#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA6	23460	genome.wustl.edu	37	17	67081246	67081246	+	Silent	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr17:67081246C>T	ENST00000284425.2	-	32	4281	c.4107G>A	c.(4105-4107)ctG>ctA	p.L1369L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1369	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCCTCAACGTCAGCATGGGCC	0.557																																						dbGAP											0													56.0	41.0	46.0					17																	67081246		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4107G>A	17.37:g.67081246C>T			Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1369	ENST00000284425.2	37	c.4107	CCDS11683.1	17																																																																																			ABCA6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154262		0.557	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	42	0.00	0	C	NM_080284		67081246	67081246	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	silent	19	17.39	4	SNP	1.000	T
ACIN1	22985	genome.wustl.edu	37	14	23564377	23564377	+	Missense_Mutation	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr14:23564377C>A	ENST00000262710.1	-	1	446	c.119G>T	c.(118-120)cGg>cTg	p.R40L	ACIN1_ENST00000457657.1_Missense_Mutation_p.R40L|C14orf119_ENST00000319074.4_5'UTR|C14orf119_ENST00000554203.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.R40L|ACIN1_ENST00000605057.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	40					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGGTAATTTCCGCCAACGCCC	0.617																																						dbGAP											0													66.0	65.0	65.0					14																	23564377		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.119G>T	14.37:g.23564377C>A	ENSP00000262710:p.Arg40Leu		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R40L	ENST00000262710.1	37	c.119	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.135406	0.94517	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.28255	1.85;1.62;1.84	5.45	5.45	0.79879	.	0.000000	0.32952	N	0.005443	T	0.36908	0.0984	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.46034	-0.9220	10	0.87932	D	0	-10.5422	16.3082	0.82856	0.0:1.0:0.0:0.0	.	40;40	G3V3M7;Q9UKV3	.;ACINU_HUMAN	L	40	ENSP00000262710:R40L;ENSP00000405677:R40L;ENSP00000451328:R40L	ENSP00000262710:R40L	R	-	2	0	ACIN1	22634217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.487000	0.66863	2.837000	0.97791	0.591000	0.81541	CGG	ACIN1	-	NULL	ENSG00000100813		0.617	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	28	0.00	0	C	NM_014977		23564377	23564377	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	A
ADAMTS19	171019	genome.wustl.edu	37	5	129040064	129040064	+	Nonsense_Mutation	SNP	C	C	T	rs571986172		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr5:129040064C>T	ENST00000274487.4	+	21	3419	c.3274C>T	c.(3274-3276)Cga>Tga	p.R1092*	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1092	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTATGTGTGGCGAATGGGTGA	0.448													C|||	0	0.0	0.0	0.0	5008	,	,		19146	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													166.0	143.0	151.0					5																	129040064		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3274C>T	5.37:g.129040064C>T	ENSP00000274487:p.Arg1092*			Nonsense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1092*	ENST00000274487.4	37	c.3274	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	42	9.500585	0.99189	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.29	2.36	0.29203	.	0.088256	0.41938	D	0.000793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4826	0.55852	0.6816:0.3184:0.0:0.0	.	.	.	.	X	1092	.	.	R	+	1	2	ADAMTS19	129067963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.347000	0.44036	0.648000	0.30732	0.655000	0.94253	CGA	ADAMTS19	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.448	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	37	0.00	0	C	NM_133638		129040064	129040064	+1	no_errors	ENST00000274487	ensembl	human	known	69_37n	nonsense	33	29.79	14	SNP	1.000	T
ADAM19	8728	genome.wustl.edu	37	5	156957818	156957818	+	Missense_Mutation	SNP	A	A	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr5:156957818A>G	ENST00000517905.1	-	5	448	c.404T>C	c.(403-405)aTt>aCt	p.I135T	ADAM19_ENST00000257527.4_Missense_Mutation_p.I135T|ADAM19_ENST00000394020.1_Missense_Mutation_p.I137T|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	135					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTTACCTAATTCCTCGGCA	0.562																																						dbGAP											0													99.0	81.0	87.0					5																	156957818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.404T>C	5.37:g.156957818A>G	ENSP00000428654:p.Ile135Thr		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.I137T	ENST00000517905.1	37	c.410		5	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199352	0.79015	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.08370	3.1;3.1;3.1	5.31	5.31	0.75309	.	0.372224	0.26528	N	0.023880	T	0.11410	0.0278	M	0.62088	1.915	0.41734	D	0.989579	B	0.32071	0.355	B	0.29785	0.107	T	0.02109	-1.1212	10	0.87932	D	0	.	11.9419	0.52905	1.0:0.0:0.0:0.0	.	135	Q9H013-2	.	T	135;137;135	ENSP00000257527:I135T;ENSP00000377588:I137T;ENSP00000428654:I135T	ENSP00000257527:I135T	I	-	2	0	ADAM19	156890396	0.997000	0.39634	0.995000	0.50966	0.952000	0.60782	2.814000	0.48010	2.131000	0.65755	0.533000	0.62120	ATT	ADAM19	-	pfam_Peptidase_M12B_N	ENSG00000135074		0.562	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	31	0.00	0	A	NM_033274		156957818	156957818	-1	no_errors	ENST00000394020	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	0.984	G
ADAMTS2	9509	genome.wustl.edu	37	5	178552030	178552030	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr5:178552030G>A	ENST00000251582.7	-	19	3003	c.2902C>T	c.(2902-2904)Cgg>Tgg	p.R968W		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	968	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGCAGGCCCGGCGGCTCTCG	0.687																																						dbGAP											0													41.0	47.0	45.0					5																	178552030		2200	4297	6497	-	-	-	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2902C>T	5.37:g.178552030G>A	ENSP00000251582:p.Arg968Trp			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R968W	ENST00000251582.7	37	c.2902	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267158	0.80469	.	.	ENSG00000087116	ENST00000251582	T	0.56776	0.44	5.31	3.38	0.38709	.	0.000000	0.52532	D	0.000074	T	0.80969	0.4726	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86203	0.1620	10	0.87932	D	0	.	11.5898	0.50939	0.0:0.0:0.4793:0.5207	.	968	O95450	ATS2_HUMAN	W	968	ENSP00000251582:R968W	ENSP00000251582:R968W	R	-	1	2	ADAMTS2	178484636	0.893000	0.30496	1.000000	0.80357	0.999000	0.98932	0.796000	0.26986	1.211000	0.43351	0.655000	0.94253	CGG	ADAMTS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000087116		0.687	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	22	0.00	0	G	NM_014244		178552030	178552030	-1	no_errors	ENST00000251582	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	A
ADGB	79747	genome.wustl.edu	37	6	147122985	147122985	+	Silent	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr6:147122985G>A	ENST00000397944.3	+	35	4732	c.4656G>A	c.(4654-4656)ctG>ctA	p.L1552L	ADGB_ENST00000367493.3_3'UTR|ADGB_ENST00000367488.1_3'UTR|KATNBL1P6_ENST00000562413.2_RNA	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	1552					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						CAGATCCTCTGCTGCAAACAG	0.383																																						dbGAP											0													77.0	74.0	75.0					6																	147122985		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.4656G>A	6.37:g.147122985G>A			Q5T402|Q5T904|Q5T905	Silent	SNP	pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat	p.L1552	ENST00000397944.3	37	c.4656		6																																																																																			ADGB	-	NULL	ENSG00000118492		0.383	ADGB-009	KNOWN	basic|appris_principal	protein_coding	ADGB	HGNC	protein_coding	OTTHUMT00000376350.2	27	0.00	0	G	NM_024694		147122985	147122985	+1	no_errors	ENST00000397944	ensembl	human	known	69_37n	silent	19	29.63	8	SNP	0.030	A
ARHGEF6	9459	genome.wustl.edu	37	X	135767916	135767916	+	Missense_Mutation	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chrX:135767916C>G	ENST00000250617.6	-	12	2517	c.1312G>C	c.(1312-1314)Gca>Cca	p.A438P	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.A311P|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.A284P|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.A284P	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	438					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CCTTCCCATGCCTGAATAGGT	0.398																																						dbGAP											0													164.0	131.0	142.0					X																	135767916		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1312G>C	X.37:g.135767916C>G	ENSP00000250617:p.Ala438Pro		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.A438P	ENST00000250617.6	37	c.1312	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	c	10.21	1.287748	0.23478	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.36	3.56	0.40772	Pleckstrin homology-type (1);	0.251403	0.45606	N	0.000348	T	0.34513	0.0900	L	0.40543	1.245	0.32568	N	0.530163	B;B	0.30709	0.291;0.273	B;B	0.31442	0.13;0.124	T	0.44636	-0.9315	10	0.66056	D	0.02	.	10.9339	0.47235	0.1283:0.6005:0.2712:0.0	.	311;438	B7Z3C7;Q15052	.;ARHG6_HUMAN	P	438;284;284;284;311	ENSP00000250617:A438P;ENSP00000359654:A284P;ENSP00000359656:A284P;ENSP00000439483:A311P	ENSP00000250617:A438P	A	-	1	0	ARHGEF6	135595582	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	3.387000	0.52501	0.447000	0.26695	-0.371000	0.07208	GCA	ARHGEF6	-	NULL	ENSG00000129675		0.398	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	127	0.00	0	C	NM_004840		135767916	135767916	-1	no_errors	ENST00000250617	ensembl	human	known	69_37n	missense	75	16.67	15	SNP	1.000	G
BAI1	575	genome.wustl.edu	37	8	143561149	143561149	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr8:143561149G>A	ENST00000517894.1	+	9	2716	c.1822G>A	c.(1822-1824)Gcc>Acc	p.A608T	BAI1_ENST00000323289.5_Missense_Mutation_p.A608T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	608					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCCCGCAACGCCACAGGTGA	0.647																																						dbGAP											0													65.0	76.0	72.0					8																	143561149		2130	4217	6347	-	-	-	SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1822G>A	8.37:g.143561149G>A	ENSP00000430945:p.Ala608Thr			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.A608T	ENST00000517894.1	37	c.1822		8	.	.	.	.	.	.	.	.	.	.	g	20.2	3.945776	0.73672	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.27557	1.66;1.66	4.67	4.67	0.58626	.	0.000000	0.64402	U	0.000001	T	0.55924	0.1951	M	0.77103	2.36	0.49389	D	0.999789	D	0.89917	1.0	D	0.71656	0.974	T	0.58267	-0.7666	10	0.40728	T	0.16	.	16.5456	0.84444	0.0:0.0:1.0:0.0	.	608	E9PBK0	.	T	608	ENSP00000430945:A608T;ENSP00000313046:A608T	ENSP00000313046:A608T	A	+	1	0	BAI1	143558151	1.000000	0.71417	0.979000	0.43373	0.148000	0.21650	9.133000	0.94460	2.162000	0.67917	0.306000	0.20318	GCC	BAI1	-	smart_GPCR_2_extracellular_dom,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2_extracellular_dom	ENSG00000181790		0.647	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	43	0.00	0	G	NM_001702		143561149	143561149	+1	no_errors	ENST00000323289	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	A
BEND2	139105	genome.wustl.edu	37	X	18221806	18221806	+	Missense_Mutation	SNP	G	G	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chrX:18221806G>C	ENST00000380033.4	-	5	854	c.722C>G	c.(721-723)gCt>gGt	p.A241G	BEND2_ENST00000380030.3_Missense_Mutation_p.A241G	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	241										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGTACTTTCAGCACCTCCACT	0.453																																						dbGAP											0													170.0	135.0	147.0					X																	18221806		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.722C>G	X.37:g.18221806G>C	ENSP00000369372:p.Ala241Gly		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	pfam_BEN_domain	p.A241G	ENST00000380033.4	37	c.722	CCDS14184.1	X	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360622	0.41801	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.26660	1.76;1.72	3.7	-0.201	0.13212	.	1.381260	0.06189	U	0.680954	T	0.17959	0.0431	N	0.12182	0.205	0.09310	N	1	P;D	0.55172	0.948;0.97	B;P	0.51297	0.431;0.665	T	0.11446	-1.0587	10	0.24483	T	0.36	-1.2721	2.7255	0.05212	0.371:0.0:0.419:0.21	.	241;241	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	G	241	ENSP00000369372:A241G;ENSP00000369369:A241G	ENSP00000369369:A241G	A	-	2	0	BEND2	18131727	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.178000	0.09782	-0.048000	0.13401	0.292000	0.19580	GCT	BEND2	-	NULL	ENSG00000177324		0.453	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	54	0.00	0	G	NM_153346		18221806	18221806	-1	no_errors	ENST00000380033	ensembl	human	known	69_37n	missense	32	39.62	21	SNP	0.000	C
BTNL3	10917	genome.wustl.edu	37	5	180429676	180429676	+	Silent	SNP	G	G	A	rs371607835		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr5:180429676G>A	ENST00000342868.6	+	4	862	c.678G>A	c.(676-678)acG>acA	p.T226T		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	226						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTTCAGAGACGTTTTTCCAGC	0.463																																						dbGAP											0													139.0	111.0	120.0					5																	180429676		1870	3780	5650	-	-	-	SO:0001819	synonymous_variant	0			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.678G>A	5.37:g.180429676G>A			Q496L7|Q9Y2C7	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.T226	ENST00000342868.6	37	c.678	CCDS47358.1	5																																																																																			BTNL3	-	NULL	ENSG00000168903		0.463	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTNL3	HGNC	protein_coding	OTTHUMT00000367176.2	88	0.00	0	G	NM_197975		180429676	180429676	+1	no_errors	ENST00000342868	ensembl	human	known	69_37n	silent	111	15.91	21	SNP	0.000	A
BVES	11149	genome.wustl.edu	37	6	105581324	105581324	+	Silent	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr6:105581324C>A	ENST00000314641.5	-	2	345	c.129G>T	c.(127-129)ctG>ctT	p.L43L	BVES_ENST00000446408.2_Silent_p.L43L|BVES-AS1_ENST00000580511.1_RNA|BVES_ENST00000336775.5_Silent_p.L43L	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	43					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CATGAAAAACCAGATGATGTA	0.373																																						dbGAP											0													122.0	117.0	119.0					6																	105581324		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.129G>T	6.37:g.105581324C>A			A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.L43	ENST00000314641.5	37	c.129	CCDS5051.1	6																																																																																			BVES	-	NULL	ENSG00000112276		0.373	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	HGNC	protein_coding	OTTHUMT00000406075.1	63	0.00	0	C	NM_147147		105581324	105581324	-1	no_errors	ENST00000314641	ensembl	human	known	69_37n	silent	51	20.31	13	SNP	0.993	A
