1	12																																																																																			TAS2R10	-	pfam_TAS2_rcpt	ENSG00000121318		0.413	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R10	HGNC	protein_coding	OTTHUMT00000399934.1	-	0.00	53	0	G			10978034	-1	tier1	-	no_errors	ENST00000240619	ensembl	human	known	74_37	silent	41.51	31	22	SNP	0.992	A
TBRG4	9238	genome.wustl.edu	37	7	45139959	45139959	+	Missense_Mutation	SNP	T	T	A	rs151054640	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:45139959T>A	ENST00000258770.3	-	11	1982	c.1861A>T	c.(1861-1863)Atg>Ttg	p.M621L	TBRG4_ENST00000395655.4_Missense_Mutation_p.M511L|TBRG4_ENST00000494076.1_Missense_Mutation_p.M621L|TBRG4_ENST00000361278.3_Missense_Mutation_p.M511L	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	621					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GCTTTGCGCATCTTGTCCTTG	0.597																																																	0													122.0	85.0	97.0					7																	45139959		2203	4300	6503	SO:0001583	missense	0			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.1861A>T	7.37:g.45139959T>A	ENSP00000258770:p.Met621Leu		A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.M621L	ENST00000258770.3	37	c.1861	CCDS5501.1	7	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246324	0.39697	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076	T;T;T;T	0.10573	3.63;2.86;2.86;3.63	5.25	5.25	0.73442	.	0.184390	0.56097	D	0.000028	T	0.05731	0.0150	N	0.12182	0.205	0.46167	D	0.998906	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.12837	0.001;0.008;0.0	T	0.13282	-1.0515	10	0.02654	T	1	.	13.172	0.59604	0.0:0.0:0.0:1.0	.	632;511;621	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	L	621;511;511;621	ENSP00000258770:M621L;ENSP00000354992:M511L;ENSP00000379016:M511L;ENSP00000420597:M621L	ENSP00000258770:M621L	M	-	1	0	TBRG4	45106484	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	3.596000	0.54024	2.205000	0.71048	0.533000	0.62120	ATG	TBRG4	-	NULL	ENSG00000136270		0.597	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG4	HGNC	protein_coding	OTTHUMT00000251351.1	-	0.00	71	0	T	NM_030900		45139959	-1	tier1	-	no_errors	ENST00000258770	ensembl	human	known	74_37	missense	18.84	56	13	SNP	1.000	A
TCAM1P	146771	genome.wustl.edu	37	17	61936711	61936711	+	RNA	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:61936711G>A	ENST00000478379.1	+	0	456					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		CTGGGTGGCTGTGGACGAAGC	0.532																																																	0																																												0			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61936711G>A				RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-	ENSG00000240280		0.532	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1	-	0.00	50	0	G			61936711	+1	tier1	-	no_errors	ENST00000466125	ensembl	human	known	74_37	rna	9.30	39	4	SNP	0.006	A
TCEB1	6921	genome.wustl.edu	37	8	74858940	74858940	+	Silent	SNP	G	G	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:74858940G>C	ENST00000522337.1	-	5	583	c.264C>G	c.(262-264)acC>acG	p.T88T	TCEB1_ENST00000519487.1_Silent_p.T88T|TCEB1_ENST00000520210.1_Silent_p.T72T|TCEB1_ENST00000518127.1_Silent_p.T88T|TCEB1_ENST00000284811.8_Silent_p.T88T|TCEB1_ENST00000520242.1_Silent_p.T88T|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000523815.1_Silent_p.T88T			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	88					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			CAGGAATCTCGGTGGAGCTGT	0.373																																																	0													71.0	60.0	64.0					8																	74858940		2203	4300	6503	SO:0001819	synonymous_variant	0			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.264C>G	8.37:g.74858940G>C			E5RGD9|Q567Q6	Silent	SNP	pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp	p.T88	ENST00000522337.1	37	c.264	CCDS34910.1	8																																																																																			TCEB1	-	superfamily_BTB/POZ_fold,smart_Skp1_comp	ENSG00000154582		0.373	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TCEB1	HGNC	protein_coding	OTTHUMT00000379020.1	-	0.00	46	0	G	NM_005648		74858940	-1	tier1	-	no_errors	ENST00000520242	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.482	C
TCEB3B	51224	genome.wustl.edu	37	18	44560412	44560412	+	Silent	SNP	T	T	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr18:44560412T>A	ENST00000332567.4	-	1	1576	c.1224A>T	c.(1222-1224)ggA>ggT	p.G408G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	408					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGTTTATCTCCAAGTGCAG	0.483																																																	0													120.0	106.0	111.0					18																	44560412		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1224A>T	18.37:g.44560412T>A			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.G408	ENST00000332567.4	37	c.1224	CCDS11932.1	18																																																																																			TCEB3B	-	NULL	ENSG00000206181		0.483	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	-	0.00	84	0	T	NM_016427		44560412	-1	tier1	-	no_errors	ENST00000332567	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.001	A
TET2	54790	genome.wustl.edu	37	4	106157180	106157180	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:106157180T>G	ENST00000540549.1	+	3	2941	c.2081T>G	c.(2080-2082)cTt>cGt	p.L694R	TET2_ENST00000380013.4_Missense_Mutation_p.L694R|TET2_ENST00000545826.1_Missense_Mutation_p.L694R|TET2_ENST00000305737.2_Missense_Mutation_p.L694R|TET2_ENST00000513237.1_Missense_Mutation_p.L715R|TET2_ENST00000413648.2_Missense_Mutation_p.L694R|TET2_ENST00000394764.1_Missense_Mutation_p.L694R			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	694	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.F683fs*17(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACTGAAAAACTTATGTCCCCA	0.413			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											87.0	90.0	89.0					4																	106157180		2203	4300	6503	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2081T>G	4.37:g.106157180T>G	ENSP00000442788:p.Leu694Arg		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.L694R	ENST00000540549.1	37	c.2081	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	T	11.58	1.680603	0.29872	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.93	3.8	0.43715	.	.	.	.	.	T	0.15262	0.0368	N	0.24115	0.695	0.25567	N	0.986939	P;P;D	0.58268	0.838;0.838;0.982	P;P;P	0.57911	0.466;0.466;0.829	T	0.17349	-1.0372	9	0.07990	T	0.79	.	2.9786	0.05946	0.0:0.3022:0.0:0.6978	.	715;694;694	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	R	694;694;694;715;694;694;694	ENSP00000306705:L694R;ENSP00000442788:L694R;ENSP00000442867:L694R;ENSP00000425443:L715R;ENSP00000369351:L694R;ENSP00000378245:L694R;ENSP00000391448:L694R	ENSP00000265149:L694R	L	+	2	0	TET2	106376629	0.968000	0.33430	0.902000	0.35471	0.036000	0.12997	1.763000	0.38461	1.854000	0.53819	0.533000	0.62120	CTT	TET2	-	NULL	ENSG00000168769		0.413	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0.00	64	0	T	NM_017628		106157180	+1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.981	G
TG	7038	genome.wustl.edu	37	8	133931746	133931746	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:133931746G>A	ENST00000220616.4	+	21	4544	c.4504G>A	c.(4504-4506)Gct>Act	p.A1502T	TG_ENST00000377869.1_Missense_Mutation_p.A1502T|TG_ENST00000542445.1_De_novo_Start_OutOfFrame	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1502					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACCATTTCTGCTGGAGCTTT	0.493																																																	0													150.0	118.0	129.0					8																	133931746		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4504G>A	8.37:g.133931746G>A	ENSP00000220616:p.Ala1502Thr		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.A1502T	ENST00000220616.4	37	c.4504	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.505|1.505	-0.550892|-0.550892	0.03996|0.03996	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616|ENST00000519178	T;D|.	0.97378|.	2.51;-4.36|.	5.39|5.39	-2.13|-2.13	0.07144|0.07144	Tyrosine-protein kinase ephrin type A/B receptor-like (1);|.	2.862960|.	0.00899|.	N|.	0.002320|.	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.10945|0.10945	0.07|0.07	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.15052|.	0.012|.	T|T	0.29549|0.29549	-1.0008|-1.0008	10|5	0.12766|.	T|.	0.61|.	.|.	5.6584|5.6584	0.17654|0.17654	0.3026:0.3977:0.2997:0.0|0.3026:0.3977:0.2997:0.0	.|.	1502|.	P01266|.	THYG_HUMAN|.	T|Y	1502;308;1502|21	ENSP00000367100:A1502T;ENSP00000220616:A1502T|.	ENSP00000220616:A1502T|.	A|C	+|+	1|2	0|0	TG|TG	134000928|134000928	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.087000|0.087000	0.18053|0.18053	-1.090000|-1.090000	0.03372|0.03372	-0.316000|-0.316000	0.08690|0.08690	0.561000|0.561000	0.74099|0.74099	GCT|TGC	TG	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pirsf_Thyroglobulin	ENSG00000042832		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0.00	44	0	G	NM_003235		133931746	+1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.000	A
TG	7038	genome.wustl.edu	37	8	134030169	134030169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:134030169delC	ENST00000220616.4	+	38	6749	c.6709delC	c.(6709-6711)cccfs	p.P2237fs	TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Frame_Shift_Del_p.P370fs|TG_ENST00000377869.1_Frame_Shift_Del_p.P2180fs|TG_ENST00000542445.1_Frame_Shift_Del_p.P607fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2237					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCTGCCCCGCCCCTGGCAGA	0.617																																																	0													51.0	49.0	49.0					8																	134030169		2203	4300	6503	SO:0001589	frameshift_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6709delC	8.37:g.134030169delC	ENSP00000220616:p.Pro2237fs		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.L2238fs	ENST00000220616.4	37	c.6709	CCDS34944.1	8																																																																																			TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin	ENSG00000042832		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1		0.00	49	0	C	NM_003235		134030169	+1	tier1		no_errors	ENST00000220616	ensembl	human	known	74_37	frame_shift_del	9.09	60	6	DEL	0.954	-
TGFBR1	7046	genome.wustl.edu	37	9	101908876	101908876	+	Missense_Mutation	SNP	C	C	G	rs387906697		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:101908876C>G	ENST00000374994.4	+	7	1357	c.1240C>G	c.(1240-1242)Cga>Gga	p.R414G	TGFBR1_ENST00000550253.1_Missense_Mutation_p.R345G|RNA5SP290_ENST00000517133.1_RNA|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R337G|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R418G	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATTGCTCGACGATGTTCCAT	0.378																																																	0													273.0	269.0	271.0					9																	101908876		2203	4300	6503	SO:0001583	missense	0				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1240C>G	9.37:g.101908876C>G	ENSP00000364133:p.Arg414Gly		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R414G	ENST00000374994.4	37	c.1240	CCDS6738.1	9	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452638	0.63290	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.33	2.22	0.28083	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93926	0.8056	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93947	0.7228	10	0.87932	D	0	.	13.9103	0.63862	0.3887:0.6113:0.0:0.0	.	337;414	P36897-3;P36897	.;TGFR1_HUMAN	G	414;376;337;418;345	ENSP00000364133:R414G;ENSP00000364129:R337G;ENSP00000447297:R418G;ENSP00000450052:R345G	ENSP00000364129:R337G	R	+	1	2	TGFBR1	100948697	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.120000	0.41968	0.693000	0.31634	0.467000	0.42956	CGA	TGFBR1	-	pfam_Prot_kinase_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_dom	ENSG00000106799		0.378	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR1	HGNC	protein_coding	OTTHUMT00000053390.3	-	0.00	57	0	C			101908876	+1	tier1	-	no_errors	ENST00000374994	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.999	G
TICRR	90381	genome.wustl.edu	37	15	90125917	90125917	+	Splice_Site	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:90125917T>G	ENST00000268138.7	+	2	760	c.655T>G	c.(655-657)Ttg>Gtg	p.L219V	TICRR_ENST00000560985.1_Splice_Site_p.L219V|RP11-429B14.1_ENST00000559041.1_RNA|RP11-429B14.3_ENST00000560477.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	219					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TTTATTTTAGTTGTGGGAATC	0.393																																																	0													100.0	95.0	97.0					15																	90125917		1854	4110	5964	SO:0001630	splice_region_variant	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.655-1T>G	15.37:g.90125917T>G			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.L219V	ENST00000268138.7	37	c.655	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266611	0.40095	.	.	ENSG00000140534	ENST00000268138	T	0.19669	2.13	5.44	-10.9	0.00192	.	0.987081	0.08220	N	0.979261	T	0.25419	0.0618	M	0.62723	1.935	0.18873	N	0.999987	D	0.55800	0.973	P	0.56088	0.791	T	0.21690	-1.0238	9	.	.	.	-0.6813	6.1589	0.20354	0.157:0.4991:0.078:0.2659	.	219	Q7Z2Z1	TICRR_HUMAN	V	219	ENSP00000268138:L219V	.	L	+	1	2	C15orf42	87926921	0.018000	0.18449	0.258000	0.24420	0.554000	0.35429	-1.679000	0.01940	-2.331000	0.00632	-2.489000	0.00195	TTG	TICRR	-	NULL	ENSG00000140534		0.393	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	-	0.00	36	0	T	NM_152259	Missense_Mutation	90125917	+1	tier1	-	no_errors	ENST00000268138	ensembl	human	known	74_37	missense	31.03	19	9	SNP	0.005	G
TIMM50	92609	genome.wustl.edu	37	19	39979266	39979266	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:39979266G>T	ENST00000607714.1	+	10	963	c.941G>T	c.(940-942)cGg>cTg	p.R314L	TIMM50_ENST00000314349.4_Missense_Mutation_p.R417L|TIMM50_ENST00000544017.1_Missense_Mutation_p.R201L|TIMM50_ENST00000599794.1_Missense_Mutation_p.R118L			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	314					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCAAACAGCGGCAAAGCCGG	0.612																																																	0													77.0	79.0	78.0					19																	39979266		2203	4300	6503	SO:0001583	missense	0			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.941G>T	19.37:g.39979266G>T	ENSP00000475531:p.Arg314Leu		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.R417L	ENST00000607714.1	37	c.1250		19	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324511	0.60634	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.74535	0.3729	L	0.51422	1.61	0.80722	D	1	P;D	0.89917	0.841;1.0	B;D	0.87578	0.204;0.998	T	0.72590	-0.4247	8	.	.	.	-20.3605	17.3949	0.87442	0.0:0.0:1.0:0.0	.	314;417	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	L	417;201	.	.	R	+	2	0	TIMM50	44671106	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	9.159000	0.94728	2.645000	0.89757	0.561000	0.74099	CGG	TIMM50	-	NULL	ENSG00000105197		0.612	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	HGNC	protein_coding	OTTHUMT00000470728.1		0.00	15	0	G	NM_001001563		39979266	+1			no_errors	ENST00000314349	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T
TLR4	7099	genome.wustl.edu	37	9	120476670	120476670	+	Missense_Mutation	SNP	A	A	C	rs55956551		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:120476670A>C	ENST00000355622.6	+	3	2365	c.2264A>C	c.(2263-2265)cAg>cCg	p.Q755P	TLR4_ENST00000394487.4_Missense_Mutation_p.Q715P|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	755	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GAGATTGCTCAGACCTGGCAG	0.502																																																	0													71.0	70.0	70.0					9																	120476670		2203	4300	6503	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2264A>C	9.37:g.120476670A>C	ENSP00000363089:p.Gln755Pro		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Q755P	ENST00000355622.6	37	c.2264	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	A	19.26	3.793090	0.70452	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.08282	3.11;3.11	6.03	6.03	0.97812	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.088557	0.49916	D	0.000135	T	0.24547	0.0595	L	0.58510	1.815	0.43652	D	0.996067	D	0.76494	0.999	D	0.77557	0.99	T	0.00292	-1.1842	10	0.72032	D	0.01	.	12.3722	0.55261	0.9331:0.0:0.0669:0.0	.	755	O00206	TLR4_HUMAN	P	715;755	ENSP00000377997:Q715P;ENSP00000363089:Q755P	ENSP00000363089:Q755P	Q	+	2	0	TLR4	119516491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.522000	0.60539	2.308000	0.77769	0.533000	0.62120	CAG	TLR4	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000136869		0.502	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0.00	54	0	A	NM_138554		120476670	+1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	C
TMPRSS6	164656	genome.wustl.edu	37	22	37480411	37480411	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr22:37480411A>C	ENST00000346753.3	-	10	1263	c.1147T>G	c.(1147-1149)Ttt>Gtt	p.F383V	RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.F374V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.F383V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.F374V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.F374V	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	383	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGGCATCAAACCAGAGGGCC	0.617																																																	0													89.0	59.0	69.0					22																	37480411		2203	4300	6503	SO:0001583	missense	0			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1147T>G	22.37:g.37480411A>C	ENSP00000334962:p.Phe383Val		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.F374V	ENST00000346753.3	37	c.1120	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463778	0.84425	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000429068;ENST00000442782	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	4.29	4.29	0.51040	CUB (4);	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	M	0.79475	2.455	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.74348	0.983;0.951;0.895	T	0.58978	-0.7540	10	0.56958	D	0.05	.	12.6213	0.56605	1.0:0.0:0.0:0.0	.	383;374;383	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	V	374;383;374;374;45;383	ENSP00000371211:F374V;ENSP00000334962:F383V;ENSP00000385453:F374V;ENSP00000384964:F374V;ENSP00000392433:F45V;ENSP00000397691:F383V	ENSP00000334962:F383V	F	-	1	0	TMPRSS6	35810357	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.822000	0.92013	1.578000	0.49821	0.482000	0.46254	TTT	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom,pfscan_CUB_dom	ENSG00000187045		0.617	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	-	0.00	39	0	A	NM_153609		37480411	-1	tier1	-	no_errors	ENST00000381792	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	C