BZW2	28969	genome.wustl.edu	37	7	16744257	16744257	+	Missense_Mutation	SNP	G	G	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:16744257G>T	ENST00000433922.2	+	11	1372	c.1194G>T	c.(1192-1194)atG>atT	p.M398I	AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000407633.1_Missense_Mutation_p.M204I|BZW2_ENST00000258761.3_Missense_Mutation_p.M398I|BZW2_ENST00000405202.1_Missense_Mutation_p.M322I	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	398	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTGACCAGATGAAGAAATTTG	0.333																																						dbGAP											0													105.0	109.0	107.0					7																	16744257		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.1194G>T	7.37:g.16744257G>T	ENSP00000397249:p.Met398Ile		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.M398I	ENST00000433922.2	37	c.1194	CCDS5362.1	7	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996520	0.93167	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.74	5.74	0.90152	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89581	0.6756	L	0.60845	1.875	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	D	0.87972	0.2737	10	0.42905	T	0.14	-0.5387	19.9253	0.97100	0.0:0.0:1.0:0.0	.	398	Q9Y6E2	BZW2_HUMAN	I	398;398;398;322;204	ENSP00000403481:M398I;ENSP00000258761:M398I;ENSP00000397249:M398I;ENSP00000385577:M322I;ENSP00000384617:M204I	ENSP00000258761:M398I	M	+	3	0	BZW2	16710782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.692000	0.91855	0.650000	0.86243	ATG	BZW2	-	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	ENSG00000136261		0.333	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	77	0.00	0	G	NM_014038		16744257	16744257	+1	no_errors	ENST00000258761	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	1.000	T
ADM5	199800	genome.wustl.edu	37	19	50193508	50193508	+	Missense_Mutation	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr19:50193508C>G	ENST00000420022.3	+	2	1394	c.220C>G	c.(220-222)Ccc>Gcc	p.P74A	CPT1C_ENST00000323446.5_5'Flank|CPT1C_ENST00000598293.1_5'Flank|CTB-33G10.6_ENST00000596472.1_RNA|CPT1C_ENST00000392518.4_5'Flank|CPT1C_ENST00000405931.2_5'Flank|CPT1C_ENST00000354199.5_5'Flank	NM_001101340.1	NP_001094810.1	C9JUS6	ADM5_HUMAN	adrenomedullin 5 (putative)	74						extracellular region (GO:0005576)											AGCCCCAGGACCCCTACAGCT	0.701																																						dbGAP											0													8.0	10.0	10.0					19																	50193508		1802	3880	5682	-	-	-	SO:0001583	missense	0			BC032764	CCDS46146.1	19q13.33	2012-12-07	2012-12-07	2012-10-29	ENSG00000224420	ENSG00000224420			27293	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 76"", ""adrenomedullin 5 homolog (pig)"""	C19orf76		18434369	Standard	NM_001101340		Approved	AM5	uc002pph.2	C9JUS6		ENST00000420022.3:c.220C>G	19.37:g.50193508C>G	ENSP00000393631:p.Pro74Ala			Missense_Mutation	SNP	NULL	p.P74A	ENST00000420022.3	37	c.220	CCDS46146.1	19	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154396	0.38021	.	.	ENSG00000224420	ENST00000420022	.	.	.	2.14	1.05	0.20165	.	.	.	.	.	T	0.19565	0.0470	N	0.08118	0	0.22081	N	0.999374	P	0.45715	0.865	P	0.48795	0.59	T	0.09729	-1.0661	8	0.87932	D	0	.	4.2064	0.10490	0.0:0.7762:0.0:0.2238	.	74	C9JUS6	ADM5_HUMAN	A	74	.	ENSP00000393631:P74A	P	+	1	0	C19orf76	54885320	0.007000	0.16637	0.985000	0.45067	0.145000	0.21501	0.620000	0.24403	0.430000	0.26230	0.455000	0.32223	CCC	C19orf76	-	NULL	ENSG00000224420		0.701	ADM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf76	HGNC	protein_coding	OTTHUMT00000465777.1	21	0.00	0	C	NM_001101340		50193508	50193508	+1	no_errors	ENST00000420022	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.986	G
C3AR1	719	genome.wustl.edu	37	12	8212311	8212311	+	Silent	SNP	C	C	A	rs142478022		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr12:8212311C>A	ENST00000307637.4	-	2	674	c.471G>T	c.(469-471)gtG>gtT	p.V157V		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	157					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GGTACACGAACACAGGAATGC	0.438																																						dbGAP											0													194.0	159.0	171.0					12																	8212311		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.471G>T	12.37:g.8212311C>A			O43771|Q92868	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_C3A_anaphtx_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Frt_met_rcpt,prints_C5A_anaphtx_rcpt	p.V157	ENST00000307637.4	37	c.471	CCDS8588.1	12																																																																																			C3AR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt	ENSG00000171860		0.438	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	HGNC	protein_coding	OTTHUMT00000400254.1	69	0.00	0	C			8212311	8212311	-1	no_errors	ENST00000307637	ensembl	human	known	69_37n	silent	53	18.46	12	SNP	0.979	A
CACNA1F	778	genome.wustl.edu	37	X	49074448	49074448	+	Missense_Mutation	SNP	A	A	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chrX:49074448A>T	ENST00000376265.2	-	25	3039	c.2978T>A	c.(2977-2979)gTa>gAa	p.V993E	CACNA1F_ENST00000376251.1_Missense_Mutation_p.V928E|CACNA1F_ENST00000323022.5_Missense_Mutation_p.V982E	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	993					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCACAAATACACACTGCAC	0.537																																						dbGAP											0													119.0	79.0	92.0					X																	49074448		2202	4300	6502	-	-	-	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2978T>A	X.37:g.49074448A>T	ENSP00000365441:p.Val993Glu		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.V993E	ENST00000376265.2	37	c.2978	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	25.5	4.649770	0.87958	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98717	-5.09;-5.09;-5.09	5.68	5.68	0.88126	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.97291	3.975	0.53005	D	0.999963	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.98233	1.0484	10	0.87932	D	0	.	13.8535	0.63513	1.0:0.0:0.0:0.0	.	982;993	F5CIQ9;O60840	.;CAC1F_HUMAN	E	928;982;993	ENSP00000365427:V928E;ENSP00000321618:V982E;ENSP00000365441:V993E	ENSP00000321618:V982E	V	-	2	0	CACNA1F	48961392	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.958000	0.93099	1.916000	0.55485	0.483000	0.47432	GTA	CACNA1F	-	pfam_Ion_trans_dom	ENSG00000102001		0.537	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	60	0.00	0	A	NM_005183		49074448	49074448	-1	no_errors	ENST00000376265	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	1.000	T
CCDC108	255101	genome.wustl.edu	37	2	219873785	219873785	+	Missense_Mutation	SNP	G	G	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr2:219873785G>C	ENST00000341552.5	-	29	4741	c.4658C>G	c.(4657-4659)aCc>aGc	p.T1553S	CCDC108_ENST00000453220.1_Missense_Mutation_p.T1553S|CCDC108_ENST00000441968.1_Missense_Mutation_p.T1553S|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1553						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTCATGTCGGTGATGGTGAA	0.557																																						dbGAP											0													120.0	83.0	95.0					2																	219873785		2202	4293	6495	-	-	-	SO:0001583	missense	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4658C>G	2.37:g.219873785G>C	ENSP00000340776:p.Thr1553Ser		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.T1553S	ENST00000341552.5	37	c.4658	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968897	0.34754	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.15603	2.41;2.41;2.41	5.31	5.31	0.75309	.	0.000000	0.43919	D	0.000513	T	0.27384	0.0672	L	0.60455	1.87	0.80722	D	1	P	0.40794	0.729	P	0.46885	0.53	T	0.00812	-1.1556	10	0.62326	D	0.03	-8.909	14.5421	0.68002	0.0:0.1464:0.8536:0.0	.	1553	Q6ZU64	CC108_HUMAN	S	1553	ENSP00000340776:T1553S;ENSP00000413377:T1553S;ENSP00000409117:T1553S	ENSP00000340776:T1553S	T	-	2	0	CCDC108	219582029	1.000000	0.71417	0.997000	0.53966	0.020000	0.10135	5.636000	0.67848	2.657000	0.90304	0.650000	0.86243	ACC	CCDC108	-	NULL	ENSG00000181378		0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	47	0.00	0	G	NM_194302		219873785	219873785	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	1.000	C
CD163	9332	genome.wustl.edu	37	12	7651707	7651707	+	Missense_Mutation	SNP	G	G	A	rs181334925		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr12:7651707G>A	ENST00000359156.4	-	4	737	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	CD163_ENST00000396620.3_Missense_Mutation_p.R179W|CD163_ENST00000541972.1_Missense_Mutation_p.R167W|CD163_ENST00000432237.2_Missense_Mutation_p.R179W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	179	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GTTCCCCACCGTCCTTGGAAT	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													273.0	257.0	262.0					12																	7651707		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.535C>T	12.37:g.7651707G>A	ENSP00000352071:p.Arg179Trp		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.R179W	ENST00000359156.4	37	c.535	CCDS8578.1	12	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.60	2.882098	0.51908	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.06	-2.98	0.05513	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.529090	0.03583	N	0.230551	T	0.42832	0.1220	L	0.60067	1.865	0.09310	N	1	D;D;D	0.64830	0.961;0.979;0.994	P;B;P	0.49301	0.606;0.292;0.606	T	0.54275	-0.8318	10	0.72032	D	0.01	.	9.4038	0.38449	0.0:0.1983:0.1814:0.6203	.	179;179;179	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	W	179;167;179;179	ENSP00000352071:R179W;ENSP00000444071:R167W;ENSP00000379863:R179W;ENSP00000403885:R179W	ENSP00000352071:R179W	R	-	1	2	CD163	7542974	0.000000	0.05858	0.116000	0.21606	0.887000	0.51463	-0.361000	0.07612	-0.135000	0.11495	-0.188000	0.12872	CGG	CD163	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177575		0.438	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	51	0.00	0	G	NM_004244, NM_203416		7651707	7651707	-1	no_errors	ENST00000359156	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	0.000	A
CD96	10225	genome.wustl.edu	37	3	111319651	111319651	+	Missense_Mutation	SNP	G	G	T	rs563251828		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr3:111319651G>T	ENST00000283285.5	+	8	1156	c.1025G>T	c.(1024-1026)aGt>aTt	p.S342I	CD96_ENST00000438817.2_Missense_Mutation_p.S326I|CD96_ENST00000352690.4_Missense_Mutation_p.S326I	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	342	Ig-like C2-type.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGGGTACATAGTAATAAACCA	0.388									Opitz Trigonocephaly syndrome																													dbGAP											0													113.0	113.0	113.0					3																	111319651		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1025G>T	3.37:g.111319651G>T	ENSP00000283285:p.Ser342Ile		Q5JPB3	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.S342I	ENST00000283285.5	37	c.1025	CCDS2959.1	3	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693986	0.30052	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.00625	6.14;6.14;6.14	4.9	-4.33	0.03677	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.663960	0.03159	N	0.169078	T	0.00496	0.0016	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.48198	-0.9056	10	0.44086	T	0.13	0.8561	1.7875	0.03044	0.5087:0.1293:0.1892:0.1728	.	326;326;342;326	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	I	326;342;326	ENSP00000342040:S326I;ENSP00000283285:S342I;ENSP00000389801:S326I	ENSP00000283285:S342I	S	+	2	0	CD96	112802341	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.176000	0.09811	-0.405000	0.07599	-0.266000	0.10368	AGT	CD96	-	pfscan_Ig-like	ENSG00000153283		0.388	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	HGNC	protein_coding	OTTHUMT00000354312.2	73	0.00	0	G			111319651	111319651	+1	no_errors	ENST00000283285	ensembl	human	known	69_37n	missense	74	17.78	16	SNP	0.000	T
CDH1	999	genome.wustl.edu	37	16	68847304	68847304	+	Missense_Mutation	SNP	G	G	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr16:68847304G>T	ENST00000261769.5	+	9	1417	c.1226G>T	c.(1225-1227)tGg>tTg	p.W409L	CDH1_ENST00000422392.2_Intron|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	409	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.Y380_K440del(2)|p.?(1)|p.T406fs*6(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACCCCAGCGTGGGAGGCTGTA	0.473			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Deletion - In frame(2)|Unknown(1)|Deletion - Frameshift(1)	breast(3)|stomach(1)											201.0	171.0	181.0					16																	68847304		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1226G>T	16.37:g.68847304G>T	ENSP00000261769:p.Trp409Leu		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.W409L	ENST00000261769.5	37	c.1226	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354990	0.82243	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794	T	0.37584	1.19	6.04	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000202	T	0.70378	0.3217	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80118	-0.1516	10	0.72032	D	0.01	.	15.0899	0.72185	0.0683:0.0:0.9317:0.0	.	409	P12830	CADH1_HUMAN	L	409	ENSP00000261769:W409L	ENSP00000261769:W409L	W	+	2	0	CDH1	67404805	1.000000	0.71417	0.567000	0.28434	0.028000	0.11728	6.780000	0.75063	1.571000	0.49722	0.561000	0.74099	TGG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.473	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	59	0.00	0	G	NM_004360		68847304	68847304	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	1.000	T
CDH6	1004	genome.wustl.edu	37	5	31302229	31302229	+	Missense_Mutation	SNP	T	T	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr5:31302229T>G	ENST00000265071.2	+	6	1088	c.823T>G	c.(823-825)Ttt>Gtt	p.F275V	CDH6_ENST00000514738.1_Missense_Mutation_p.F220V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACATACCAGTTTAAAACTCC	0.393																																						dbGAP											0													96.0	95.0	95.0					5																	31302229		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.823T>G	5.37:g.31302229T>G	ENSP00000265071:p.Phe275Val		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F275V	ENST00000265071.2	37	c.823	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717089	0.68844	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.50813	0.73;0.73	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.117279	0.64402	D	0.000005	T	0.32882	0.0844	N	0.05280	-0.08	0.58432	D	0.999999	B;B	0.27559	0.029;0.181	B;B	0.32211	0.084;0.142	T	0.28490	-1.0042	10	0.59425	D	0.04	.	16.2087	0.82144	0.0:0.0:0.0:1.0	.	275;275	P55285;P55285-2	CADH6_HUMAN;.	V	220;275	ENSP00000424843:F220V;ENSP00000265071:F275V	ENSP00000265071:F275V	F	+	1	0	CDH6	31337986	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.451000	0.44952	2.233000	0.73108	0.482000	0.46254	TTT	CDH6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113361		0.393	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	75	0.00	0	T	NM_004932		31302229	31302229	+1	no_errors	ENST00000265071	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	1.000	G
CHD6	84181	genome.wustl.edu	37	20	40118637	40118637	+	Missense_Mutation	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr20:40118637C>G	ENST00000373233.3	-	12	1638	c.1461G>C	c.(1459-1461)gaG>gaC	p.E487D	CHD6_ENST00000309279.7_Missense_Mutation_p.E487D	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	487	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTAGGCCCATCTCATCAGCCA	0.398																																						dbGAP											0													120.0	132.0	128.0					20																	40118637		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1461G>C	20.37:g.40118637C>G	ENSP00000362330:p.Glu487Asp		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E487D	ENST00000373233.3	37	c.1461	CCDS13317.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.29|19.29	3.800166|3.800166	0.70567|0.70567	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.94723|.	-3.5;-3.5|.	5.27|5.27	1.09|1.09	0.20402|0.20402	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.56097|.	D|.	0.000027|.	T|T	0.58750|0.58750	0.2144|0.2144	L|L	0.58354|0.58354	1.805|1.805	0.58432|0.58432	D|D	0.999991|0.999991	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.51585|0.51585	-0.8687|-0.8687	10|5	0.87932|.	D|.	0|.	-25.288|-25.288	9.0941|9.0941	0.36629|0.36629	0.0:0.6259:0.0:0.3741|0.0:0.6259:0.0:0.3741	.|.	487|.	Q8TD26|.	CHD6_HUMAN|.	D|T	487|190	ENSP00000362330:E487D;ENSP00000308684:E487D|.	ENSP00000308684:E487D|.	E|R	-|-	3|2	2|0	CHD6|CHD6	39552051|39552051	0.976000|0.976000	0.34144|0.34144	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	0.242000|0.242000	0.18087|0.18087	0.029000|0.029000	0.15352|0.15352	0.650000|0.650000	0.86243|0.86243	GAG|AGA	CHD6	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000124177		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	61	0.00	0	C			40118637	40118637	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	missense	35	27.08	13	SNP	1.000	G