TNRC6A	27327	genome.wustl.edu	37	16	24788428	24788428	+	Missense_Mutation	SNP	C	C	A	rs10593507|rs71156436|rs71383714	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:24788428C>A	ENST00000395799.3	+	5	467	c.338C>A	c.(337-339)cCa>cAa	p.P113Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P113Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	113	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		cagcagcagccacagccgcag	0.592																																																	0													18.0	23.0	21.0					16																	24788428		2035	3998	6033	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.338C>A	16.37:g.24788428C>A	ENSP00000379144:p.Pro113Gln		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.P113Q	ENST00000395799.3	37	c.338	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.972007	0.00048	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11385	2.78;2.78	1.08	-2.16	0.07080	.	1.229440	0.06127	N	0.669828	T	0.09468	0.0233	N	0.08118	0	0.09310	N	0.999999	D	0.55605	0.972	P	0.56700	0.804	T	0.20840	-1.0263	10	0.33141	T	0.24	3.7589	4.9815	0.14168	0.6153:0.3847:0.0:0.0	.	113	Q8NDV7	TNR6A_HUMAN	Q	113	ENSP00000326900:P113Q;ENSP00000379144:P113Q	ENSP00000326900:P113Q	P	+	2	0	TNRC6A	24695929	0.000000	0.05858	0.046000	0.18839	0.007000	0.05969	-0.945000	0.03909	-0.553000	0.06158	-0.666000	0.03841	CCA	TNRC6A	-	NULL	ENSG00000090905		0.592	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1		0.00	65	0	C	NM_020847		24788428	+1			no_errors	ENST00000395799	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.109	A
TP53	7157	genome.wustl.edu	37	17	7579350	7579350	+	Missense_Mutation	SNP	A	A	C	rs587781642		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:7579350A>C	ENST00000269305.4	-	4	526	c.337T>G	c.(337-339)Ttc>Gtc	p.F113V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F113V|TP53_ENST00000413465.2_Missense_Mutation_p.F113V|TP53_ENST00000445888.2_Missense_Mutation_p.F113V|TP53_ENST00000420246.2_Missense_Mutation_p.F113V|TP53_ENST00000359597.4_Missense_Mutation_p.F113V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	113	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F113V(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAATGCAAGAAGCCCAGACGG	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	26	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(7)|Deletion - In frame(3)	upper_aerodigestive_tract(5)|bone(4)|breast(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|urinary_tract(1)|liver(1)|oesophagus(1)											65.0	61.0	62.0					17																	7579350		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.337T>G	17.37:g.7579350A>C	ENSP00000269305:p.Phe113Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.F113V	ENST00000269305.4	37	c.337	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552094	0.86127	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.76433	2.335	0.54753	D	0.999983	D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;0.474;1.0;1.0;1.0	D;D;D;B;D;D;D	0.97110	1.0;1.0;1.0;0.425;1.0;1.0;1.0	D	0.96597	0.9442	10	0.87932	D	0	-31.6488	12.5363	0.56144	1.0:0.0:0.0:0.0	.	74;113;113;113;113;113;113	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	113	ENSP00000410739:F113V;ENSP00000352610:F113V;ENSP00000269305:F113V;ENSP00000398846:F113V;ENSP00000391127:F113V;ENSP00000391478:F113V;ENSP00000424104:F113V;ENSP00000426252:F113V	ENSP00000269305:F113V	F	-	1	0	TP53	7520075	1.000000	0.71417	0.981000	0.43875	0.964000	0.63967	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	TTC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	113	0	A	NM_000546		7579350	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	58.42	42	59	SNP	0.999	C
TRHDE	29953	genome.wustl.edu	37	12	73012730	73012730	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:73012730A>C	ENST00000261180.4	+	13	2342	c.2246A>C	c.(2245-2247)aAg>aCg	p.K749T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	749					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCTGAGGAGAAGGATTTTCTT	0.378																																																	0													56.0	61.0	60.0					12																	73012730		2202	4298	6500	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2246A>C	12.37:g.73012730A>C	ENSP00000261180:p.Lys749Thr		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.K749T	ENST00000261180.4	37	c.2246	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	A	9.597	1.127568	0.20959	.	.	ENSG00000072657	ENST00000261180	T	0.03951	3.75	5.77	5.77	0.91146	.	0.050579	0.85682	D	0.000000	T	0.02380	0.0073	N	0.02379	-0.575	0.45284	D	0.998289	B	0.12630	0.006	B	0.11329	0.006	T	0.47018	-0.9149	10	0.07175	T	0.84	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	749	Q9UKU6	TRHDE_HUMAN	T	749	ENSP00000261180:K749T	ENSP00000261180:K749T	K	+	2	0	TRHDE	71298997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.173000	0.58249	2.326000	0.78906	0.533000	0.62120	AAG	TRHDE	-	NULL	ENSG00000072657		0.378	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1		0.00	35	0	A	NM_013381		73012730	+1			no_errors	ENST00000261180	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	C
TSC22D1	8848	genome.wustl.edu	37	13	45149652	45149652	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:45149652C>T	ENST00000458659.2	-	1	1049	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	TSC22D1_ENST00000501704.2_Missense_Mutation_p.G187R|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	187					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAGACTGCCCCAGGTGTCTCG	0.537																																																	0													72.0	73.0	73.0					13																	45149652		2203	4300	6503	SO:0001583	missense	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.559G>A	13.37:g.45149652C>T	ENSP00000397435:p.Gly187Arg		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.G187R	ENST00000458659.2	37	c.559	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024687	0.54683	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T;T	0.25912	1.77;1.77	4.5	4.5	0.54988	.	0.000000	0.56097	D	0.000036	T	0.45736	0.1357	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.859	T	0.43861	-0.9365	10	0.66056	D	0.02	.	15.9214	0.79580	0.0:1.0:0.0:0.0	.	187;187	B3KRL7;Q15714	.;T22D1_HUMAN	R	187	ENSP00000397435:G187R;ENSP00000437414:G187R	ENSP00000397435:G187R	G	-	1	0	TSC22D1	44047652	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	7.271000	0.78506	2.319000	0.78375	0.561000	0.74099	GGG	TSC22D1	-	NULL	ENSG00000102804		0.537	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	-	0.00	73	0	C	NM_006022		45149652	-1	tier1	-	no_errors	ENST00000458659	ensembl	human	known	74_37	missense	30.00	49	21	SNP	1.000	T
TSPAN7	7102	genome.wustl.edu	37	X	38525478	38525479	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:38525478_38525479TC>AT	ENST00000378482.2	+	2	362_363	c.185_186TC>AT	c.(184-186)cTC>cAT	p.L62H	TSPAN7_ENST00000422612.2_Missense_Mutation_p.L88H|TSPAN7_ENST00000286824.6_Missense_Mutation_p.L79H|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000545599.1_Missense_Mutation_p.L36H|TM4SF2_ENST00000465127.1_Missense_Mutation_p.L92H	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	62					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTATGTGCTCATCGGAACTG	0.505																																																	0																																										SO:0001583	missense	0			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	Exception_encountered	X.37:g.38525478_38525479delinsAT	ENSP00000367743:p.Leu62His		B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation|Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L88H|p.L88	ENST00000378482.2	37	c.263|c.264	CCDS14248.1	X																																																																																			TSPAN7	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000156298		0.505	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN7	HGNC	protein_coding	OTTHUMT00000356412.1	-	0.00	59|58	0	T|C			38525478|38525479	+1	tier1	-	no_errors	ENST00000422612	ensembl	human	known	74_37	missense|silent	5.33|5.56	71|68	4	SNP	1.000	A|T