COL4A6	1288	genome.wustl.edu	37	X	107436869	107436869	+	Missense_Mutation	SNP	G	G	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chrX:107436869G>T	ENST00000372216.4	-	17	1164	c.1064C>A	c.(1063-1065)gCt>gAt	p.A355D	COL4A6_ENST00000334504.7_Missense_Mutation_p.A354D|COL4A6_ENST00000394872.2_Missense_Mutation_p.A355D|COL4A6_ENST00000545689.1_Missense_Mutation_p.A354D|COL4A6_ENST00000538570.1_Missense_Mutation_p.A354D	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	355	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						TGAGATCACAGCACCATCTAT	0.368									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													127.0	122.0	124.0					X																	107436869		2203	4300	6503	-	-	-	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.1064C>A	X.37:g.107436869G>T	ENSP00000361290:p.Ala355Asp		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.A355D	ENST00000372216.4	37	c.1064	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492210	0.26774	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.94376	-3.41;-3.41;-3.28;-3.41;-3.41	5.19	3.42	0.39159	.	0.991091	0.08185	N	0.984853	D	0.90390	0.6992	L	0.31294	0.92	0.33708	D	0.615409	P;P;P;P	0.44429	0.835;0.835;0.745;0.835	P;P;B;P	0.48400	0.576;0.576;0.372;0.576	D	0.84426	0.0574	10	0.23891	T	0.37	.	6.926	0.24416	0.3776:0.0:0.6224:0.0	.	354;354;355;354	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	D	355;354;355;354;354;354	ENSP00000361290:A355D;ENSP00000334733:A354D;ENSP00000378340:A355D;ENSP00000443707:A354D;ENSP00000445236:A354D	ENSP00000334733:A354D	A	-	2	0	COL4A6	107323525	0.996000	0.38824	0.998000	0.56505	0.986000	0.74619	1.369000	0.34227	0.637000	0.30526	0.594000	0.82650	GCT	COL4A6	-	NULL	ENSG00000197565		0.368	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	51	0.00	0	G			107436869	107436869	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.995	T
DDX60L	91351	genome.wustl.edu	37	4	169317267	169317267	+	Missense_Mutation	SNP	T	T	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr4:169317267T>A	ENST00000511577.1	-	27	3747	c.3500A>T	c.(3499-3501)aAa>aTa	p.K1167I	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1167I|DDX60L_ENST00000505890.1_Missense_Mutation_p.K1168I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1167							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTTGGGTTTTTTTTAGTGCT	0.323																																						dbGAP											0													29.0	26.0	27.0					4																	169317267		1770	4031	5801	-	-	-	SO:0001583	missense	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3500A>T	4.37:g.169317267T>A	ENSP00000422423:p.Lys1167Ile		Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1167I	ENST00000511577.1	37	c.3500		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.213|6.213	0.407450|0.407450	0.11754|0.11754	.|.	.|.	ENSG00000181381|ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863|ENST00000514580	T;T;T;T|T	0.42513|0.44083	0.99;0.99;0.97;2.81|0.93	1.69|1.69	0.477|0.477	0.16784|0.16784	.|.	1.645770|1.645770	0.04937|0.04937	U|N	0.457918|0.457918	T|T	0.38799|0.38799	0.1054|0.1054	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	P;P;P|.	0.47677|.	0.899;0.695;0.899|.	B;B;B|.	0.42282|.	0.382;0.312;0.382|.	T|T	0.27123|0.27123	-1.0083|-1.0083	10|8	0.41790|0.19590	T|T	0.15|0.45	.|.	4.9102|4.9102	0.13818|0.13818	0.0:0.1818:0.0:0.8182|0.0:0.1818:0.0:0.8182	.|.	1167;1168;1167|.	E9PAP8;D6R906;Q5H9U9|.	.;.;DDX6L_HUMAN|.	I|N	1167;1167;1168;863|54	ENSP00000260184:K1167I;ENSP00000422423:K1167I;ENSP00000422202:K1168I;ENSP00000421026:K863I|ENSP00000422920:K54N	ENSP00000260184:K1167I|ENSP00000422920:K54N	K|K	-|-	2|3	0|2	DDX60L|DDX60L	169553842|169553842	0.017000|0.017000	0.18338|0.18338	0.001000|0.001000	0.08648|0.08648	0.013000|0.013000	0.08279|0.08279	0.408000|0.408000	0.21065|0.21065	0.122000|0.122000	0.18314|0.18314	0.260000|0.260000	0.18958|0.18958	AAA|AAA	DDX60L	-	NULL	ENSG00000181381		0.323	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	42	0.00	0	T	NM_001012967		169317267	169317267	-1	no_errors	ENST00000260184	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.005	A
DGCR2	9993	genome.wustl.edu	37	22	19052401	19052401	+	Missense_Mutation	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr22:19052401C>A	ENST00000263196.7	-	4	755	c.508G>T	c.(508-510)Gac>Tac	p.D170Y	DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.D129Y|DGCR2_ENST00000545799.1_Missense_Mutation_p.D167Y	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	170	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCGGGCTGGTCCCATTCCTGG	0.612																																						dbGAP											0													56.0	51.0	53.0					22																	19052401		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.508G>T	22.37:g.19052401C>A	ENSP00000263196:p.Asp170Tyr		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.D170Y	ENST00000263196.7	37	c.508	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691445	0.88735	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	T;D;D	0.97378	0.78;-4.36;-4.19	4.96	4.96	0.65561	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.089585	0.85682	D	0.000000	D	0.97990	0.9338	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.94	D	0.99143	1.0856	10	0.72032	D	0.01	.	17.8327	0.88687	0.0:1.0:0.0:0.0	.	126;170	B7Z3T5;P98153	.;IDD_HUMAN	Y	129;170;167;170	ENSP00000440062:D129Y;ENSP00000263196:D170Y;ENSP00000445069:D167Y	ENSP00000263196:D170Y	D	-	1	0	DGCR2	17432401	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	0.878000	0.28126	2.297000	0.77311	0.467000	0.42956	GAC	DGCR2	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000070413		0.612	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1	37	0.00	0	C	NM_005137		19052401	19052401	-1	no_errors	ENST00000263196	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21775366	21775366	+	Missense_Mutation	SNP	A	A	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:21775366A>G	ENST00000409508.3	+	46	7580	c.7549A>G	c.(7549-7551)Aca>Gca	p.T2517A	DNAH11_ENST00000328843.6_Missense_Mutation_p.T2524A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2524	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTGGGAAAAACAGTCTTTGT	0.433									Kartagener syndrome																													dbGAP											0													166.0	164.0	165.0					7																	21775366		1915	4133	6048	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7549A>G	7.37:g.21775366A>G	ENSP00000475939:p.Thr2517Ala		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T2524A	ENST00000409508.3	37	c.7570		7	.	.	.	.	.	.	.	.	.	.	A	17.55	3.418767	0.62622	.	.	ENSG00000105877	ENST00000328843	T	0.65364	-0.15	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);	0.050386	0.85682	D	0.000000	T	0.76630	0.4014	.	.	.	0.54753	D	0.999988	D	0.71674	0.998	D	0.74674	0.984	T	0.79077	-0.1951	9	0.66056	D	0.02	.	9.9229	0.41474	0.913:0.0:0.087:0.0	.	2524	Q96DT5	DYH11_HUMAN	A	2524	ENSP00000330671:T2524A	ENSP00000330671:T2524A	T	+	1	0	DNAH11	21741891	1.000000	0.71417	0.950000	0.38849	0.658000	0.38924	2.002000	0.40835	2.022000	0.59522	0.533000	0.62120	ACA	DNAH11	-	smart_AAA+_ATPase	ENSG00000105877		0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	87	0.00	0	A	NM_003777		21775366	21775366	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	95	14.41	16	SNP	1.000	G
DNAH12	201625	genome.wustl.edu	37	3	57419473	57419473	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr3:57419473G>A	ENST00000351747.2	-	31	4849	c.4669C>T	c.(4669-4671)Cat>Tat	p.H1557Y		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1557	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CCATAGCCATGTTCATTCATT	0.388																																						dbGAP											0													200.0	178.0	184.0					3																	57419473		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.4669C>T	3.37:g.57419473G>A	ENSP00000295937:p.His1557Tyr		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.H1557Y	ENST00000351747.2	37	c.4669		3	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350644	0.41599	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	D;D	0.86497	-2.13;-2.13	5.73	3.95	0.45737	ATPase, dynein-related, AAA domain (1);	.	.	.	.	T	0.80369	0.4610	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74780	-0.3549	9	0.87932	D	0	.	11.9157	0.52763	0.1397:0.0:0.8603:0.0	.	1557	Q6ZR08	DYH12_HUMAN	Y	1557;1580	ENSP00000295937:H1557Y;ENSP00000418137:H1580Y	ENSP00000295937:H1557Y	H	-	1	0	DNAH12	57394513	0.087000	0.21565	0.988000	0.46212	0.747000	0.42532	1.902000	0.39848	0.767000	0.33267	0.655000	0.94253	CAT	DNAH12	-	pfam_ATPase_dyneun-rel_AAA	ENSG00000174844		0.388	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		71	0.00	0	G	NM_178504		57419473	57419473	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	58	18.31	13	SNP	0.931	A
DNAH17	8632	genome.wustl.edu	37	17	76567383	76567383	+	Silent	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr17:76567383G>A	ENST00000585328.1	-	5	934	c.810C>T	c.(808-810)aaC>aaT	p.N270N	DNAH17_ENST00000389840.5_Silent_p.N270N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	270	Stem. {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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTGTAAACGTTTTGCAGGG	0.512																																						dbGAP											0													91.0	93.0	92.0					17																	76567383		2121	4221	6342	-	-	-	SO:0001819	synonymous_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.810C>T	17.37:g.76567383G>A			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.N270	ENST00000585328.1	37	c.810		17																																																																																			DNAH17	-	pfam_Dynein_heavy_dom-1	ENSG00000187775		0.512	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	88	0.00	0	G	NM_173628		76567383	76567383	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	silent	30	31.82	14	SNP	0.012	A
DOCK10	55619	genome.wustl.edu	37	2	225738767	225738767	+	Silent	SNP	G	G	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr2:225738767G>T	ENST00000258390.7	-	11	1270	c.1203C>A	c.(1201-1203)ctC>ctA	p.L401L	DOCK10_ENST00000409592.3_Silent_p.L395L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	401					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GATTTGAGTTGAGGGCTTTAC	0.378																																						dbGAP											0													131.0	119.0	123.0					2																	225738767		1863	4102	5965	-	-	-	SO:0001819	synonymous_variant	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1203C>A	2.37:g.225738767G>T			B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L401	ENST00000258390.7	37	c.1203	CCDS46528.1	2																																																																																			DOCK10	-	NULL	ENSG00000135905		0.378	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	125	0.00	0	G			225738767	225738767	-1	no_errors	ENST00000258390	ensembl	human	known	69_37n	silent	91	23.53	28	SNP	1.000	T
ESPNP	284729	genome.wustl.edu	37	1	17029257	17029257	+	RNA	SNP	T	T	C	rs12125112	byFrequency	TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:17029257T>C	ENST00000492551.1	-	0	1108					NR_026567.1				espin pseudogene																		CATGTAGATGTCAGCTGCCTG	0.657													t|||	1129	0.225439	0.149	0.3372	5008	,	,		15683	0.1012		0.2326	False		,,,				2504	0.3701					dbGAP											0																																										-	-	-			0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029257T>C				RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000116219		0.657	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	24	0.00	0	T			17029257	17029257	-1	no_errors	ENST00000492551	ensembl	human	known	69_37n	rna	1	80.00	4	SNP	1.000	C
FAM170B	170370	genome.wustl.edu	37	10	50340195	50340195	+	Missense_Mutation	SNP	A	A	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr10:50340195A>T	ENST00000311787.5	-	2	404	c.315T>A	c.(313-315)agT>agA	p.S105R	FAM170B-AS1_ENST00000442525.1_RNA|FAM170B-AS1_ENST00000435809.1_RNA|FAM170B-AS1_ENST00000443389.1_RNA	NM_001164484.1	NP_001157956.1	A6NMN3	F170B_HUMAN	family with sequence similarity 170, member B	105										central_nervous_system(1)|endometrium(1)|skin(1)	3						AGGCACACACACTCTGCGGAG	0.637																																						dbGAP											0													61.0	56.0	57.0					10																	50340195		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53536.1	10q11.23	2008-11-06	2008-06-12	2008-06-12	ENSG00000172538	ENSG00000172538			19736	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 73"""	C10orf73			Standard	NM_001164484		Approved	Em:AC084727.4	uc001jhj.3	A6NMN3	OTTHUMG00000018187	ENST00000311787.5:c.315T>A	10.37:g.50340195A>T	ENSP00000308292:p.Ser105Arg		Q86WY6|Q8N6K8	Missense_Mutation	SNP	NULL	p.S105R	ENST00000311787.5	37	c.315	CCDS53536.1	10	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197713	0.38806	.	.	ENSG00000172538	ENST00000311787	T	0.29655	1.56	5.65	-0.985	0.10256	.	0.280447	0.31438	N	0.007648	T	0.41534	0.1163	L	0.57536	1.79	0.09310	N	1	D	0.63046	0.992	D	0.63381	0.914	T	0.25187	-1.0139	10	0.51188	T	0.08	-22.5202	9.1033	0.36683	0.5194:0.0:0.4806:0.0	.	105	A6NMN3	F170B_HUMAN	R	105	ENSP00000308292:S105R	ENSP00000308292:S105R	S	-	3	2	FAM170B	50010201	0.000000	0.05858	0.002000	0.10522	0.208000	0.24298	-0.491000	0.06474	0.000000	0.14550	-0.296000	0.09543	AGT	FAM170B	-	NULL	ENSG00000172538		0.637	FAM170B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM170B	HGNC	protein_coding	OTTHUMT00000047974.1	22	0.00	0	A	XM_096317		50340195	50340195	-1	no_errors	ENST00000311787	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.001	T
FAM160B1	57700	genome.wustl.edu	37	10	116602860	116602860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr10:116602860C>T	ENST00000369248.4	+	6	1026	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	FAM160B1_ENST00000369250.3_Nonsense_Mutation_p.Q231*	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	231										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCCTCCTCATCAGATGGATCA	0.473																																						dbGAP											0													162.0	130.0	141.0					10																	116602860		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.691C>T	10.37:g.116602860C>T	ENSP00000358251:p.Gln231*		Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Nonsense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.Q231*	ENST00000369248.4	37	c.691	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900652	0.92035	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	.	.	.	5.55	5.55	0.83447	.	0.707622	0.14746	N	0.300895	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-2.4627	17.6709	0.88217	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000358251:Q231X	Q	+	1	0	FAM160B1	116592850	0.027000	0.19231	0.013000	0.15412	0.006000	0.05464	1.492000	0.35594	2.619000	0.88677	0.655000	0.94253	CAG	FAM160B1	-	pfam_RetinoicA-induced_16-like	ENSG00000151553		0.473	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1	40	0.00	0	C	XM_049351		116602860	116602860	+1	no_errors	ENST00000369248	ensembl	human	known	69_37n	nonsense	29	14.71	5	SNP	0.272	T
FAT1	2195	genome.wustl.edu	37	4	187628565	187628565	+	Missense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr4:187628565C>T	ENST00000441802.2	-	2	2626	c.2417G>A	c.(2416-2418)cGt>cAt	p.R806H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	806	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R806H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGTAGAAGACGCCACGCAGC	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											2	Substitution - Missense(2)	lung(2)											191.0	190.0	190.0					4																	187628565		1979	4157	6136	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2417G>A	4.37:g.187628565C>T	ENSP00000406229:p.Arg806His			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.R806H	ENST00000441802.2	37	c.2417	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	6.722	0.501952	0.12822	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.51325	0.71	4.81	-2.09	0.07232	Cadherin (4);Cadherin-like (1);	0.389091	0.31797	N	0.007054	T	0.28267	0.0698	L	0.35288	1.05	0.45607	D	0.998549	B	0.15473	0.013	B	0.13407	0.009	T	0.14420	-1.0473	10	0.14252	T	0.57	.	8.5936	0.33701	0.0:0.3877:0.1011:0.5112	.	806	Q14517	FAT1_HUMAN	H	806	ENSP00000406229:R806H	ENSP00000260147:R806H	R	-	2	0	FAT1	187865559	0.012000	0.17670	0.359000	0.25824	0.132000	0.20833	0.007000	0.13174	-0.830000	0.04262	-0.339000	0.08088	CGT	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	55	0.00	0	C	NM_005245		187628565	187628565	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.956	T
FER1L6	654463	genome.wustl.edu	37	8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr8:125131850G>A	ENST00000522917.1	+	41	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1798						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCTCAGCCGCCCAGACACC	0.473																																						dbGAP											0													150.0	149.0	149.0					8																	125131850		1922	4125	6047	-	-	-	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5393G>A	8.37:g.125131850G>A	ENSP00000428280:p.Arg1798His			Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R1798H	ENST00000522917.1	37	c.5393	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.521546	0.96416	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86562	-2.14;-2.14	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	D	0.95576	0.8562	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95455	0.8538	10	0.87932	D	0	-21.24	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1798	Q2WGJ9	FR1L6_HUMAN	H	1798	ENSP00000428280:R1798H;ENSP00000381982:R1798H	ENSP00000381982:R1798H	R	+	2	0	FER1L6	125201031	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC	FER1L6	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000214814		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	138	0.00	0	G	NM_001039112		125131850	125131850	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	missense	103	14.17	17	SNP	1.000	A
FGFR2	2263	genome.wustl.edu	37	10	123258049	123258049	+	Missense_Mutation	SNP	G	G	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr10:123258049G>C	ENST00000358487.5	-	12	1904	c.1632C>G	c.(1630-1632)caC>caG	p.H544Q	FGFR2_ENST00000357555.5_Missense_Mutation_p.H455Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.H545Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.H542Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.H428Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.H542Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.H432Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.H316Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.H545Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.H456Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.H430Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.H427Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	544	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.H544Q(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TGATATTCTTGTGTTTCCCAA	0.403		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	1	Substitution - Missense(1)	lung(1)											182.0	161.0	168.0					10																	123258049		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1632C>G	10.37:g.123258049G>C	ENSP00000351276:p.His544Gln		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,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_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H545Q	ENST00000358487.5	37	c.1635	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446887	0.63178	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	5.22	2.28	0.28536	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97685	0.9241	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0;0.995;1.0;1.0	D	0.96334	0.9246	10	0.87932	D	0	.	7.6105	0.28126	0.4938:0.0:0.5062:0.0	.	561;543;455;427;544;456;545;447	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	Q	455;545;432;544;427;428;430;136;542;545;542;456;545;545;453	ENSP00000350166:H455Q;ENSP00000358057:H432Q;ENSP00000351276:H544Q;ENSP00000348559:H427Q;ENSP00000358056:H428Q;ENSP00000358055:H430Q;ENSP00000404219:H136Q;ENSP00000263451:H542Q;ENSP00000410294:H545Q;ENSP00000309878:H542Q;ENSP00000353262:H456Q;ENSP00000358052:H545Q;ENSP00000358054:H545Q;ENSP00000337665:H453Q	ENSP00000337665:H453Q	H	-	3	2	FGFR2	123248039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.343000	0.33930	0.570000	0.29347	0.591000	0.81541	CAC	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000066468		0.403	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	115	0.00	0	G	NM_022976, NM_000141		123258049	123258049	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	missense	83	20.95	22	SNP	1.000	C
FHAD1	114827	genome.wustl.edu	37	1	15702190	15702190	+	Silent	SNP	G	G	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:15702190G>C	ENST00000375998.4	+	26	3603	c.3603G>C	c.(3601-3603)ccG>ccC	p.P1201P	FHAD1_ENST00000375999.3_Silent_p.P1201P|FHAD1_ENST00000314740.8_Silent_p.P454P|FHAD1_ENST00000358897.4_Silent_p.P1201P|FHAD1_ENST00000417793.1_Silent_p.P1165P|FHAD1_ENST00000471347.1_3'UTR			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	1201										skin(1)|stomach(1)	2						ATGCAAAACCGGATTTGCCAA	0.423																																						dbGAP											0													120.0	98.0	105.0					1																	15702190		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.3603G>C	1.37:g.15702190G>C			Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	NULL	p.G218R	ENST00000375998.4	37	c.652		1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.276711	0.01410	.	.	ENSG00000142621	ENST00000444385	.	.	.	5.08	-2.08	0.07254	.	.	.	.	.	T	0.18593	0.0446	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	.	1.4374	0.02346	0.133:0.3161:0.2719:0.279	.	.	.	.	P	520	.	.	R	+	2	0	FHAD1	15574777	0.003000	0.15002	0.001000	0.08648	0.173000	0.22820	-0.285000	0.08410	-0.734000	0.04843	-2.269000	0.00276	CGG	FHAD1	-	NULL	ENSG00000142621		0.423	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	61	0.00	0	G	NM_052929		15702190	15702190	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000481324	ensembl	human	known	69_37n	missense	17	39.29	11	SNP	0.002	C
FZD9	8326	genome.wustl.edu	37	7	72849811	72849811	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:72849811G>A	ENST00000344575.3	+	1	1703	c.1474G>A	c.(1474-1476)Gga>Aga	p.G492R		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	492					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCGGGGCCCGGAGGCCGGAG	0.652																																					Pancreas(144;909 1878 36867 38226 39554)	dbGAP											0													28.0	31.0	30.0					7																	72849811		2198	4297	6495	-	-	-	SO:0001583	missense	0			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1474G>A	7.37:g.72849811G>A	ENSP00000345785:p.Gly492Arg			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.G492R	ENST00000344575.3	37	c.1474	CCDS5548.1	7	.	.	.	.	.	.	.	.	.	.	G	7.667	0.686159	0.14973	.	.	ENSG00000188763	ENST00000344575	D	0.81908	-1.55	4.88	4.88	0.63580	GPCR, family 2-like (1);	0.239110	0.19239	U	0.119218	T	0.75102	0.3804	L	0.40543	1.245	0.48696	D	0.999698	B	0.23185	0.081	B	0.16722	0.016	T	0.69168	-0.5216	10	0.17369	T	0.5	.	13.553	0.61743	0.0:0.1692:0.8308:0.0	.	492	O00144	FZD9_HUMAN	R	492	ENSP00000345785:G492R	ENSP00000345785:G492R	G	+	1	0	FZD9	72487747	0.973000	0.33851	0.434000	0.26772	0.534000	0.34807	2.663000	0.46774	2.261000	0.74972	0.563000	0.77884	GGA	FZD9	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000188763		0.652	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD9	HGNC	protein_coding	OTTHUMT00000252120.1	16	0.00	0	G			72849811	72849811	+1	no_errors	ENST00000344575	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.962	A
GPR128	84873	genome.wustl.edu	37	3	100373936	100373936	+	Missense_Mutation	SNP	T	T	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr3:100373936T>A	ENST00000273352.3	+	12	1905	c.1637T>A	c.(1636-1638)cTc>cAc	p.L546H	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L251H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	546					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(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGGAACGCACTCAGCGCTGCA	0.453																																					Pancreas(87;185 1975 7223 18722)	dbGAP											0													177.0	158.0	164.0					3																	100373936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1637T>A	3.37:g.100373936T>A	ENSP00000273352:p.Leu546His		Q14D94|Q86SQ2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L546H	ENST00000273352.3	37	c.1637	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616025	0.46631	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.41758	0.99;0.99	5.59	5.59	0.84812	GPCR, family 2-like (1);	0.210092	0.33792	N	0.004551	T	0.72661	0.3488	H	0.94658	3.565	0.40226	D	0.97779	D;D	0.89917	0.999;1.0	D;D	0.75020	0.957;0.985	T	0.81523	-0.0894	10	0.87932	D	0	.	13.1468	0.59467	0.0:0.0:0.0:1.0	.	251;546	E9PHI0;Q96K78	.;GP128_HUMAN	H	546;251	ENSP00000273352:L546H;ENSP00000419788:L251H	ENSP00000273352:L546H	L	+	2	0	GPR128	101856626	1.000000	0.71417	0.641000	0.29422	0.017000	0.09413	5.325000	0.65869	2.121000	0.65114	0.533000	0.62120	CTC	GPR128	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000144820		0.453	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	50	0.00	0	T			100373936	100373936	+1	no_errors	ENST00000273352	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.976	A
GRIA3	2892	genome.wustl.edu	37	X	122319694	122319694	+	Missense_Mutation	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chrX:122319694C>A	ENST00000371251.1	+	2	172	c.120C>A	c.(118-120)ttC>ttA	p.F40L	GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.F24L|GRIA3_ENST00000264357.5_Missense_Mutation_p.F40L|GRIA3_ENST00000371264.3_Missense_Mutation_p.F40L|GRIA3_ENST00000542149.1_Missense_Mutation_p.F40L|GRIA3_ENST00000371256.5_Missense_Mutation_p.F40L|GRIA3_ENST00000371266.1_Missense_Mutation_p.F40L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	40					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GTGGACTTTTCATGAGAAACA	0.488																																						dbGAP											0													113.0	85.0	94.0					X																	122319694		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.120C>A	X.37:g.122319694C>A	ENSP00000360297:p.Phe40Leu		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F40L	ENST00000371251.1	37	c.120	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	35	5.564822	0.96527	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.01	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.986;0.992	D;D;D;D	0.80764	0.917;0.994;0.936;0.971	T	0.40997	-0.9533	10	0.87932	D	0	.	17.5992	0.88021	0.0:1.0:0.0:0.0	.	24;40;40;40	B7Z4C0;Q4TT43;P42263;P42263-2	.;.;GRIA3_HUMAN;.	L	40;40;40;40;40;40;40;24	ENSP00000264357:F40L;ENSP00000446146:F40L;ENSP00000360302:F40L;ENSP00000360297:F40L;ENSP00000446440:F24L	ENSP00000264357:F40L	F	+	3	2	GRIA3	122147375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.677000	0.61634	2.372000	0.80975	0.600000	0.82982	TTC	GRIA3	-	NULL	ENSG00000125675		0.488	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	53	0.00	0	C	NM_000828		122319694	122319694	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	A
GUCY2C	2984	genome.wustl.edu	37	12	14849213	14849213	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr12:14849213G>A	ENST00000261170.3	-	1	306	c.170C>T	c.(169-171)gCg>gTg	p.A57V	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	57					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTCATTCACCGCATCTTCCAA	0.483																																						dbGAP											0													91.0	84.0	87.0					12																	14849213		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.170C>T	12.37:g.14849213G>A	ENSP00000261170:p.Ala57Val		B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,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_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.A57V	ENST00000261170.3	37	c.170	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071638	0.36566	.	.	ENSG00000070019	ENST00000261170	D	0.91577	-2.87	5.56	2.55	0.30701	Extracellular ligand-binding receptor (1);	0.238205	0.41097	N	0.000950	D	0.82944	0.5147	L	0.41961	1.31	0.09310	N	1	P	0.36282	0.546	B	0.32149	0.141	T	0.70310	-0.4907	10	0.28530	T	0.3	.	7.5963	0.28050	0.2743:0.0:0.7257:0.0	.	57	P25092	GUC2C_HUMAN	V	57	ENSP00000261170:A57V	ENSP00000261170:A57V	A	-	2	0	GUCY2C	14740480	0.031000	0.19500	0.004000	0.12327	0.042000	0.13812	1.047000	0.30367	0.323000	0.23307	0.655000	0.94253	GCG	GUCY2C	-	pfam_ANF_lig-bd_rcpt	ENSG00000070019		0.483	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	100	0.00	0	G			14849213	14849213	-1	no_errors	ENST00000261170	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	0.013	A
HECTD1	25831	genome.wustl.edu	37	14	31598424	31598424	+	Missense_Mutation	SNP	T	T	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr14:31598424T>G	ENST00000399332.1	-	25	4641	c.4153A>C	c.(4153-4155)Agc>Cgc	p.S1385R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1385R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1385	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACAGAACTGCTGCTTCCTTTT	0.483																																						dbGAP											0													165.0	163.0	164.0					14																	31598424		2035	4198	6233	-	-	-	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4153A>C	14.37:g.31598424T>G	ENSP00000382269:p.Ser1385Arg		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.S1385R	ENST00000399332.1	37	c.4153	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960015	0.53400	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.43688	0.94;0.94;1.3	5.52	5.52	0.82312	.	0.000000	0.85682	U	0.000000	T	0.31544	0.0800	N	0.19112	0.55	0.80722	D	1	P;P	0.50943	0.94;0.94	B;B	0.41666	0.278;0.363	T	0.12116	-1.0560	10	0.46703	T	0.11	-6.9075	15.9527	0.79855	0.0:0.0:0.0:1.0	.	1385;1385	D3DS86;Q9ULT8	.;HECD1_HUMAN	R	1385;1387;1385;812	ENSP00000450697:S1385R;ENSP00000382269:S1385R;ENSP00000451860:S812R	ENSP00000261312:S1387R	S	-	1	0	HECTD1	30668175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.227000	0.72691	0.455000	0.32223	AGC	HECTD1	-	NULL	ENSG00000092148		0.483	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	83	0.00	0	T			31598424	31598424	-1	no_errors	ENST00000399332	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	G
HECW1	23072	genome.wustl.edu	37	7	43484164	43484164	+	Missense_Mutation	SNP	G	G	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:43484164G>T	ENST00000395891.2	+	11	1998	c.1393G>T	c.(1393-1395)Ggt>Tgt	p.G465C	HECW1_ENST00000453890.1_Missense_Mutation_p.G465C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	465	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTGGACCTGGGTGAGGAGGC	0.657																																						dbGAP											0													15.0	18.0	17.0					7																	43484164		2095	4220	6315	-	-	-	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1393G>T	7.37:g.43484164G>T	ENSP00000379228:p.Gly465Cys		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G465C	ENST00000395891.2	37	c.1393	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758205	0.31137	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.31247	1.5;1.5	5.27	3.3	0.37823	.	4.801260	0.00166	N	0.000003	T	0.19565	0.0470	N	0.08118	0	0.09310	N	0.999998	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.15838	-1.0423	10	0.56958	D	0.05	.	5.6554	0.17640	0.074:0.1411:0.6385:0.1465	.	465;465	B4DH42;Q76N89	.;HECW1_HUMAN	C	465	ENSP00000379228:G465C;ENSP00000407774:G465C	ENSP00000265522:G465C	G	+	1	0	HECW1	43450689	1.000000	0.71417	0.685000	0.30070	0.637000	0.38172	2.771000	0.47670	1.320000	0.45209	0.561000	0.74099	GGT	HECW1	-	NULL	ENSG00000002746		0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	15	0.00	0	G	NM_015052		43484164	43484164	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	missense	4	69.23	9	SNP	0.053	T