TTN	7273	genome.wustl.edu	37	2	179469607	179469607	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:179469607C>T	ENST00000591111.1	-	231	49510	c.49286G>A	c.(49285-49287)aGa>aAa	p.R16429K	TTN_ENST00000342175.6_Missense_Mutation_p.R9197K|TTN_ENST00000589042.1_Missense_Mutation_p.R18070K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9130K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9005K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15502K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16429	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAAGATTTCTTGGTGGGGA	0.418																																																	0													113.0	104.0	107.0					2																	179469607		1892	4129	6021	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49286G>A	2.37:g.179469607C>T	ENSP00000465570:p.Arg16429Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R15502K	ENST00000591111.1	37	c.46505		2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164781	0.57476	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68265	0.2982	L	0.41961	1.31	0.58432	D	0.999996	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.68534	-0.5383	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	9005;9130;9197;16429	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	15502;9005;9197;9130;9005	ENSP00000343764:R15502K;ENSP00000434586:R9005K;ENSP00000340554:R9197K;ENSP00000352154:R9130K	ENSP00000340554:R9197K	R	-	2	0	TTN	179177852	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.873000	0.98535	0.563000	0.77884	AGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	62	0	C	NM_133378		179469607	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	31.65	54	25	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179484844	179484844	+	Intron	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:179484844A>C	ENST00000591111.1	-	199	41606				TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTATCTAAAGGAGACATTG	0.348																																																	0													119.0	112.0	114.0					2																	179484844		1846	4099	5945	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41382-5T>G	2.37:g.179484844A>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			TTN-AS1	-	-	ENSG00000237298		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	41	0	A	NM_133378		179484844	+1	tier1	-	no_errors	ENST00000456053	ensembl	human	known	74_37	rna	22.73	17	5	SNP	0.002	C
ULK2	9706	genome.wustl.edu	37	17	19680971	19680971	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:19680971T>A	ENST00000395544.4	-	26	3474	c.2975A>T	c.(2974-2976)tAt>tTt	p.Y992F	ULK2_ENST00000361658.2_Missense_Mutation_p.Y992F	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	992	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGCCTTATGATAGCGATAAAC	0.408																																																	0													97.0	91.0	93.0					17																	19680971		2203	4300	6503	SO:0001583	missense	0			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2975A>T	17.37:g.19680971T>A	ENSP00000378914:p.Tyr992Phe		A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y992F	ENST00000395544.4	37	c.2975	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	T	31	5.059021	0.93846	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.69175	-0.38;-0.38	5.73	5.73	0.89815	Serine/threonine-protein kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	M	0.84082	2.675	0.46376	D	0.999013	D	0.76494	0.999	D	0.79108	0.992	D	0.85603	0.1253	10	0.87932	D	0	-17.6797	15.2018	0.73142	0.0:0.0:0.0:1.0	.	992	Q8IYT8	ULK2_HUMAN	F	992	ENSP00000354877:Y992F;ENSP00000378914:Y992F	ENSP00000354877:Y992F	Y	-	2	0	ULK2	19621563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.641000	0.83368	2.179000	0.69175	0.528000	0.53228	TAT	ULK2	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000083290		0.408	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2		0.00	57	0	T	NM_014683		19680971	-1			no_errors	ENST00000361658	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	A
UBTF	7343	genome.wustl.edu	37	17	42290223	42290223	+	Silent	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:42290223G>T	ENST00000302904.4	-	7	1116	c.624C>A	c.(622-624)acC>acA	p.T208T	UBTF_ENST00000436088.1_Silent_p.T208T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Silent_p.T208T|UBTF_ENST00000526094.1_Silent_p.T208T|UBTF_ENST00000537550.1_5'Flank|UBTF_ENST00000529383.1_Silent_p.T208T|UBTF_ENST00000343638.5_Silent_p.T208T|UBTF_ENST00000393606.3_Silent_p.T208T|UBTF_ENST00000527034.1_Silent_p.T208T			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	208					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCTTCTCGTGGGTGTACCACA	0.622																																																	0													185.0	168.0	174.0					17																	42290223		2203	4300	6503	SO:0001819	synonymous_variant	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.624C>A	17.37:g.42290223G>T			A8K6R8	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	p.T208	ENST00000302904.4	37	c.624	CCDS11480.1	17																																																																																			UBTF	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000108312		0.622	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	-	0.00	52	0	G	NM_014233		42290223	-1	tier1	-	no_errors	ENST00000302904	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	T
UMOD	7369	genome.wustl.edu	37	16	20360416	20360416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:20360416G>T	ENST00000570689.1	-	3	353	c.207C>A	c.(205-207)tgC>tgA	p.C69*	UMOD_ENST00000302509.4_Nonsense_Mutation_p.C69*|UMOD_ENST00000396138.4_Nonsense_Mutation_p.C118*|UMOD_ENST00000424589.1_Nonsense_Mutation_p.C102*|UMOD_ENST00000396134.2_Nonsense_Mutation_p.C102*|UMOD_ENST00000396142.2_Nonsense_Mutation_p.C69*			P07911	UROM_HUMAN	uromodulin	69	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGAATGGCGCACTCATCCA	0.642																																																	0													55.0	39.0	45.0					16																	20360416		2203	4300	6503	SO:0001587	stop_gained	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.207C>A	16.37:g.20360416G>T	ENSP00000460548:p.Cys69*		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Nonsense_Mutation	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.C102*	ENST00000570689.1	37	c.306	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	g	15.01	2.706446	0.48412	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	.	.	.	5.39	-2.97	0.05530	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3668	11.7556	0.51874	0.7961:0.0:0.2039:0.0	.	.	.	.	X	69;102;102;69;69;69	.	ENSP00000306279:C69X	C	-	3	2	UMOD	20267917	0.817000	0.29147	0.368000	0.25939	0.393000	0.30537	0.043000	0.13971	-0.252000	0.09528	0.556000	0.70494	TGC	UMOD	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000169344		0.642	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0.00	50	0	G			20360416	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	nonsense	21.67	47	13	SNP	0.917	T
USH2A	7399	genome.wustl.edu	37	1	215963479	215963479	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:215963479C>A	ENST00000307340.3	-	51	10490	c.10104G>T	c.(10102-10104)caG>caT	p.Q3368H	USH2A_ENST00000366943.2_Missense_Mutation_p.Q3368H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3368					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q3368Q(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACAGCATTTCTGGCTCTTTG	0.388										HNSCC(13;0.011)																																							1	Substitution - coding silent(1)	lung(1)											126.0	122.0	123.0					1																	215963479		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10104G>T	1.37:g.215963479C>A	ENSP00000305941:p.Gln3368His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q3368H	ENST00000307340.3	37	c.10104	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748418	0.69533	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.14022	2.54;2.54	5.76	5.76	0.90799	Fibronectin, type III (2);	0.170694	0.27705	N	0.018186	T	0.19485	0.0468	M	0.65975	2.015	0.34925	D	0.74883	P	0.49961	0.93	P	0.44732	0.459	T	0.25117	-1.0141	10	0.87932	D	0	.	10.068	0.42315	0.0:0.8473:0.0:0.1527	.	3368	O75445	USH2A_HUMAN	H	3368	ENSP00000305941:Q3368H;ENSP00000355910:Q3368H	ENSP00000305941:Q3368H	Q	-	3	2	USH2A	214030102	0.963000	0.33076	0.957000	0.39632	0.997000	0.91878	1.728000	0.38105	2.713000	0.92767	0.655000	0.94253	CAG	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0.00	54	0	C	NM_007123		215963479	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A
VAC14	55697	genome.wustl.edu	37	16	70796857	70796857	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:70796857G>T	ENST00000261776.5	-	11	1492	c.1232C>A	c.(1231-1233)aCg>aAg	p.T411K	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	411					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCCAATGGCCGTGTCACTGAG	0.577																																																	0													123.0	93.0	103.0					16																	70796857		2198	4300	6498	SO:0001583	missense	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1232C>A	16.37:g.70796857G>T	ENSP00000261776:p.Thr411Lys		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.T411K	ENST00000261776.5	37	c.1232	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	G	7.740	0.701044	0.15172	.	.	ENSG00000103043	ENST00000261776	T	0.65549	-0.16	5.81	-4.85	0.03142	Armadillo-like helical (1);Armadillo-type fold (1);	0.521615	0.24831	N	0.035243	T	0.46288	0.1385	L	0.38531	1.155	0.58432	D	0.999997	B	0.23937	0.094	B	0.20384	0.029	T	0.49615	-0.8921	10	0.06625	T	0.88	-6.7186	21.2037	0.99948	0.1258:0.0:0.8742:0.0	.	411	Q08AM6	VAC14_HUMAN	K	411	ENSP00000261776:T411K	ENSP00000261776:T411K	T	-	2	0	VAC14	69354358	0.847000	0.29606	0.854000	0.33618	0.983000	0.72400	1.364000	0.34171	-0.819000	0.04323	-0.302000	0.09304	ACG	VAC14	-	superfamily_ARM-type_fold	ENSG00000103043		0.577	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3		0.00	42	0	G	NM_018052		70796857	-1			no_errors	ENST00000261776	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.910	T