HIST1H1C	3006	genome.wustl.edu	37	6	26056285	26056285	+	Silent	SNP	G	G	T	rs61742493	byFrequency	TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr6:26056285G>T	ENST00000343677.2	-	1	414	c.372C>A	c.(370-372)ggC>ggA	p.G124G		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	124			G -> A (in dbSNP:rs12111009).		nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GTTTGGTTCCGCCCGCCTTTT	0.562																																						dbGAP											0													59.0	69.0	66.0					6																	26056285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.372C>A	6.37:g.26056285G>T			A8K4I2	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.G124	ENST00000343677.2	37	c.372	CCDS4577.1	6																																																																																			HIST1H1C	-	NULL	ENSG00000187837		0.562	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	59	0.00	0	G	NM_005319		26056285	26056285	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	silent	33	26.67	12	SNP	0.985	T
HMCN1	83872	genome.wustl.edu	37	1	186026400	186026400	+	Silent	SNP	T	T	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:186026400T>C	ENST00000271588.4	+	46	7408	c.7179T>C	c.(7177-7179)ccT>ccC	p.P2393P	HMCN1_ENST00000367492.2_Silent_p.P2393P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2393	Ig-like C2-type 22.				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						ACAGGTCACCTGAAAATATTA	0.403																																						dbGAP											0													91.0	92.0	92.0					1																	186026400		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7179T>C	1.37:g.186026400T>C			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,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,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.P2393	ENST00000271588.4	37	c.7179	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	75	0.00	0	T	NM_031935		186026400	186026400	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	silent	77	11.49	10	SNP	0.998	C
HMGCR	3156	genome.wustl.edu	37	5	74640149	74640149	+	Silent	SNP	A	A	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr5:74640149A>G	ENST00000287936.4	+	4	513	c.357A>G	c.(355-357)acA>acG	p.T119T	HMGCR_ENST00000511206.1_Silent_p.T119T|HMGCR_ENST00000343975.5_Silent_p.T119T	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	119	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AAGAATTGACAGGCTTGAAGT	0.294																																						dbGAP											0													76.0	74.0	74.0					5																	74640149		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.357A>G	5.37:g.74640149A>G			B7Z3Y9|Q8N190	Silent	SNP	pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc	p.T119	ENST00000287936.4	37	c.357	CCDS4027.1	5	.	.	.	.	.	.	.	.	.	.	A	9.878	1.200903	0.22121	.	.	ENSG00000113161	ENST00000544469	.	.	.	5.52	1.36	0.22044	.	.	.	.	.	T	0.48519	0.1504	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22941	-1.0202	5	0.23302	T	0.38	-7.3115	6.1302	0.20201	0.522:0.0:0.0826:0.3954	.	.	.	.	G	51	.	ENSP00000440782:R51G	R	+	1	2	HMGCR	74675905	0.654000	0.27367	1.000000	0.80357	0.994000	0.84299	-0.043000	0.12043	0.346000	0.23899	0.402000	0.26972	AGG	HMGCR	-	pfam_Patched,pfscan_SSD,tigrfam_HMG_CoA_Rdtase_metazoan	ENSG00000113161		0.294	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCR	HGNC	protein_coding	OTTHUMT00000219877.2	109	0.00	0	A			74640149	74640149	+1	no_errors	ENST00000287936	ensembl	human	known	69_37n	silent	65	21.69	18	SNP	0.994	G
IL11RA	3590	genome.wustl.edu	37	9	34657465	34657465	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr9:34657465G>A	ENST00000555003.1	+	7	1883	c.527G>A	c.(526-528)gGg>gAg	p.G176E	IL11RA_ENST00000318041.9_Missense_Mutation_p.G176E|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000441545.2_Missense_Mutation_p.G176E|IL11RA_ENST00000378817.4_Missense_Mutation_p.G176E|IL11RA_ENST00000602473.1_Missense_Mutation_p.G176E			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	176	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GATCCCCTAGGGGCTGCCCGC	0.597																																						dbGAP											0													55.0	58.0	57.0					9																	34657465		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.527G>A	9.37:g.34657465G>A	ENSP00000450565:p.Gly176Glu		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G176E	ENST00000555003.1	37	c.527	CCDS6567.1	9	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395310	0.25205	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000553620;ENST00000378817;ENST00000318041;ENST00000555981	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.14	4.23	0.50019	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.966575	0.08586	N	0.923740	T	0.31482	0.0798	L	0.39692	1.235	0.34866	D	0.743136	B;B	0.18166	0.026;0.026	B;B	0.22601	0.04;0.04	T	0.22661	-1.0210	10	0.20046	T	0.44	-12.6358	10.5705	0.45198	0.0964:0.0:0.9036:0.0	.	176;176	Q5VZ79;Q14626	.;I11RA_HUMAN	E	176;176;99;176;176;176	ENSP00000450565:G176E;ENSP00000394391:G176E;ENSP00000452207:G99E;ENSP00000368094:G176E;ENSP00000326500:G176E;ENSP00000450640:G176E	ENSP00000326500:G176E	G	+	2	0	IL11RA	34647465	0.997000	0.39634	0.961000	0.40146	0.638000	0.38207	1.821000	0.39041	1.125000	0.41998	0.655000	0.94253	GGG	IL11RA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000137070		0.597	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL11RA	HGNC	protein_coding	OTTHUMT00000410625.1	18	0.00	0	G	NM_001142784		34657465	34657465	+1	no_errors	ENST00000318041	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.992	A
IL6ST	3572	genome.wustl.edu	37	5	55248110	55248110	+	Missense_Mutation	SNP	G	G	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr5:55248110G>C	ENST00000381298.2	-	12	1832	c.1520C>G	c.(1519-1521)cCt>cGt	p.P507R	IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.P446R|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.P507R|IL6ST_ENST00000336909.5_Missense_Mutation_p.P507R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	507	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TATGGATTCAGGGCTTCCTGG	0.368			O		hepatocellular ca																																	dbGAP		Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													107.0	104.0	105.0					5																	55248110		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1520C>G	5.37:g.55248110G>C	ENSP00000370698:p.Pro507Arg		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P507R	ENST00000381298.2	37	c.1520	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981124	0.34942	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.53423	0.62;0.62;2.33	5.93	5.93	0.95920	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.456653	0.26734	N	0.022762	T	0.48021	0.1477	M	0.77313	2.365	0.21105	N	0.99978	P;P;P	0.36354	0.542;0.549;0.542	B;B;B	0.40228	0.238;0.192;0.323	T	0.51818	-0.8657	10	0.30078	T	0.28	.	5.6103	0.17402	0.0747:0.1489:0.6396:0.1369	.	507;446;507	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	R	507;507;446	ENSP00000370698:P507R;ENSP00000338799:P507R;ENSP00000370694:P446R	ENSP00000338799:P507R	P	-	2	0	IL6ST	55283867	0.034000	0.19679	0.513000	0.27749	0.995000	0.86356	1.957000	0.40392	2.826000	0.97356	0.655000	0.94253	CCT	IL6ST	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134352		0.368	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	92	0.00	0	G	NM_002184		55248110	55248110	-1	no_errors	ENST00000336909	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	0.123	C
IPO5	3843	genome.wustl.edu	37	13	98671984	98671984	+	Missense_Mutation	SNP	T	T	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr13:98671984T>C	ENST00000490680.1	+	24	3051	c.2986T>C	c.(2986-2988)Tgg>Cgg	p.W996R	IPO5_ENST00000539640.1_Missense_Mutation_p.W871R|IPO5_ENST00000261574.5_Missense_Mutation_p.W1014R			O00410	IPO5_HUMAN	importin 5	996					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CCTTCCACACTGGTTGTCTTG	0.423																																						dbGAP											0													143.0	131.0	135.0					13																	98671984		2203	4300	6503	-	-	-	SO:0001583	missense	0			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2986T>C	13.37:g.98671984T>C	ENSP00000418393:p.Trp996Arg		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.W1014R	ENST00000490680.1	37	c.3040		13	.	.	.	.	.	.	.	.	.	.	T	24.8	4.565908	0.86439	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.14516	2.5;2.52;2.52;2.52	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56842	-0.7912	10	0.87932	D	0	-11.0694	16.1475	0.81580	0.0:0.0:0.0:1.0	.	1014	O00410-3	.	R	1014;996;996;871	ENSP00000261574:W1014R;ENSP00000350219:W996R;ENSP00000418393:W996R;ENSP00000445126:W871R	ENSP00000261574:W1014R	W	+	1	0	IPO5	97469985	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.008000	0.88588	2.213000	0.71641	0.528000	0.53228	TGG	IPO5	-	superfamily_ARM-type_fold	ENSG00000065150		0.423	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	51	0.00	0	T	NM_002271		98671984	98671984	+1	no_errors	ENST00000261574	ensembl	human	known	69_37n	missense	29	42.00	21	SNP	1.000	C
ITSN1	6453	genome.wustl.edu	37	21	35258721	35258721	+	Silent	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr21:35258721C>G	ENST00000381318.3	+	39	5262	c.4974C>G	c.(4972-4974)gtC>gtG	p.V1658V	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.V1597V|ITSN1_ENST00000399367.3_Silent_p.V1653V|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.V1658V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1658	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCAGGAAGTCCTCTGCATCA	0.562																																						dbGAP											0													117.0	92.0	100.0					21																	35258721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4974C>G	21.37:g.35258721C>G			A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V1658	ENST00000381318.3	37	c.4974	CCDS33545.1	21																																																																																			ITSN1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000205726		0.562	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	56	0.00	0	C	NM_003024		35258721	35258721	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	silent	42	22.22	12	SNP	0.563	G
KLHL25	64410	genome.wustl.edu	37	15	86311723	86311723	+	Missense_Mutation	SNP	A	A	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr15:86311723A>C	ENST00000337975.5	-	2	1593	c.1319T>G	c.(1318-1320)gTg>gGg	p.V440G	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Missense_Mutation_p.V440G|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	440					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTTGGCACTCACCACTGCGGC	0.577																																						dbGAP											0													79.0	69.0	73.0					15																	86311723		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1319T>G	15.37:g.86311723A>C	ENSP00000336800:p.Val440Gly		B2RDH2|B3KRT7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V440G	ENST00000337975.5	37	c.1319	CCDS10339.1	15	.	.	.	.	.	.	.	.	.	.	A	13.46	2.243161	0.39697	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.81078	-1.45;-1.45	5.56	5.56	0.83823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.64170	1.965	0.80722	D	1	P	0.40578	0.722	P	0.53722	0.733	T	0.82752	-0.0302	10	0.26408	T	0.33	.	14.8878	0.70584	1.0:0.0:0.0:0.0	.	440	Q9H0H3	ENC2_HUMAN	G	440;409;440	ENSP00000336800:V440G;ENSP00000444739:V440G	ENSP00000336800:V440G	V	-	2	0	KLHL25	84112727	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	9.339000	0.96797	2.116000	0.64780	0.379000	0.24179	GTG	KLHL25	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000183655		0.577	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL25	HGNC	protein_coding	OTTHUMT00000309023.1	25	0.00	0	A	NM_022480		86311723	86311723	-1	no_errors	ENST00000337975	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	1.000	C
KNG1	3827	genome.wustl.edu	37	3	186459878	186459878	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr3:186459878G>A	ENST00000265023.4	+	10	1905	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	RP11-573D15.8_ENST00000596632.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	565					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGACTTTCAGGACTCTGATCT	0.478																																						dbGAP											0													134.0	127.0	129.0					3																	186459878		1997	4158	6155	-	-	-	SO:0001583	missense	0				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1693G>A	3.37:g.186459878G>A	ENSP00000265023:p.Asp565Asn		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.D565N	ENST00000265023.4	37	c.1693	CCDS43183.1	3	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574403	0.45902	.	.	ENSG00000113889	ENST00000265023	T	0.38240	1.15	5.42	3.63	0.41609	.	0.292867	0.24745	N	0.035948	T	0.27900	0.0687	L	0.52573	1.65	0.80722	D	1	B	0.33494	0.414	B	0.28638	0.092	T	0.04029	-1.0983	9	.	.	.	-12.2944	8.5932	0.33699	0.1775:0.0:0.8225:0.0	.	565	P01042	KNG1_HUMAN	N	565	ENSP00000265023:D565N	.	D	+	1	0	KNG1	187942572	0.976000	0.34144	0.974000	0.42286	0.113000	0.19764	0.901000	0.28445	0.785000	0.33685	0.655000	0.94253	GAC	KNG1	-	NULL	ENSG00000113889		0.478	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	HGNC	protein_coding	OTTHUMT00000317738.1	63	0.00	0	G	NM_001102416		186459878	186459878	+1	no_errors	ENST00000265023	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	0.986	A
KRT32	3882	genome.wustl.edu	37	17	39622349	39622349	+	Missense_Mutation	SNP	G	G	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr17:39622349G>T	ENST00000225899.3	-	2	651	c.548C>A	c.(547-549)gCc>gAc	p.A183D	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	183	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AACTCACTTGGCCCTGAAGTC	0.547																																						dbGAP											0													128.0	105.0	113.0					17																	39622349		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.548C>A	17.37:g.39622349G>T	ENSP00000225899:p.Ala183Asp			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.A183D	ENST00000225899.3	37	c.548	CCDS11393.1	17	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343627	0.41498	.	.	ENSG00000108759	ENST00000225899	D	0.89123	-2.47	5.01	4.03	0.46877	Filament (1);	0.180806	0.26680	N	0.023048	D	0.83755	0.5323	L	0.41710	1.295	0.28035	N	0.933984	B	0.15930	0.015	B	0.31390	0.129	T	0.76675	-0.2872	10	0.72032	D	0.01	.	5.3395	0.15976	0.1681:0.1837:0.6483:0.0	.	183	Q14532	K1H2_HUMAN	D	183	ENSP00000225899:A183D	ENSP00000225899:A183D	A	-	2	0	KRT32	36875875	0.840000	0.29493	1.000000	0.80357	0.182000	0.23217	0.848000	0.27710	1.219000	0.43474	0.563000	0.77884	GCC	KRT32	-	pfam_F,prints_Keratin_I	ENSG00000108759		0.547	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	61	0.00	0	G	NM_002278		39622349	39622349	-1	no_errors	ENST00000225899	ensembl	human	known	69_37n	missense	26	30.77	12	SNP	0.999	T
LAMB1	3912	genome.wustl.edu	37	7	107572731	107572731	+	Missense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:107572731C>T	ENST00000222399.6	-	28	4510	c.4280G>A	c.(4279-4281)gGg>gAg	p.G1427E	LAMB1_ENST00000393561.1_Missense_Mutation_p.G1451E|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1427	Domain alpha.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ACAGCCAGGCCCCCCACACTT	0.582																																						dbGAP											0													147.0	137.0	141.0					7																	107572731		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4280G>A	7.37:g.107572731C>T	ENSP00000222399:p.Gly1427Glu		Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1427E	ENST00000222399.6	37	c.4280	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.224582	0.95139	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.38240	1.15;1.15	5.58	5.58	0.84498	.	.	.	.	.	T	0.66157	0.2761	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70368	-0.4891	9	0.87932	D	0	.	19.5766	0.95447	0.0:1.0:0.0:0.0	.	1427;1451	P07942;G3XAI2	LAMB1_HUMAN;.	E	1451;1427	ENSP00000377191:G1451E;ENSP00000222399:G1427E	ENSP00000222399:G1427E	G	-	2	0	LAMB1	107359967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.627000	0.88993	0.655000	0.94253	GGG	LAMB1	-	NULL	ENSG00000091136		0.582	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	114	0.00	0	C	NM_002291		107572731	107572731	-1	no_errors	ENST00000222399	ensembl	human	known	69_37n	missense	71	12.35	10	SNP	1.000	T
LCE4A	199834	genome.wustl.edu	37	1	152681654	152681654	+	Missense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:152681654C>T	ENST00000368777.1	+	2	359	c.103C>T	c.(103-105)Cct>Tct	p.P35S	LCE4A_ENST00000335535.3_Missense_Mutation_p.P35S			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	35	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCATGCCCACCTCCAATCTC	0.597																																						dbGAP											0													116.0	130.0	125.0					1																	152681654		2203	4300	6503	-	-	-	SO:0001583	missense	0			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.103C>T	1.37:g.152681654C>T	ENSP00000357766:p.Pro35Ser		Q14D97	Missense_Mutation	SNP	NULL	p.P35S	ENST00000368777.1	37	c.103	CCDS1022.1	1	.	.	.	.	.	.	.	.	.	.	C	0.952	-0.706122	0.03255	.	.	ENSG00000187170	ENST00000368777;ENST00000335535	T;T	0.12774	2.65;2.65	4.02	2.11	0.27256	.	.	.	.	.	T	0.03178	0.0093	.	.	.	0.09310	N	1	P	0.41102	0.738	B	0.35413	0.202	T	0.36286	-0.9754	8	0.87932	D	0	.	4.6755	0.12710	0.2144:0.6711:0.0:0.1145	.	35	Q5TA78	LCE4A_HUMAN	S	35	ENSP00000357766:P35S;ENSP00000335223:P35S	ENSP00000335223:P35S	P	+	1	0	LCE4A	150948278	0.002000	0.14202	0.000000	0.03702	0.139000	0.21198	0.383000	0.20651	0.335000	0.23614	0.305000	0.20034	CCT	LCE4A	-	NULL	ENSG00000187170		0.597	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE4A	HGNC	protein_coding	OTTHUMT00000040048.1	65	0.00	0	C	NM_178356		152681654	152681654	+1	no_errors	ENST00000335535	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	0.001	T
LRBA	987	genome.wustl.edu	37	4	151749586	151749586	+	Silent	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr4:151749586C>T	ENST00000357115.3	-	30	5160	c.4917G>A	c.(4915-4917)gaG>gaA	p.E1639E	LRBA_ENST00000510413.1_Silent_p.E1639E|LRBA_ENST00000535741.1_Silent_p.E1639E|LRBA_ENST00000507224.1_Silent_p.E1639E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1639						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TAGATAGCACCTCGCTGATTG	0.468																																						dbGAP											0													178.0	171.0	173.0					4																	151749586		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4917G>A	4.37:g.151749586C>T			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom	p.R292K	ENST00000357115.3	37	c.875	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	c	3.758	-0.050160	0.07407	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.66	3.69	0.42338	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42716	-0.9435	4	.	.	.	.	4.3033	0.10935	0.0:0.5526:0.0:0.4474	.	.	.	.	K	292	.	.	R	-	2	0	LRBA	151969036	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	0.683000	0.25349	1.411000	0.46957	-0.226000	0.12346	AGG	LRBA	-	NULL	ENSG00000198589		0.468	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	66	0.00	0	C			151749586	151749586	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509835	ensembl	human	novel	69_37n	missense	27	35.71	15	SNP	1.000	T
LRRC16A	55604	genome.wustl.edu	37	6	25600888	25600888	+	Missense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr6:25600888C>T	ENST00000329474.6	+	33	3834	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1156					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.R1156W(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ACAGGCAGGGCGGAGGTATGG	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											46.0	53.0	51.0					6																	25600888		2042	4197	6239	-	-	-	SO:0001583	missense	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3466C>T	6.37:g.25600888C>T	ENSP00000331983:p.Arg1156Trp		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R1156W	ENST00000329474.6	37	c.3466	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599311	0.66332	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.22134	1.97	5.2	5.2	0.72013	.	0.065798	0.64402	D	0.000008	T	0.34513	0.0900	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.969;0.969;0.974	T	0.11494	-1.0585	10	0.87932	D	0	-14.0907	13.6819	0.62491	0.1544:0.8456:0.0:0.0	.	1156;1156;1156	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	W	1156	ENSP00000331983:R1156W	ENSP00000331983:R1156W	R	+	1	2	LRRC16A	25708867	0.988000	0.35896	0.380000	0.26093	0.864000	0.49448	2.880000	0.48530	2.396000	0.81511	0.563000	0.77884	CGG	LRRC16A	-	NULL	ENSG00000079691		0.547	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	35	0.00	0	C	NM_017640		25600888	25600888	+1	no_errors	ENST00000329474	ensembl	human	novel	69_37n	missense	22	30.30	10	SNP	0.995	T
LRRTM4	80059	genome.wustl.edu	37	2	77746784	77746784	+	Missense_Mutation	SNP	T	T	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr2:77746784T>A	ENST00000409093.1	-	3	547	c.211A>T	c.(211-213)Aac>Tac	p.N71Y	LRRTM4_ENST00000409884.1_Missense_Mutation_p.N71Y|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N72Y|LRRTM4_ENST00000409282.1_Missense_Mutation_p.N72Y|LRRTM4_ENST00000409088.3_Missense_Mutation_p.N71Y			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	71					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGAATGCTGTTGAACCTTAAT	0.423																																						dbGAP											0													131.0	125.0	127.0					2																	77746784		1930	4131	6061	-	-	-	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.211A>T	2.37:g.77746784T>A	ENSP00000386357:p.Asn71Tyr		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N72Y	ENST00000409093.1	37	c.214	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294050	0.60086	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.91324	0.7264	H	0.97829	4.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.94276	0.7515	10	0.87932	D	0	.	14.8238	0.70094	0.0:0.0:0.0:1.0	.	72;71;71	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	Y	72;71;71;71;72	ENSP00000387228:N72Y;ENSP00000387297:N71Y;ENSP00000386357:N71Y;ENSP00000386236:N71Y;ENSP00000386286:N72Y	ENSP00000386236:N71Y	N	-	1	0	LRRTM4	77600292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.189000	0.69895	0.533000	0.62120	AAC	LRRTM4	-	NULL	ENSG00000176204		0.423	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	50	0.00	0	T	NM_024993		77746784	77746784	-1	no_errors	ENST00000409911	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	1.000	A
MAGI2	9863	genome.wustl.edu	37	7	77756528	77756528	+	Missense_Mutation	SNP	A	A	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:77756528A>T	ENST00000354212.4	-	19	3662	c.3409T>A	c.(3409-3411)Tac>Aac	p.Y1137N	MAGI2_ENST00000419488.1_Missense_Mutation_p.Y1123N|MAGI2_ENST00000522391.1_Missense_Mutation_p.Y1137N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1137					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGTTGTCTGTAGTCCGACAGA	0.602																																						dbGAP											0													86.0	89.0	88.0					7																	77756528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3409T>A	7.37:g.77756528A>T	ENSP00000346151:p.Tyr1137Asn		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.Y1137N	ENST00000354212.4	37	c.3409	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670070	0.47677	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.17528	2.27;2.27;2.27	5.33	5.33	0.75918	PDZ/DHR/GLGF (1);	0.000000	0.33670	U	0.004672	T	0.23330	0.0564	N	0.24115	0.695	0.80722	D	1	D;B;D	0.67145	0.971;0.029;0.996	P;B;P	0.59171	0.641;0.039;0.853	T	0.03008	-1.1083	10	0.25751	T	0.34	.	15.5898	0.76517	1.0:0.0:0.0:0.0	.	1137;1123;1137	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	N	1123;1137;1137;1137	ENSP00000405766:Y1123N;ENSP00000346151:Y1137N;ENSP00000428389:Y1137N	ENSP00000346151:Y1137N	Y	-	1	0	MAGI2	77594464	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.870000	0.92336	2.136000	0.66102	0.533000	0.62120	TAC	MAGI2	-	superfamily_PDZ	ENSG00000187391		0.602	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	46	0.00	0	A	NM_012301		77756528	77756528	-1	no_errors	ENST00000354212	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	1.000	T
MDM4	4194	genome.wustl.edu	37	1	204506608	204506608	+	Missense_Mutation	SNP	A	A	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:204506608A>T	ENST00000367182.3	+	6	556	c.394A>T	c.(394-396)Agt>Tgt	p.S132C	MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000391947.2_Intron|MDM4_ENST00000454264.2_Missense_Mutation_p.S132C	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	132					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGATATTCCAAGTCAAGACCA	0.453			A		"""GBM, bladder, retinoblastoma"""																																	dbGAP		Dom	yes		1	1q32	4194	Mdm4 p53 binding protein homolog		M	0													151.0	131.0	138.0					1																	204506608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.394A>T	1.37:g.204506608A>T	ENSP00000356150:p.Ser132Cys		Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.S132C	ENST00000367182.3	37	c.394	CCDS1447.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.24|16.24	3.067507|3.067507	0.55539|0.55539	.|.	.|.	ENSG00000198625|ENSG00000198625	ENST00000543518|ENST00000367182;ENST00000454264	.|T;T	.|0.34072	.|1.38;1.39	5.27|5.27	4.15|4.15	0.48705|0.48705	.|.	.|0.123969	.|0.64402	.|D	.|0.000002	T|T	0.40862|0.40862	0.1134|0.1134	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;P	.|0.53462	.|0.96;0.861	.|P;B	.|0.52309	.|0.695;0.371	T|T	0.21861|0.21861	-1.0233|-1.0233	6|10	0.51188|0.59425	T|D	0.08|0.04	-8.8688|-8.8688	9.4511|9.4511	0.38727|0.38727	0.9189:0.0:0.0811:0.0|0.9189:0.0:0.0811:0.0	.|.	.|132;132	.|O15151;Q2M2Y2	.|MDM4_HUMAN;.	M|C	122|132	.|ENSP00000356150:S132C;ENSP00000396840:S132C	ENSP00000441793:K122M|ENSP00000356150:S132C	K|S	+|+	2|1	0|0	MDM4|MDM4	202773231|202773231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.939000|2.939000	0.48995|0.48995	0.852000|0.852000	0.35287|0.35287	0.533000|0.533000	0.62120|0.62120	AAG|AGT	MDM4	-	pirsf_p53_neg-reg_MDM_2/4	ENSG00000198625		0.453	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM4	HGNC	protein_coding	OTTHUMT00000087415.2	79	0.00	0	A	NM_002393		204506608	204506608	+1	no_errors	ENST00000367182	ensembl	human	known	69_37n	missense	80	10.11	9	SNP	1.000	T
MARK1	4139	genome.wustl.edu	37	1	220752703	220752703	+	Missense_Mutation	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:220752703C>G	ENST00000366917.4	+	2	325	c.59C>G	c.(58-60)tCt>tGt	p.S20C	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000366918.4_Missense_Mutation_p.S20C					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TAGCATACATCTGTGGATGGA	0.338																																						dbGAP											0													69.0	61.0	64.0					1																	220752703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.59C>G	1.37:g.220752703C>G	ENSP00000355884:p.Ser20Cys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S20C	ENST00000366917.4	37	c.59	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829818	0.91036	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.74315	-0.46;-0.83	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.84969	0.5590	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.998;0.993;0.999	P;P;D	0.67382	0.818;0.894;0.951	D	0.85414	0.1139	10	0.72032	D	0.01	.	19.9731	0.97292	0.0:1.0:0.0:0.0	.	20;20;20	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	C	20	ENSP00000355885:S20C;ENSP00000355884:S20C	ENSP00000355884:S20C	S	+	2	0	MARK1	218819326	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	5.895000	0.69814	2.715000	0.92844	0.563000	0.77884	TCT	MARK1	-	NULL	ENSG00000116141		0.338	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	47	0.00	0	C			220752703	220752703	+1	no_errors	ENST00000366917	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	1.000	G
MEI1	150365	genome.wustl.edu	37	22	42177711	42177711	+	Silent	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr22:42177711C>T	ENST00000401548.3	+	24	2989	c.2949C>T	c.(2947-2949)agC>agT	p.S983S	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Silent_p.S316S|MEI1_ENST00000540880.1_3'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCCTGAGCAGCACAGGCCTGA	0.602																																						dbGAP											0													38.0	38.0	38.0					22																	42177711		2006	4186	6192	-	-	-	SO:0001819	synonymous_variant	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2949C>T	22.37:g.42177711C>T				Silent	SNP	superfamily_ARM-type_fold	p.S983	ENST00000401548.3	37	c.2949	CCDS46718.1	22																																																																																			MEI1	-	NULL	ENSG00000167077		0.602	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	35	0.00	0	C	NM_152513		42177711	42177711	+1	no_errors	ENST00000401548	ensembl	human	known	69_37n	silent	15	31.82	7	SNP	0.579	T
MOXD1	26002	genome.wustl.edu	37	6	132618423	132618423	+	Missense_Mutation	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr6:132618423C>G	ENST00000367963.3	-	12	1829	c.1711G>C	c.(1711-1713)Gaa>Caa	p.E571Q	MOXD1_ENST00000336749.3_Missense_Mutation_p.E503Q	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	571						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TAGGGTCTTTCTATATCTGGA	0.443																																						dbGAP											0													169.0	154.0	159.0					6																	132618423		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1711G>C	6.37:g.132618423C>G	ENSP00000356940:p.Glu571Gln		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.E571Q	ENST00000367963.3	37	c.1711	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301268	0.23650	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.50001	0.77;0.76	5.79	1.89	0.25635	.	0.702752	0.13836	N	0.359347	T	0.16041	0.0386	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.15473	0.003;0.013	B;B	0.12156	0.002;0.007	T	0.32079	-0.9920	10	0.16896	T	0.51	-1.052	6.729	0.23373	0.0:0.5759:0.2756:0.1486	.	571;503	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	Q	571;503	ENSP00000356940:E571Q;ENSP00000336998:E503Q	ENSP00000336998:E503Q	E	-	1	0	MOXD1	132660116	0.010000	0.17322	0.000000	0.03702	0.027000	0.11550	0.728000	0.26013	0.056000	0.16144	-0.175000	0.13238	GAA	MOXD1	-	NULL	ENSG00000079931		0.443	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	57	0.00	0	C	NM_015529		132618423	132618423	-1	no_errors	ENST00000367963	ensembl	human	known	69_37n	missense	48	15.79	9	SNP	0.006	G
MSRA	4482	genome.wustl.edu	37	8	10285774	10285774	+	Silent	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr8:10285774C>T	ENST00000317173.4	+	6	909	c.660C>T	c.(658-660)tgC>tgT	p.C220C	MSRA_ENST00000441698.2_Silent_p.C180C|MSRA_ENST00000528246.1_Silent_p.C154C|MSRA_ENST00000382490.5_Silent_p.C177C	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	220					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGGCTACTGCGGCCTTGGGG	0.532																																					NSCLC(88;1378 1469 30580 49103 52286)	dbGAP											0													63.0	59.0	61.0					8																	10285774		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.660C>T	8.37:g.10285774C>T			E9PAS8|Q52TC4|Q549N4|Q66MI7	Silent	SNP	pfam_Peptide_Met_Sox_Rdtase_MsrA,superfamily_Peptide_Met_Sox_Rdtase_MsrA,tigrfam_Peptide_Met_Sox_Rdtase_MsrA	p.C220	ENST00000317173.4	37	c.660	CCDS5975.1	8																																																																																			MSRA	-	pfam_Peptide_Met_Sox_Rdtase_MsrA,superfamily_Peptide_Met_Sox_Rdtase_MsrA,tigrfam_Peptide_Met_Sox_Rdtase_MsrA	ENSG00000175806		0.532	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRA	HGNC	protein_coding	OTTHUMT00000207005.1	28	0.00	0	C	NM_012331		10285774	10285774	+1	no_errors	ENST00000317173	ensembl	human	known	69_37n	silent	17	22.73	5	SNP	0.446	T