VCAN	1462	genome.wustl.edu	37	5	82808152	82808152	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:82808152C>T	ENST00000265077.3	+	6	1544	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	VCAN_ENST00000513984.1_Missense_Mutation_p.R327C|VCAN_ENST00000502527.2_Missense_Mutation_p.R327C|VCAN_ENST00000343200.5_Missense_Mutation_p.R327C|VCAN_ENST00000512590.2_Missense_Mutation_p.R279C|VCAN_ENST00000342785.4_Missense_Mutation_p.R327C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	327	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACCCTGTATCGTTTTGAGAA	0.507																																																	0													70.0	72.0	72.0					5																	82808152		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.979C>T	5.37:g.82808152C>T	ENSP00000265077:p.Arg327Cys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.R327C	ENST00000265077.3	37	c.979	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795745	0.90453	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	D;D;D;D;T;T;D	0.88354	-2.28;-2.08;-2.36;-2.37;3.08;2.78;-2.06	5.49	5.49	0.81192	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.53938	D	0.000044	D	0.95069	0.8403	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.992;1.0;0.996;0.989	D	0.95297	0.8400	10	0.72032	D	0.01	.	19.353	0.94398	0.0:1.0:0.0:0.0	.	327;327;327;327;327	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	C	327;327;327;279;327;327;327	ENSP00000265077:R327C;ENSP00000340062:R327C;ENSP00000342768:R327C;ENSP00000425959:R279C;ENSP00000426251:R327C;ENSP00000426715:R327C;ENSP00000421362:R327C	ENSP00000265077:R327C	R	+	1	0	VCAN	82843908	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.783000	0.55409	2.571000	0.86741	0.563000	0.77884	CGT	VCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000038427		0.507	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0.00	60	0	C	NM_004385		82808152	+1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	T
VCX3B	425054	genome.wustl.edu	37	X	8434032	8434032	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:8434032G>A	ENST00000381032.1	+	3	656	c.349G>A	c.(349-351)Gag>Aag	p.E117K	VCX3B_ENST00000444481.1_Missense_Mutation_p.E117K|VCX3B_ENST00000440654.2_Splice_Site|VCX3B_ENST00000453306.1_Missense_Mutation_p.E117K|VCX3B_ENST00000381029.4_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	117	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						ACTGAGTCAGGAGAGCGAGGT	0.632																																																	0													3.0	6.0	6.0					X																	8434032		621	2632	3253	SO:0001583	missense	0				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.349G>A	X.37:g.8434032G>A	ENSP00000370420:p.Glu117Lys		C9JS46|Q4KN12	Splice_Site	SNP	-	e2+1	ENST00000381032.1	37	c.348+1	CCDS48077.2	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.890|0.890	-0.725713|-0.725713	0.03158|0.03158	.|.	.|.	ENSG00000205642|ENSG00000205642	ENST00000440654|ENST00000381032;ENST00000453306;ENST00000444481	.|T;T;T	.|0.21543	.|2.0;2.0;2.0	0.669|0.669	-0.578|-0.578	0.11724|0.11724	.|.	.|.	.|.	.|.	.|.	.|T	.|0.11836	.|0.0288	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.16603	.|0.018;0.018	.|B;B	.|0.13407	.|0.009;0.009	.|T	.|0.32348	.|-0.9910	.|9	.|0.87932	.|D	.|0	.|.	1.5814|1.5814	0.02635|0.02635	0.2682:0.0:0.3892:0.3426|0.2682:0.0:0.3892:0.3426	.|.	.|117;117	.|Q9H321;E7ERZ8	.|VCX3B_HUMAN;.	.|K	-1|117	.|ENSP00000370420:E117K;ENSP00000411785:E117K;ENSP00000414780:E117K	.|ENSP00000370420:E117K	.|E	+|+	.|1	.|0	VCX3B|VCX3B	8394032|8394032	0.283000|0.283000	0.24277|0.24277	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.969000|0.969000	0.29370|0.29370	-0.220000|-0.220000	0.09988|0.09988	-0.791000|-0.791000	0.03333|0.03333	.|GAG	VCX3B	-	-	ENSG00000205642		0.632	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	HGNC	protein_coding	OTTHUMT00000055691.1	-	0.00	46	0	G			8434032	+1	tier1	-	no_errors	ENST00000440654	ensembl	human	known	74_37	splice_site	44.19	24	19	SNP	0.007	A
WASH3P	374666	genome.wustl.edu	37	15	102506815	102506816	+	RNA	DEL	CC	CC	-	rs151176585		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:102506815_102506816delCC	ENST00000557932.1	+	0	172							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						tacctctccacctggagcgcac	0.421																																																	0																																												0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506815_102506816delCC				RNA	DEL	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			WASH3P	-	-	ENSG00000185596		0.421	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1		0.00	14	0	CC	NM_199163		102506816	+1	tier1		no_errors	ENST00000559884	ensembl	human	known	74_37	rna	40.00	6	4	DEL	0.000:0.000	-
WHSC1L1	54904	genome.wustl.edu	37	8	38135883	38135883	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:38135883T>A	ENST00000317025.8	-	22	4325	c.3808A>T	c.(3808-3810)Aga>Tga	p.R1270*	WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.R1259*|RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.R1221*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1270	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CACTCCGTTCTGCCGTTGCCC	0.478			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													61.0	63.0	63.0					8																	38135883		1951	4163	6114	SO:0001587	stop_gained	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3808A>T	8.37:g.38135883T>A	ENSP00000313983:p.Arg1270*		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R1270*	ENST00000317025.8	37	c.3808	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	T	46	12.951322	0.99708	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	5.59	4.42	0.53409	.	0.000000	0.52532	U	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	11.6733	0.51415	0.0:0.0:0.282:0.718	.	.	.	.	X	1221;1270;1207;1259	.	ENSP00000313983:R1270X	R	-	1	2	WHSC1L1	38255040	0.998000	0.40836	0.959000	0.39883	0.994000	0.84299	2.808000	0.47963	0.941000	0.37499	0.477000	0.44152	AGA	WHSC1L1	-	smart_Post-SET_dom,pfscan_Post-SET_dom	ENSG00000147548		0.478	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	-	0.00	63	0	T	NM_023034		38135883	-1	tier1	-	no_errors	ENST00000317025	ensembl	human	known	74_37	nonsense	12.33	63	9	SNP	1.000	A
WISP2	8839	genome.wustl.edu	37	20	43356469	43356469	+	IGR	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr20:43356469T>C	ENST00000372868.2	+	0	1600				RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GTGTCAGGCCTGTGTTTTCTG	0.468																																																	0																																										SO:0001628	intergenic_variant	0			AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071		20.37:g.43356469T>C			B2R9N4|E1P612|Q6PEG3	RNA	SNP	-	NULL	ENST00000372868.2	37	NULL	CCDS13336.1	20																																																																																			WISP2	-	-	ENSG00000064205		0.468	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WISP2	HGNC	protein_coding	OTTHUMT00000127824.1	-	0.00	57	0	T	NM_003881		43356469	+1	tier1	-	no_errors	ENST00000471629	ensembl	human	known	74_37	rna	5.00	76	4	SNP	0.001	C
WWP2	11060	genome.wustl.edu	37	16	69967973	69967973	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:69967973T>C	ENST00000359154.2	+	17	1884	c.1783T>C	c.(1783-1785)Tcc>Ccc	p.S595P	WWP2_ENST00000448661.1_Missense_Mutation_p.S595P|WWP2_ENST00000356003.2_Missense_Mutation_p.S595P|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Missense_Mutation_p.S156P|WWP2_ENST00000542271.1_Missense_Mutation_p.S479P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	595	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAACCCCGCCTCCTCCATCAA	0.512																																																	0													143.0	138.0	140.0					16																	69967973		2198	4300	6498	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1783T>C	16.37:g.69967973T>C	ENSP00000352069:p.Ser595Pro		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.S595P	ENST00000359154.2	37	c.1783	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038335	0.93630	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.8	5.8	0.92144	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85534	0.1211	9	.	.	.	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	595	O00308	WWP2_HUMAN	P	595;156;595;595;482;479	ENSP00000352069:S595P;ENSP00000396871:S595P;ENSP00000348283:S595P;ENSP00000445616:S479P	.	S	+	1	0	WWP2	68525474	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.040000	0.89188	2.209000	0.71365	0.533000	0.62120	TCC	WWP2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198373		0.512	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	-	0.00	70	0	T	NM_007014		69967973	+1	tier1	-	no_errors	ENST00000356003	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C
TSIX	9383	genome.wustl.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																																	0										21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC				RNA	DEL	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.470	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1		0.00	11	0	AC	NR_003255		73047125	-1	tier1		no_errors	ENST00000429829	ensembl	human	known	74_37	rna	26.67	11	4	DEL	0.000:0.000	-