MUC12	10071	genome.wustl.edu	37	7	100647835	100647835	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:100647835C>G	ENST00000379442.3	+	5	14420	c.14420C>G	c.(14419-14421)tCa>tGa	p.S4807*	MUC12_ENST00000536621.1_Nonsense_Mutation_p.S4664*			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4807	Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AGCCCGGGCTCAATTGCAACA	0.522																																						dbGAP											0													271.0	239.0	249.0					7																	100647835		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.14420C>G	7.37:g.100647835C>G	ENSP00000368755:p.Ser4807*		A6ND38|F5GWV9|Q9UKN0	Nonsense_Mutation	SNP	pfam_SEA	p.S4807*	ENST00000379442.3	37	c.14420		7	.	.	.	.	.	.	.	.	.	.	c	52	19.919338	0.99925	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	5.9503	0.19242	0.0:0.9994:0.0:6.0E-4	.	.	.	.	X	4807;4664	.	ENSP00000368755:S4807X	S	+	2	0	MUC12	100434555	0.002000	0.14202	0.014000	0.15608	0.021000	0.10359	0.610000	0.24253	0.159000	0.19401	0.162000	0.16502	TCA	MUC12	-	NULL	ENSG00000205277		0.522	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	143	0.00	0	C	XM_379904		100647835	100647835	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	nonsense	155	13.81	25	SNP	0.127	G
MUC4	4585	genome.wustl.edu	37	3	195480096	195480096	+	Missense_Mutation	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr3:195480096C>A	ENST00000346145.4	-	19	2665	c.2626G>T	c.(2626-2628)Ggg>Tgg	p.G876W	MUC4_ENST00000349607.4_Missense_Mutation_p.G825W|MUC4_ENST00000463781.3_Missense_Mutation_p.G5112W|MUC4_ENST00000475231.1_Missense_Mutation_p.G5060W	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1869	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAAGAGCTCCCCAGAGCTGCA	0.612																																						dbGAP											0													89.0	90.0	89.0					3																	195480096		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2626G>T	3.37:g.195480096C>A	ENSP00000304207:p.Gly876Trp		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.G5112W	ENST00000346145.4	37	c.15334	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	9.443	1.088663	0.20390	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38722	1.12;1.47;1.43;1.44	3.97	3.97	0.46021	.	0.684311	0.12564	N	0.457913	T	0.60521	0.2275	M	0.62088	1.915	0.22610	N	0.998935	D;D;D;D;D;D	0.76494	0.993;0.996;0.996;0.964;0.964;0.999	P;P;P;P;P;D	0.66979	0.889;0.895;0.895;0.715;0.715;0.948	T	0.50882	-0.8775	10	0.87932	D	0	-1.0957	13.8527	0.63508	0.0:1.0:0.0:0.0	.	4984;825;876;5112;5060;1817	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	W	825;876;5112;5060;1612	ENSP00000338109:G825W;ENSP00000304207:G876W;ENSP00000417498:G5112W;ENSP00000420243:G5060W	ENSP00000304207:G876W	G	-	1	0	MUC4	196965767	0.003000	0.15002	0.795000	0.32087	0.098000	0.18820	1.216000	0.32443	2.516000	0.84829	0.549000	0.68633	GGG	MUC4	-	NULL	ENSG00000145113		0.612	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	47	0.00	0	C	NM_018406		195480096	195480096	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.699	A
NCR2	9436	genome.wustl.edu	37	6	41303645	41303647	+	In_Frame_Del	DEL	CTG	CTG	-	rs375455161		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr6:41303645_41303647delCTG	ENST00000373089.5	+	1	119_121	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	NCR2_ENST00000373083.4_In_Frame_Del_p.L15del|NCR2_ENST00000373086.3_In_Frame_Del_p.L15del	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	15					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCACTGCTACTGCTGCTGCTGC	0.635																																						dbGAP											0									,,	48,4200		1,46,2077					,,	-2.6	0.0			40	118,8096		0,118,3989	no	coding,coding,coding	NCR2	NM_004828.3,NM_001199510.1,NM_001199509.1	,,	1,164,6066	A1A1,A1R,RR		1.4366,1.1299,1.332	,,	,,		166,12296				-	-	-	SO:0001651	inframe_deletion	0			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.31_33delCTG	6.37:g.41303654_41303656delCTG	ENSP00000362181:p.Leu15del		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	In_Frame_Del	DEL	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.L14in_frame_del	ENST00000373089.5	37	c.31_33	CCDS4855.1	6																																																																																			NCR2	-	NULL	ENSG00000096264		0.635	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR2	HGNC	protein_coding	OTTHUMT00000040511.3	57	0.00	0	CTG			41303645	41303647	+1	no_errors	ENST00000373089	ensembl	human	known	69_37n	in_frame_del	30	14.29	5	DEL	0.922:0.985:0.992	-
NDUFV1	4723	genome.wustl.edu	37	11	67375917	67375917	+	Missense_Mutation	SNP	T	T	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr11:67375917T>G	ENST00000322776.6	+	2	276	c.123T>G	c.(121-123)atT>atG	p.I41M	NDUFV1_ENST00000529927.1_Missense_Mutation_p.I32M|NDUFV1_ENST00000532303.1_Intron|C11orf72_ENST00000446232.1_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000415352.2_Missense_Mutation_p.I34M	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	41					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						AAGACCGGATTTTCACCAACC	0.567																																						dbGAP											0													161.0	164.0	163.0					11																	67375917		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.123T>G	11.37:g.67375917T>G	ENSP00000322450:p.Ile41Met		O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF	p.I41M	ENST00000322776.6	37	c.123	CCDS8173.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.26|13.26	2.182810|2.182810	0.38511|0.38511	.|.	.|.	ENSG00000167792|ENSG00000167792	ENST00000530638|ENST00000322776;ENST00000528328;ENST00000529927;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000453836	T|T;T;T;T;T;T	0.77229|0.65364	-1.08|-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	4.77|4.77	-0.329|-0.329	0.12686|0.12686	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76828|0.76828	0.4042|0.4042	M|M	0.92367|0.92367	3.3|3.3	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D;D	.|0.76494	.|0.999;0.999;0.992	.|D;D;D	.|0.71184	.|0.972;0.972;0.937	T|T	0.71646|0.71646	-0.4530|-0.4530	7|10	0.87932|0.87932	D|D	0|0	-17.1617|-17.1617	3.0883|3.0883	0.06285|0.06285	0.3052:0.3447:0.0:0.35|0.3052:0.3447:0.0:0.35	.|.	.|34;32;41	.|G3V0I5;P49821-2;P49821	.|.;.;NDUV1_HUMAN	C|M	5|41;24;32;34;41;29;41	ENSP00000436936:F5C|ENSP00000322450:I41M;ENSP00000436906:I24M;ENSP00000436766:I32M;ENSP00000395368:I34M;ENSP00000437267:I41M;ENSP00000434438:I29M	ENSP00000436936:F5C|ENSP00000322450:I41M	F|I	+|+	2|3	0|3	NDUFV1|NDUFV1	67132493|67132493	0.903000|0.903000	0.30736|0.30736	0.987000|0.987000	0.45799|0.45799	0.861000|0.861000	0.49209|0.49209	-0.007000|-0.007000	0.12810|0.12810	-0.213000|-0.213000	0.10094|0.10094	-1.191000|-1.191000	0.01696|0.01696	TTT|ATT	NDUFV1	-	tigrfam_NADH-UbQ_OxRdtase_suF	ENSG00000167792		0.567	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	HGNC	protein_coding	OTTHUMT00000388406.1	53	0.00	0	T	NM_007103		67375917	67375917	+1	no_errors	ENST00000322776	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	0.987	G
NLGN4X	57502	genome.wustl.edu	37	X	5821686	5821686	+	Missense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chrX:5821686C>T	ENST00000381095.3	-	5	1660	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	NLGN4X_ENST00000275857.6_Missense_Mutation_p.D345N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D345N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D365N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D345N	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	345					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ACGTCGCCGTCGATCACCGGC	0.587																																						dbGAP											0													157.0	108.0	125.0					X																	5821686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1033G>A	X.37:g.5821686C>T	ENSP00000370485:p.Asp345Asn		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.D365N	ENST00000381095.3	37	c.1093	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872584	0.51695	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	D	0.84401	0.5464	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.997	D	0.89462	0.3737	8	.	.	.	.	14.4946	0.67678	0.0:1.0:0.0:0.0	.	402;345;365	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	N	345;365;345;345;345	ENSP00000370485:D345N;ENSP00000370483:D365N;ENSP00000275857:D345N;ENSP00000370482:D345N;ENSP00000439203:D345N	.	D	-	1	0	NLGN4X	5831686	1.000000	0.71417	0.081000	0.20488	0.004000	0.04260	6.722000	0.74735	1.579000	0.49836	0.600000	0.82982	GAC	NLGN4X	-	pfam_CarbesteraseB	ENSG00000146938		0.587	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	47	0.00	0	C	NM_020742		5821686	5821686	-1	no_errors	ENST00000381093	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	1.000	T
NUB1	51667	genome.wustl.edu	37	7	151071305	151071305	+	Silent	SNP	C	C	T	rs530374847		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:151071305C>T	ENST00000355851.4	+	12	1448	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	NUB1_ENST00000568733.1_Silent_p.S481S|NUB1_ENST00000413040.2_Intron|WDR86_ENST00000463000.1_5'Flank|NUB1_ENST00000566856.1_Intron	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	457	NEDD8-binding 1.|UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACGCAGCCAGCGGGAACTTGG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18664	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													25.0	30.0	29.0					7																	151071305		2043	4155	6198	-	-	-	SO:0001819	synonymous_variant	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1371C>T	7.37:g.151071305C>T			O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	superfamily_UBA-like	p.R61W	ENST00000355851.4	37	c.181		7	.	.	.	.	.	.	.	.	.	.	C	6.817	0.519806	0.13005	.	.	ENSG00000013374	ENST00000480714	.	.	.	5.09	-6.22	0.02058	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41574	-0.9501	4	.	.	.	-12.907	1.6044	0.02681	0.3136:0.181:0.0862:0.4192	.	.	.	.	W	61	.	.	R	+	1	2	NUB1	150702238	0.000000	0.05858	0.713000	0.30519	0.620000	0.37586	-2.532000	0.00943	-0.832000	0.04251	-0.218000	0.12543	CGG	NUB1	-	superfamily_UBA-like	ENSG00000013374		0.612	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding		23	0.00	0	C	NM_016118		151071305	151071305	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000480714	ensembl	human	putative	69_37n	missense	17	40.00	12	SNP	0.026	T
NXF1	10482	genome.wustl.edu	37	11	62561771	62561771	+	Silent	SNP	T	T	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr11:62561771T>C	ENST00000532297.1	-	20	2348	c.1719A>G	c.(1717-1719)gcA>gcG	p.A573A	NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000294172.2_Silent_p.A573A|TMEM223_ENST00000307366.7_5'Flank|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	573	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGTAGAGAATGCTTGCAACA	0.547																																						dbGAP											0													95.0	85.0	88.0					11																	62561771		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1719A>G	11.37:g.62561771T>C			B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom	p.H78R	ENST00000532297.1	37	c.233	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554877	0.27739	.	.	ENSG00000162231	ENST00000527902	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.47100	-0.9143	4	.	.	.	-3.2644	4.689	0.12771	0.1779:0.4313:0.2704:0.1205	.	.	.	.	R	78	.	.	H	-	2	0	NXF1	62318347	0.000000	0.05858	0.629000	0.29254	0.996000	0.88848	-3.119000	0.00596	-1.968000	0.01006	0.459000	0.35465	CAT	NXF1	-	pfam_TAP_C_dom,superfamily_UBA-like,smart_TAP_C_dom	ENSG00000162231		0.547	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	55	0.00	0	T	NM_006362		62561771	62561771	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000527902	ensembl	human	novel	69_37n	missense	39	22.00	11	SNP	0.108	C
OBSCN	84033	genome.wustl.edu	37	1	228495195	228495195	+	Silent	SNP	A	A	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:228495195A>T	ENST00000422127.1	+	46	12473	c.12429A>T	c.(12427-12429)acA>acT	p.T4143T	OBSCN_ENST00000284548.11_Silent_p.T4143T|OBSCN_ENST00000366709.4_Silent_p.T1262T|OBSCN_ENST00000366707.4_Silent_p.T1777T|OBSCN_ENST00000570156.2_Silent_p.T5100T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4143	Ig-like 42.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGTGTGACAGGCGGCCAGA	0.652																																						dbGAP											0													25.0	38.0	34.0					1																	228495195		2173	4257	6430	-	-	-	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12429A>T	1.37:g.228495195A>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.T4143	ENST00000422127.1	37	c.12429	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000154358		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		41	0.00	0	A	NM_052843		228495195	228495195	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	silent	21	18.52	5	SNP	0.047	T
OR52K2	119774	genome.wustl.edu	37	11	4470851	4470851	+	Silent	SNP	A	A	T	rs369849936		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr11:4470851A>T	ENST00000325719.4	+	1	327	c.282A>T	c.(280-282)atA>atT	p.I94I	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCGGGAGATAAACTTCTTTG	0.527																																						dbGAP											0													107.0	87.0	94.0					11																	4470851		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.282A>T	11.37:g.4470851A>T			A8MUY8|B2RP35|Q6IFK4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I94	ENST00000325719.4	37	c.282	CCDS31351.1	11																																																																																			OR52K2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000181963		0.527	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K2	HGNC	protein_coding	OTTHUMT00000385844.1	76	0.00	0	A	NM_001005172		4470851	4470851	+1	no_errors	ENST00000325719	ensembl	human	known	69_37n	silent	43	29.51	18	SNP	0.001	T
OTOF	9381	genome.wustl.edu	37	2	26693990	26693990	+	Splice_Site	SNP	A	A	C	rs397517946		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr2:26693990A>C	ENST00000272371.2	-	31	4019	c.3893T>G	c.(3892-3894)gTg>gGg	p.V1298G	OTOF_ENST00000402415.3_Splice_Site_p.V608G|OTOF_ENST00000339598.3_Splice_Site_p.V531G|OTOF_ENST00000403946.3_Splice_Site_p.V1298G|OTOF_ENST00000338581.6_Splice_Site_p.V531G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1298					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACACTCACCACATCCACCTT	0.602																																					GBM(102;732 1451 20652 24062 31372)	dbGAP											0													132.0	126.0	128.0					2																	26693990		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3894+1T>G	2.37:g.26693990A>C			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V1298G	ENST00000272371.2	37	c.3893	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894483	0.72639	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.81163	-1.21;-1.21;-1.18;-1.46;-1.46	5.4	5.4	0.78164	.	0.195484	0.49305	D	0.000155	T	0.77922	0.4203	M	0.65975	2.015	0.80722	D	1	P;P;B;B	0.35226	0.483;0.491;0.418;0.325	B;B;B;B	0.34824	0.084;0.19;0.122;0.108	T	0.75590	-0.3265	10	0.25106	T	0.35	-31.423	13.6444	0.62272	1.0:0.0:0.0:0.0	.	1298;531;608;531	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	G	531;531;608;1298;1298	ENSP00000345137:V531G;ENSP00000344521:V531G;ENSP00000383906:V608G;ENSP00000272371:V1298G;ENSP00000385255:V1298G	ENSP00000272371:V1298G	V	-	2	0	OTOF	26547494	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.767000	0.85331	2.050000	0.60909	0.533000	0.62120	GTG	OTOF	-	NULL	ENSG00000115155		0.602	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	53	0.00	0	A		Missense_Mutation	26693990	26693990	-1	no_errors	ENST00000272371	ensembl	human	known	69_37n	missense	43	16.98	9	SNP	1.000	C