XPNPEP3	63929	genome.wustl.edu	37	22	41277988	41277988	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr22:41277988C>A	ENST00000357137.4	+	3	480	c.396C>A	c.(394-396)agC>agA	p.S132R	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.S132R|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.S109R|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.S132R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	132					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCCTGATAGCATTCTTGTCC	0.463																																					Ovarian(145;306 1841 7037 21878 30110)												0													149.0	129.0	136.0					22																	41277988		2203	4300	6503	SO:0001583	missense	0				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.396C>A	22.37:g.41277988C>A	ENSP00000349658:p.Ser132Arg		B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.S132R	ENST00000357137.4	37	c.396	CCDS14007.1	22	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109764	0.56398	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.7	3.62	0.41486	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	M	0.91038	3.17	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90589	0.4535	10	0.87932	D	0	.	12.4334	0.55586	0.0:0.8636:0.0:0.1364	.	132;132	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	R	132;132;132;109	ENSP00000443682:S132R;ENSP00000397110:S132R;ENSP00000349658:S132R;ENSP00000441942:S109R	ENSP00000349658:S132R	S	+	3	2	XPNPEP3	39607934	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	1.922000	0.40045	0.770000	0.33336	-0.261000	0.10672	AGC	XPNPEP3	-	pfam_Aminopep_P_N	ENSG00000196236		0.463	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP3	HGNC	protein_coding	OTTHUMT00000322201.2	-	0.00	49	0	C	NM_022098		41277988	+1	tier1	-	no_errors	ENST00000357137	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A
ZBBX	79740	genome.wustl.edu	37	3	167023731	167023731	+	Silent	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:167023731A>G	ENST00000392766.2	-	17	1765	c.1425T>C	c.(1423-1425)acT>acC	p.T475T	ZBBX_ENST00000455345.2_Silent_p.T475T|ZBBX_ENST00000392764.1_Silent_p.T446T|ZBBX_ENST00000392767.2_Silent_p.T475T|ZBBX_ENST00000307529.5_Silent_p.T475T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	475						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGTGTTTGAAGTTTCTGCTG	0.294																																																	0													38.0	33.0	35.0					3																	167023731		1806	4062	5868	SO:0001819	synonymous_variant	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1425T>C	3.37:g.167023731A>G			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	pfam_Znf_B-box	p.T475	ENST00000392766.2	37	c.1425	CCDS3199.2	3																																																																																			ZBBX	-	NULL	ENSG00000169064		0.294	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	-	0.00	57	0	A	NM_024687		167023731	-1	tier1	-	no_errors	ENST00000307529	ensembl	human	known	74_37	silent	30.36	39	17	SNP	0.003	G
ZBTB12	221527	genome.wustl.edu	37	6	31868782	31868782	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:31868782C>T	ENST00000375527.2	-	2	476	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	C2_ENST00000452323.2_5'UTR|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	101					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)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						AGGTAGTTGACGATGTCCCTA	0.577																																																	0													83.0	77.0	79.0					6																	31868782		2203	4300	6503	SO:0001583	missense	0			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.301G>A	6.37:g.31868782C>T	ENSP00000364677:p.Val101Ile		B0UY00|Q5JQ98	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V101I	ENST00000375527.2	37	c.301	CCDS4727.1	6	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936831	0.92458	.	.	ENSG00000204366	ENST00000375527	T	0.68479	-0.33	4.26	4.26	0.50523	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.076982	0.52532	U	0.000076	T	0.64735	0.2625	L	0.38838	1.175	0.54753	D	0.999986	D	0.76494	0.999	D	0.77004	0.989	T	0.62277	-0.6888	10	0.23302	T	0.38	.	15.4368	0.75152	0.0:1.0:0.0:0.0	.	101	Q9Y330	ZBT12_HUMAN	I	101	ENSP00000364677:V101I	ENSP00000364677:V101I	V	-	1	0	ZBTB12	31976761	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.893000	0.63199	1.913000	0.55393	0.530000	0.56133	GTC	ZBTB12	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000204366		0.577	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2		0.00	68	0	C	NM_181842		31868782	-1			no_errors	ENST00000375527	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
ZBTB43	23099	genome.wustl.edu	37	9	129595861	129595863	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:129595861_129595863delAAG	ENST00000373464.4	+	3	1337_1339	c.1073_1075delAAG	c.(1072-1077)aaagaa>aaa	p.E360del	ZBTB43_ENST00000373457.1_In_Frame_Del_p.E360del|ZBTB43_ENST00000449886.1_In_Frame_Del_p.E360del	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACAGGGATTAAAGAAGAAGCTTC	0.473																																																	0																																										SO:0001651	inframe_deletion	0			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1073_1075delAAG	9.37:g.129595867_129595869delAAG	ENSP00000362563:p.Glu360del		Q5JU96	In_Frame_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.E360in_frame_del	ENST00000373464.4	37	c.1073_1075	CCDS6867.1	9																																																																																			ZBTB43	-	NULL	ENSG00000169155		0.473	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1		0.00	19	0	AAG	NM_001135776		129595863	+1	tier1		no_errors	ENST00000373457	ensembl	human	known	74_37	in_frame_del	16.67	20	4	DEL	1.000:1.000:1.000	-
ZFAND4	93550	genome.wustl.edu	37	10	46113654	46113654	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:46113654T>G	ENST00000344646.5	-	9	2197	c.1982A>C	c.(1981-1983)aAg>aCg	p.K661T	ZFAND4_ENST00000374366.3_Missense_Mutation_p.K587T|ZFAND4_ENST00000374371.2_Missense_Mutation_p.E208D|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	661							zinc ion binding (GO:0008270)										TGTTGTTTTCTTCTTTGTCTG	0.433																																																	0													88.0	85.0	86.0					10																	46113654		2203	4300	6503	SO:0001583	missense	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1982A>C	10.37:g.46113654T>G	ENSP00000339484:p.Lys661Thr		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.K661T	ENST00000344646.5	37	c.1982	CCDS7214.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.10|17.10	3.302660|3.302660	0.60195|0.60195	.|.	.|.	ENSG00000172671|ENSG00000172671	ENST00000374371;ENST00000374376|ENST00000344646;ENST00000374366;ENST00000374370	T|T;T	0.50001|0.28666	0.76|1.6;1.61	5.99|5.99	5.99|5.99	0.97316|0.97316	.|Zinc finger, AN1-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37785|0.37785	0.1016|0.1016	L|L	0.55017|0.55017	1.72|1.72	0.80722|0.80722	D|D	1|1	P|B	0.52316|0.25390	0.952|0.125	P|B	0.46885|0.37091	0.53|0.241	T|T	0.17289|0.17289	-1.0374|-1.0374	9|10	0.48119|0.45353	T|T	0.1|0.12	-21.1519|-21.1519	14.4463|14.4463	0.67352|0.67352	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	208|661	Q5VVY4|Q86XD8	.|ANUB1_HUMAN	D|T	208|661;587;543	ENSP00000363491:E208D|ENSP00000339484:K661T;ENSP00000363486:K587T	ENSP00000363491:E208D|ENSP00000339484:K661T	E|K	-|-	3|2	2|0	ANUBL1|ANUBL1	45433660|45433660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.634000|0.634000	0.38068|0.38068	7.353000|7.353000	0.79414|0.79414	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	GAA|AAG	ZFAND4	-	NULL	ENSG00000172671		0.433	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	-	0.00	49	0	T	NM_174890		46113654	-1	tier1	-	no_errors	ENST00000344646	ensembl	human	known	74_37	missense	68.64	37	81	SNP	1.000	G
ZFC3H1	196441	genome.wustl.edu	37	12	72004484	72004484	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:72004484C>T	ENST00000378743.3	-	34	6181	c.5823G>A	c.(5821-5823)ctG>ctA	p.L1941L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1941					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCTTTCCACAGTGATGCAC	0.338																																																	0													81.0	72.0	75.0					12																	72004484		1838	4084	5922	SO:0001819	synonymous_variant	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5823G>A	12.37:g.72004484C>T			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.L1941	ENST00000378743.3	37	c.5823	CCDS41813.1	12																																																																																			ZFC3H1	-	smart_HAT	ENSG00000133858		0.338	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	-	0.00	26	0	C	NM_144982		72004484	-1	tier1	-	no_errors	ENST00000378743	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	T
ZFP28	140612	genome.wustl.edu	37	19	57066422	57066422	+	Silent	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:57066422T>G	ENST00000301318.3	+	8	2339	c.2268T>G	c.(2266-2268)ccT>ccG	p.P756P	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	756					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GAGAAAAACCTTATGAATGCA	0.398																																					Ovarian(124;554 1662 19430 21141 52494)												0													133.0	122.0	126.0					19																	57066422		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2268T>G	19.37:g.57066422T>G			A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P756	ENST00000301318.3	37	c.2268	CCDS12946.1	19																																																																																			ZFP28	-	pfscan_Znf_C2H2	ENSG00000196867		0.398	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	-	0.00	62	0	T	NM_020828		57066422	+1	tier1	-	no_errors	ENST00000301318	ensembl	human	known	74_37	silent	14.08	61	10	SNP	0.751	G
ZGPAT	84619	genome.wustl.edu	37	20	62364648	62364648	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr20:62364648G>T	ENST00000328969.5	+	3	789	c.662G>T	c.(661-663)gGc>gTc	p.G221V	ZGPAT_ENST00000355969.6_Missense_Mutation_p.G221V|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000357119.4_Missense_Mutation_p.G221V|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.A127S|ZGPAT_ENST00000369967.3_Missense_Mutation_p.G221V|ZGPAT_ENST00000448100.2_Missense_Mutation_p.G221V	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	221					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTGCAGGCCGGCTCTGCGTGT	0.687																																																	0													33.0	32.0	32.0					20																	62364648		2203	4300	6503	SO:0001583	missense	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.662G>T	20.37:g.62364648G>T	ENSP00000332013:p.Gly221Val		E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom	p.G221V	ENST00000328969.5	37	c.662	CCDS13534.1	20	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839361	0.91117	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	M	0.78637	2.42	0.80722	D	1	D;D;D	0.69078	0.987;0.99;0.997	P;P;D	0.66351	0.906;0.856;0.943	D	0.98003	1.0361	10	0.87932	D	0	-1.343	17.6358	0.88122	0.0:0.0:1.0:0.0	.	221;221;221	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	V	221	ENSP00000391176:G221V;ENSP00000348242:G221V;ENSP00000349634:G221V;ENSP00000358984:G221V;ENSP00000332013:G221V	ENSP00000332013:G221V	G	+	2	0	ZGPAT	61835092	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	8.881000	0.92415	2.599000	0.87857	0.591000	0.81541	GGC	ZGPAT	-	NULL	ENSG00000197114		0.687	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1		0.00	60	0	G	NM_181484		62364648	+1			no_errors	ENST00000328969	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
ZNF212	7988	genome.wustl.edu	37	7	148950858	148950858	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:148950858C>A	ENST00000335870.2	+	5	968	c.840C>A	c.(838-840)agC>agA	p.S280R		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GAGTTCCTAGCAGCAGCAGAA	0.557																																																	0													81.0	83.0	83.0					7																	148950858		2203	4300	6503	SO:0001583	missense	0			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.840C>A	7.37:g.148950858C>A	ENSP00000338572:p.Ser280Arg		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S280R	ENST00000335870.2	37	c.840	CCDS5896.1	7	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245099	0.22796	.	.	ENSG00000170260	ENST00000335870	T	0.07327	3.2	5.52	3.45	0.39498	.	0.920237	0.09278	N	0.824212	T	0.05410	0.0143	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.37197	-0.9716	10	0.11485	T	0.65	-1.8927	7.9206	0.29843	0.0:0.7355:0.1681:0.0964	.	280	Q9UDV6	ZN212_HUMAN	R	280	ENSP00000338572:S280R	ENSP00000338572:S280R	S	+	3	2	ZNF212	148581791	0.003000	0.15002	0.027000	0.17364	0.005000	0.04900	-0.007000	0.12810	2.595000	0.87683	0.655000	0.94253	AGC	ZNF212	-	NULL	ENSG00000170260		0.557	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF212	HGNC	protein_coding	OTTHUMT00000352710.1	-	0.00	48	0	C	NM_012256		148950858	+1	tier1	-	no_errors	ENST00000335870	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.002	A
ZNF408	79797	genome.wustl.edu	37	11	46726045	46726045	+	Silent	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:46726045C>T	ENST00000311764.2	+	5	1025	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGAGGAATGCCCGGCCCAGG	0.577																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													81.0	66.0	71.0					11																	46726045		2201	4299	6500	SO:0001819	synonymous_variant	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.795C>T	11.37:g.46726045C>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C265	ENST00000311764.2	37	c.795	CCDS7923.1	11																																																																																			ZNF408	-	NULL	ENSG00000175213		0.577	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2		0.00	36	0	C	NM_024741		46726045	+1			no_errors	ENST00000311764	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.015	T
ZNF425	155054	genome.wustl.edu	37	7	148801692	148801692	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:148801692C>T	ENST00000378061.2	-	4	1403	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	424					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTCTTGAGGCGGAAACTTTT	0.552																																																	0													61.0	64.0	63.0					7																	148801692		2203	4300	6503	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1271G>A	7.37:g.148801692C>T	ENSP00000367300:p.Arg424His		B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R424H	ENST00000378061.2	37	c.1271	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256665	0.59321	.	.	ENSG00000204947	ENST00000378061	T	0.07567	3.18	3.57	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08223	0.0205	L	0.58925	1.835	0.09310	N	1	P	0.42584	0.784	B	0.35971	0.215	T	0.25641	-1.0126	9	0.22109	T	0.4	.	8.78	0.34785	0.0:0.884:0.0:0.116	.	424	Q6IV72	ZN425_HUMAN	H	424	ENSP00000367300:R424H	ENSP00000367300:R424H	R	-	2	0	ZNF425	148432625	.	.	0.571000	0.28486	0.925000	0.55904	.	.	0.841000	0.35020	0.655000	0.94253	CGC	ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.552	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0.00	57	0	C	XM_088140		148801692	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	28.57	45	18	SNP	0.048	T
ZNF469	84627	genome.wustl.edu	37	16	88500218	88500218	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:88500218G>A	ENST00000437464.1	+	2	6256	c.6256G>A	c.(6256-6258)Gcc>Acc	p.A2086T	ZNF469_ENST00000565624.1_Missense_Mutation_p.A2114T	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	2086					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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GGCCGCCTGCGCCCCCTCACC	0.711																																																	0													4.0	6.0	5.0					16																	88500218		649	1539	2188	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.6256G>A	16.37:g.88500218G>A	ENSP00000402343:p.Ala2086Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A2086T	ENST00000437464.1	37	c.6256	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	G	9.919	1.211623	0.22289	.	.	ENSG00000225614	ENST00000437464	T	0.09817	2.94	4.0	-3.36	0.04913	.	.	.	.	.	T	0.03390	0.0098	N	0.03608	-0.345	0.09310	N	1	B	0.18610	0.029	B	0.09377	0.004	T	0.44559	-0.9320	9	0.18710	T	0.47	.	4.9618	0.14070	0.399:0.1466:0.4544:0.0	.	2086	Q96JG9	ZN469_HUMAN	T	2086	ENSP00000402343:A2086T	ENSP00000402343:A2086T	A	+	1	0	ZNF469	87027719	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.038000	0.01419	-0.883000	0.03982	-0.140000	0.14226	GCC	ZNF469	-	NULL	ENSG00000225614		0.711	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding			0.00	17	0	G	NG_012236		88500218	+1			no_errors	ENST00000437464	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.000	A
ZNF558	148156	genome.wustl.edu	37	19	8932677	8932677	+	Splice_Site	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:8932677A>G	ENST00000601372.1	-	6	832		c.e6+1		ZNF558_ENST00000444186.2_5'Flank|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000301475.1_Splice_Site			Q96NG5	ZN558_HUMAN	zinc finger protein 558						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CATCTGACTCACCCGTAGCCA	0.542																																																	0													193.0	174.0	180.0					19																	8932677		2203	4300	6503	SO:0001630	splice_region_variant	0			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.120+1T>C	19.37:g.8932677A>G			A8K5F0|B7Z798	Splice_Site	SNP	-	e2+2	ENST00000601372.1	37	c.120+2	CCDS12208.1	19	.	.	.	.	.	.	.	.	.	.	A	6.558	0.471311	0.12461	.	.	ENSG00000167785	ENST00000301475	.	.	.	3.24	1.08	0.20341	.	.	.	.	.	.	.	.	.	.	.	0.49687	D	0.999814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7525	0.05285	0.6516:0.0:0.1271:0.2213	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF558	8793677	1.000000	0.71417	0.709000	0.30452	0.008000	0.06430	1.873000	0.39558	0.152000	0.19188	-0.353000	0.07706	.	ZNF558	-	-	ENSG00000167785		0.542	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	HGNC	protein_coding	OTTHUMT00000459955.2		0.00	75	0	A	NM_144693	Intron	8932677	-1			no_errors	ENST00000301475	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	0.721	G
ZNF493	284443	genome.wustl.edu	37	19	21606380	21606380	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:21606380A>C	ENST00000355504.4	+	2	801	c.535A>C	c.(535-537)Acc>Ccc	p.T179P	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.T307P	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCAATCTTCAACCCTTACTGG	0.328																																																	0													46.0	48.0	47.0					19																	21606380		2203	4296	6499	SO:0001583	missense	0			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.535A>C	19.37:g.21606380A>C	ENSP00000347691:p.Thr179Pro		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T179P	ENST00000355504.4	37	c.535	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	1.523	-0.546369	0.04024	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.15603	2.41;2.41	0.985	-1.97	0.07503	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20007	0.0481	L	0.31120	0.905	0.18873	N	0.999989	D;D	0.69078	0.997;0.995	D;P	0.70935	0.971;0.77	T	0.12451	-1.0547	9	0.33141	T	0.24	.	2.8179	0.05463	0.3429:0.267:0.3902:0.0	.	179;307	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	P	307;179	ENSP00000376110:T307P;ENSP00000347691:T179P	ENSP00000347691:T179P	T	+	1	0	ZNF493	21398220	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-4.429000	0.00235	-0.797000	0.04450	-0.836000	0.03065	ACC	ZNF493	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196268		0.328	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	-	0.00	47	0	A	NM_175910		21606380	+1	tier1	-	no_errors	ENST00000355504	ensembl	human	known	74_37	missense	27.91	30	12	SNP	0.068	C
ZNF598	90850	genome.wustl.edu	37	16	2052579	2052579	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:2052579C>T	ENST00000563630.1	-	4	697	c.455G>A	c.(454-456)cGc>cAc	p.R152H	ZNF598_ENST00000431526.1_Missense_Mutation_p.R207H|ZNF598_ENST00000562103.1_Missense_Mutation_p.R152H			Q86UK7	ZN598_HUMAN	zinc finger protein 598	207							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GTGGTCGCGGCGCAGGTGCTT	0.632																																																	0													61.0	68.0	66.0					16																	2052579		2158	4262	6420	SO:0001583	missense	0			BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.455G>A	16.37:g.2052579C>T	ENSP00000455882:p.Arg152His		Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING	p.R207H	ENST00000563630.1	37	c.620		16	.	.	.	.	.	.	.	.	.	.	.	24.1	4.498083	0.85069	.	.	ENSG00000167962	ENST00000431526	T	0.32753	1.44	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69472	-0.5136	10	0.62326	D	0.03	-26.9944	17.216	0.86944	0.0:1.0:0.0:0.0	.	207	Q86UK7	ZN598_HUMAN	H	207	ENSP00000411409:R207H	ENSP00000411409:R207H	R	-	2	0	ZNF598	1992580	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.381000	0.79718	2.310000	0.77875	0.561000	0.74099	CGC	ZNF598	-	smart_Znf_C2H2-like	ENSG00000167962		0.632	ZNF598-001	NOVEL	basic	protein_coding	ZNF598	HGNC	protein_coding	OTTHUMT00000434439.1	-	0.00	24	0	C	NM_178167		2052579	-1	tier1	-	no_errors	ENST00000431526	ensembl	human	known	74_37	missense	23.81	31	10	SNP	1.000	T
ZNF628	89887	genome.wustl.edu	37	19	55994931	55994931	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:55994931G>C	ENST00000598519.1	+	3	2924	c.2371G>C	c.(2371-2373)Ggg>Cgg	p.G791R	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.G787R|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	791	Gly-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GGCCAGCGCTGGGGCCAGCGG	0.721																																																	0													15.0	21.0	19.0					19																	55994931		2171	4255	6426	SO:0001583	missense	0			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2371G>C	19.37:g.55994931G>C	ENSP00000469591:p.Gly791Arg		Q86X34	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G791R	ENST00000598519.1	37	c.2371	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	9.161	1.018820	0.19355	.	.	ENSG00000197483	ENST00000391718	T	0.06687	3.27	3.71	2.67	0.31697	.	1.282590	0.06063	U	0.658739	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20338	-1.0278	10	0.87932	D	0	-11.4184	6.4282	0.21782	0.1334:0.0:0.8666:0.0	.	787	Q5EBL2	ZN628_HUMAN	R	787	ENSP00000375598:G787R	ENSP00000375598:G787R	G	+	1	0	ZNF628	60686743	0.000000	0.05858	0.118000	0.21660	0.186000	0.23388	0.008000	0.13197	2.068000	0.61886	0.462000	0.41574	GGG	ZNF628	-	NULL	ENSG00000197483		0.721	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	-	0.00	51	0	G	XM_058964		55994931	+1	tier1	-	no_errors	ENST00000598519	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.023	C
ZNF716	441234	genome.wustl.edu	37	7	57529385	57529385	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:57529385A>C	ENST00000420713.1	+	4	1330	c.1218A>C	c.(1216-1218)aaA>aaC	p.K406N		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	406					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)|kidney(1)|lung(20)|ovary(2)	24						CTGGAGAGAAACCCTACAAAT	0.398																																																	0													28.0	29.0	29.0					7																	57529385		692	1591	2283	SO:0001583	missense	0			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1218A>C	7.37:g.57529385A>C	ENSP00000394248:p.Lys406Asn			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.K406N	ENST00000420713.1	37	c.1218	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	A	7.613	0.675127	0.14841	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.26067	1.76	0.195	0.195	0.15151	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26521	0.0648	M	0.85777	2.775	0.27028	N	0.964305	P	0.42973	0.796	B	0.35312	0.2	T	0.26189	-1.0110	9	0.66056	D	0.02	.	4.8229	0.13400	0.9998:0.0:2.0E-4:0.0	.	394	A6NP11	ZN716_HUMAN	N	406;394	ENSP00000394248:K406N	ENSP00000387687:K394N	K	+	3	2	ZNF716	57533327	0.000000	0.05858	0.066000	0.19879	0.067000	0.16453	-0.307000	0.08167	0.257000	0.21650	0.254000	0.18369	AAA	ZNF716	-	pfscan_Znf_C2H2	ENSG00000182111		0.398	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	-	0.00	40	0	A	NM_001159279		57529385	+1	tier1	-	no_errors	ENST00000420713	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.995	C
ZNF729	100287226	genome.wustl.edu	37	19	22497392	22497392	+	Silent	SNP	T	T	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:22497392T>G	ENST00000601693.1	+	4	1291	c.1173T>G	c.(1171-1173)ctT>ctG	p.L391L	ZNF729_ENST00000357491.6_Silent_p.L391L			A6NN14	ZN729_HUMAN	zinc finger protein 729	391					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						CTTCAAAACTTACTGTACATA	0.368																																																	0																																										SO:0001819	synonymous_variant	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.1173T>G	19.37:g.22497392T>G			M0QY45	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L391	ENST00000601693.1	37	c.1173	CCDS59368.1	19																																																																																			ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.368	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	-	0.00	78	0	T	XM_496301		22497392	+1	tier1	-	no_errors	ENST00000601693	ensembl	human	novel	74_37	silent	9.43	48	5	SNP	0.002	G
ZNF804B	219578	genome.wustl.edu	37	7	88963087	88963087	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:88963087A>T	ENST00000333190.4	+	4	1400	c.791A>T	c.(790-792)aAg>aTg	p.K264M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	264							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATAAGTGCAAGTGCTGCAGG	0.373										HNSCC(36;0.09)																																							0													73.0	69.0	70.0					7																	88963087		2203	4299	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.791A>T	7.37:g.88963087A>T	ENSP00000329638:p.Lys264Met		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K264M	ENST00000333190.4	37	c.791	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	6.227	0.410089	0.11812	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	5.04	2.65	0.31530	.	0.426528	0.22226	N	0.062900	T	0.03915	0.0110	L	0.38838	1.175	0.09310	N	1	P	0.35077	0.483	B	0.21546	0.035	T	0.41360	-0.9513	10	0.49607	T	0.09	-1.1353	3.0197	0.06071	0.6327:0.1438:0.0746:0.1489	.	264	A4D1E1	Z804B_HUMAN	M	264	ENSP00000329638:K264M	ENSP00000329638:K264M	K	+	2	0	ZNF804B	88801023	0.025000	0.19082	0.823000	0.32752	0.663000	0.39108	0.430000	0.21428	0.397000	0.25310	0.533000	0.62120	AAG	ZNF804B	-	NULL	ENSG00000182348		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	23	0	A	NM_181646		88963087	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	74.55	14	41	SNP	0.009	T
ZNF99	7652	genome.wustl.edu	37	19	22952779	22952779	+	Intron	SNP	A	A	G			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:22952779A>G	ENST00000596209.1	-	2	94				ZNF99_ENST00000397104.3_Silent_p.S2S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAGACCAAAAAGACATGTTGA	0.279																																																	0													66.0	66.0	66.0					19																	22952779		1815	4061	5876	SO:0001627	intron_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.4-653T>C	19.37:g.22952779A>G			M0R335	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S2	ENST00000596209.1	37	c.6	CCDS59369.1	19																																																																																			ZNF99	-	NULL	ENSG00000213973		0.279	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0.00	74	0	A	XM_065124		22952779	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	silent	18.97	47	11	SNP	0.017	G