PCDHGA1	56114	genome.wustl.edu	37	5	140710475	140710475	+	Missense_Mutation	SNP	T	T	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr5:140710475T>C	ENST00000517417.1	+	1	224	c.224T>C	c.(223-225)tTc>tCc	p.F75S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F75S|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	75	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)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCGCTTTTCGCTCTGAAT	0.582																																						dbGAP											0													116.0	123.0	121.0					5																	140710475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.224T>C	5.37:g.140710475T>C	ENSP00000431083:p.Phe75Ser		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F75S	ENST00000517417.1	37	c.224	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656758	0.47467	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.36699	1.24;1.24	4.37	4.37	0.52481	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000174	T	0.75309	0.3832	H	0.99357	4.53	0.24531	N	0.99411	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75560	-0.3275	10	0.87932	D	0	.	13.7197	0.62719	0.0:0.0:0.0:1.0	.	75;75	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	S	75	ENSP00000431083:F75S;ENSP00000367345:F75S	ENSP00000367345:F75S	F	+	2	0	PCDHGA1	140690659	0.089000	0.21612	0.999000	0.59377	0.610000	0.37248	1.156000	0.31712	1.971000	0.57363	0.533000	0.62120	TTC	PCDHGA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000204956		0.582	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	48	0.00	0	T	NM_018912		140710475	140710475	+1	no_errors	ENST00000517417	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.996	C
PHKA2	5256	genome.wustl.edu	37	X	18961899	18961899	+	Missense_Mutation	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chrX:18961899C>A	ENST00000379942.4	-	7	1311	c.646G>T	c.(646-648)Gac>Tac	p.D216Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	216					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCAAAAAGGTCCAGTTCATCA	0.438																																						dbGAP											0													186.0	150.0	162.0					X																	18961899		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.646G>T	X.37:g.18961899C>A	ENSP00000369274:p.Asp216Tyr		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.D216Y	ENST00000379942.4	37	c.646	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692280	0.88735	.	.	ENSG00000044446	ENST00000379942	D	0.90069	-2.61	5.43	5.43	0.79202	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.045004	0.85682	D	0.000000	D	0.95778	0.8626	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.96667	0.9493	10	0.87932	D	0	-19.3467	18.3299	0.90264	0.0:1.0:0.0:0.0	.	216	P46019	KPB2_HUMAN	Y	216	ENSP00000369274:D216Y	ENSP00000369274:D216Y	D	-	1	0	PHKA2	18871820	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	4.857000	0.62939	2.267000	0.75376	0.600000	0.82982	GAC	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	ENSG00000044446		0.438	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	96	0.00	0	C	NM_000292		18961899	18961899	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	missense	51	30.14	22	SNP	1.000	A
PHF8	23133	genome.wustl.edu	37	X	53966853	53966853	+	Missense_Mutation	SNP	T	T	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chrX:53966853T>A	ENST00000357988.5	-	21	3212	c.2854A>T	c.(2854-2856)Aca>Tca	p.T952S	PHF8_ENST00000338154.6_Missense_Mutation_p.T916S|PHF8_ENST00000338946.6_Missense_Mutation_p.T815S	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	952					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTGGTACTGTCAGACTGAGA	0.532																																						dbGAP											0													120.0	92.0	101.0					X																	53966853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2854A>T	X.37:g.53966853T>A	ENSP00000350676:p.Thr952Ser		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.T952S	ENST00000357988.5	37	c.2854	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.267|0.267	-0.995469|-0.995469	0.02145|0.02145	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277|ENST00000396282	T;T;T|.	0.17854|.	2.51;2.25;2.26|.	5.28|5.28	-3.47|-3.47	0.04753|0.04753	.|.	0.607539|.	0.16583|.	N|.	0.208115|.	T|.	0.21227|.	0.0511|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.15473|.	0.008;0.013;0.008|.	B;B;B|.	0.17098|.	0.004;0.017;0.007|.	T|.	0.35325|.	-0.9793|.	10|.	0.02654|.	T|.	1|.	-0.0086|-0.0086	8.0631|8.0631	0.30644|0.30644	0.0:0.3971:0.3959:0.207|0.0:0.3971:0.3959:0.207	.|.	815;851;952|.	B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;PHF8_HUMAN|.	S|C	952;916;815;845|819	ENSP00000350676:T952S;ENSP00000338868:T916S;ENSP00000340051:T815S|.	ENSP00000338868:T916S|.	T|X	-|-	1|3	0|0	PHF8|PHF8	53983578|53983578	0.284000|0.284000	0.24287|0.24287	0.181000|0.181000	0.23098|0.23098	0.261000|0.261000	0.26267|0.26267	0.305000|0.305000	0.19254|0.19254	-0.284000|-0.284000	0.09102|0.09102	0.352000|0.352000	0.21897|0.21897	ACA|TGA	PHF8	-	NULL	ENSG00000172943		0.532	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	78	0.00	0	T	NM_015107		53966853	53966853	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	missense	46	17.86	10	SNP	0.012	A
PLCH1	23007	genome.wustl.edu	37	3	155210555	155210555	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr3:155210555G>A	ENST00000340059.7	-	17	2233	c.2234C>T	c.(2233-2235)cCc>cTc	p.P745L	PLCH1_ENST00000460012.1_Missense_Mutation_p.P727L|PLCH1_ENST00000414191.1_Missense_Mutation_p.P727L|PLCH1_ENST00000447496.2_Missense_Mutation_p.P745L|PLCH1_ENST00000334686.6_Missense_Mutation_p.P727L|PLCH1_ENST00000494598.1_Missense_Mutation_p.P745L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	745	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGAGGTTTGGGGAGTTGCTG	0.453																																						dbGAP											0													172.0	140.0	151.0					3																	155210555		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2234C>T	3.37:g.155210555G>A	ENSP00000345988:p.Pro745Leu		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.P745L	ENST00000340059.7	37	c.2234	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.520830	0.96416	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.95	5.95	0.96441	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	D	0.88058	0.6335	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.97110	1.0;1.0;0.979	D	0.88972	0.3401	10	0.66056	D	0.02	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	727;745;745	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	745;727;745;745;727;727	ENSP00000419100:P745L;ENSP00000417502:P727L;ENSP00000402759:P745L;ENSP00000345988:P745L;ENSP00000335469:P727L;ENSP00000412977:P727L	ENSP00000335469:P727L	P	-	2	0	PLCH1	156693249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.731000	0.98807	2.824000	0.97209	0.655000	0.94253	CCC	PLCH1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000114805		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	96	0.00	0	G	NM_014996		155210555	155210555	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	missense	86	14.00	14	SNP	1.000	A
PLEKHD1	400224	genome.wustl.edu	37	14	69969563	69969563	+	Silent	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr14:69969563C>G	ENST00000322564.7	+	6	734	c.522C>G	c.(520-522)acC>acG	p.T174T		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	174										breast(1)|endometrium(1)|kidney(2)	4						TGGAAGAGACCGAAGAACTCT	0.537																																						dbGAP											0													102.0	98.0	99.0					14																	69969563		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.522C>G	14.37:g.69969563C>G			B9EJC2	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T174	ENST00000322564.7	37	c.522	CCDS53903.1	14																																																																																			PLEKHD1	-	NULL	ENSG00000175985		0.537	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHD1	HGNC	protein_coding	OTTHUMT00000412451.2	37	0.00	0	C	NM_001161498		69969563	69969563	+1	no_errors	ENST00000322564	ensembl	human	known	69_37n	silent	35	14.63	6	SNP	0.001	G
PLEKHM3	389072	genome.wustl.edu	37	2	208865794	208865794	+	Missense_Mutation	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr2:208865794C>A	ENST00000427836.2	-	2	1059	c.570G>T	c.(568-570)ttG>ttT	p.L190F	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.L190F|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.L190F	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	190					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGGTGAGGGCAACAGAAAAG	0.428																																						dbGAP											0													33.0	36.0	35.0					2																	208865794		2046	4212	6258	-	-	-	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.570G>T	2.37:g.208865794C>A	ENSP00000417003:p.Leu190Phe		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L190F	ENST00000427836.2	37	c.570	CCDS42808.1	2	.	.	.	.	.	.	.	.	.	.	C	8.251	0.809033	0.16537	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.83673	-1.73;-1.73;-1.75	5.21	-2.45	0.06481	.	1.007520	0.07996	N	0.987928	T	0.62853	0.2462	N	0.14661	0.345	0.09310	N	1	B;B	0.28512	0.214;0.07	B;B	0.28784	0.094;0.058	T	0.50215	-0.8854	10	0.24483	T	0.36	.	2.1193	0.03722	0.1433:0.1864:0.142:0.5282	.	190;190	C9J119;Q6ZWE6	.;PKHM3_HUMAN	F	190	ENSP00000417003:L190F;ENSP00000373899:L190F;ENSP00000400150:L190F	ENSP00000373899:L190F	L	-	3	2	PLEKHM3	208574039	0.000000	0.05858	0.004000	0.12327	0.994000	0.84299	-0.398000	0.07259	-0.250000	0.09555	0.549000	0.68633	TTG	PLEKHM3	-	NULL	ENSG00000178385		0.428	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	79	0.00	0	C	NM_001080475		208865794	208865794	-1	no_errors	ENST00000427836	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	0.000	A
POGZ	23126	genome.wustl.edu	37	1	151377893	151377893	+	Missense_Mutation	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:151377893C>G	ENST00000271715.2	-	19	3932	c.3618G>C	c.(3616-3618)gaG>gaC	p.E1206D	POGZ_ENST00000409503.1_Missense_Mutation_p.E1197D|POGZ_ENST00000531094.1_Missense_Mutation_p.E1144D|POGZ_ENST00000392723.1_Missense_Mutation_p.E1153D|POGZ_ENST00000491586.1_Missense_Mutation_p.E1162D|POGZ_ENST00000368863.2_Missense_Mutation_p.E1111D|POGZ_ENST00000540984.1_Missense_Mutation_p.E568D|POGZ_ENST00000361398.3_Missense_Mutation_p.E1153D	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1206	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGACCACAGCTCCATGATCT	0.517																																						dbGAP											0													128.0	112.0	117.0					1																	151377893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3618G>C	1.37:g.151377893C>G	ENSP00000271715:p.Glu1206Asp		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.E1206D	ENST00000271715.2	37	c.3618	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240263	0.39598	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.46	4.55	0.56014	.	0.000000	0.64402	D	0.000002	T	0.42653	0.1212	L	0.29908	0.895	0.39930	D	0.974273	D;P;D;D;D;P	0.61697	0.979;0.788;0.99;0.99;0.974;0.788	D;B;D;D;D;P	0.74023	0.982;0.417;0.979;0.979;0.969;0.548	T	0.50750	-0.8791	10	0.72032	D	0.01	-21.3553	9.3731	0.38266	0.0:0.8384:0.0:0.1616	.	1144;1197;1111;1162;1153;1206	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	D	1153;1206;1153;1111;1197;1144;568;1162	ENSP00000376484:E1153D;ENSP00000271715:E1206D;ENSP00000354467:E1153D;ENSP00000357856:E1111D;ENSP00000386836:E1197D;ENSP00000431259:E1144D;ENSP00000443547:E568D;ENSP00000418408:E1162D	ENSP00000271715:E1206D	E	-	3	2	POGZ	149644517	0.985000	0.35326	1.000000	0.80357	0.904000	0.53231	0.459000	0.21908	1.546000	0.49388	-0.229000	0.12294	GAG	POGZ	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000143442		0.517	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	59	0.00	0	C	NM_207171		151377893	151377893	-1	no_errors	ENST00000271715	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	1.000	G
PRDM10	56980	genome.wustl.edu	37	11	129817174	129817174	+	Missense_Mutation	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr11:129817174C>A	ENST00000360871.3	-	5	617	c.386G>T	c.(385-387)aGa>aTa	p.R129I	PRDM10_ENST00000528746.1_Missense_Mutation_p.R103I|PRDM10_ENST00000423662.2_Missense_Mutation_p.R43I|PRDM10_ENST00000358825.5_Missense_Mutation_p.R129I|PRDM10_ENST00000304538.6_Missense_Mutation_p.R43I|PRDM10_ENST00000526082.1_Missense_Mutation_p.R43I	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	129					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)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGCCTCCAGTCTGCCTAGAGG	0.557																																						dbGAP											0													220.0	128.0	159.0					11																	129817174		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.386G>T	11.37:g.129817174C>A	ENSP00000354118:p.Arg129Ile		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R129I	ENST00000360871.3	37	c.386	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973294	0.53614	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000527581	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.39	5.39	0.77823	.	0.358348	0.29424	N	0.012198	T	0.35799	0.0944	N	0.19112	0.55	0.42130	D	0.991462	P;D;P;P;P;P;P	0.53151	0.761;0.958;0.681;0.553;0.846;0.681;0.681	B;P;B;B;B;B;B	0.47981	0.154;0.563;0.221;0.11;0.295;0.221;0.221	T	0.23726	-1.0180	10	0.72032	D	0.01	-9.6115	12.8222	0.57700	0.0:0.9253:0.0:0.0747	.	43;129;129;129;43;43;43	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	I	129;43;129;43;103;43;109	ENSP00000351686:R129I;ENSP00000302669:R43I;ENSP00000354118:R129I;ENSP00000398431:R43I;ENSP00000431262:R103I;ENSP00000432237:R43I;ENSP00000432093:R109I	ENSP00000302669:R43I	R	-	2	0	PRDM10	129322384	0.978000	0.34361	0.865000	0.33974	0.953000	0.61014	3.079000	0.50104	2.679000	0.91253	0.650000	0.86243	AGA	PRDM10	-	NULL	ENSG00000170325		0.557	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	104	0.00	0	C	NM_199437		129817174	129817174	-1	no_errors	ENST00000358825	ensembl	human	known	69_37n	missense	70	18.60	16	SNP	0.765	A
RAP2B	5912	genome.wustl.edu	37	3	152880777	152880777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr3:152880777C>T	ENST00000323534.2	+	1	749	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	99					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CATGCGGGACCAGATCATCCG	0.617																																						dbGAP											0													100.0	87.0	91.0					3																	152880777		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.295C>T	3.37:g.152880777C>T	ENSP00000319096:p.Gln99*		P17964|Q96EG5|Q9CXG0	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q99*	ENST00000323534.2	37	c.295	CCDS3170.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.643458	0.98897	.	.	ENSG00000181467	ENST00000323534	.	.	.	4.67	4.67	0.58626	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.3249	0.82975	0.0:1.0:0.0:0.0	.	.	.	.	X	99	.	ENSP00000319096:Q99X	Q	+	1	0	RAP2B	154363467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.446000	0.80609	2.412000	0.81896	0.563000	0.77884	CAG	RAP2B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000181467		0.617	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2B	HGNC	protein_coding	OTTHUMT00000356707.1	26	0.00	0	C	NM_002886		152880777	152880777	+1	no_errors	ENST00000323534	ensembl	human	known	69_37n	nonsense	14	33.33	7	SNP	1.000	T
RNASE9	390443	genome.wustl.edu	37	14	21024763	21024763	+	Missense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr14:21024763C>T	ENST00000557068.1	-	4	2191	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	RNASE9_ENST00000338904.3_Missense_Mutation_p.E156K|RNASE9_ENST00000555230.1_Missense_Mutation_p.E156K|RNASE9_ENST00000557209.1_Missense_Mutation_p.E161K|RNASE9_ENST00000554964.1_Missense_Mutation_p.E156K|RNASE9_ENST00000556208.1_Missense_Mutation_p.E161K|RNASE9_ENST00000404716.3_Missense_Mutation_p.E161K|RNASE9_ENST00000553541.1_Missense_Mutation_p.E156K|RNASE9_ENST00000429244.2_Missense_Mutation_p.E156K|RNASE9_ENST00000553706.1_Missense_Mutation_p.E161K			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	156						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TAAAGTGATTCGTATTTACAC	0.368																																						dbGAP											0													104.0	88.0	93.0					14																	21024763		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.466G>A	14.37:g.21024763C>T	ENSP00000451565:p.Glu156Lys		A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.E156K	ENST00000557068.1	37	c.466	CCDS32036.1	14	.	.	.	.	.	.	.	.	.	.	C	4.354	0.065127	0.08388	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	T;T;T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	3.73	-5.17	0.02849	Ribonuclease A, domain (3);	.	.	.	.	T	0.47078	0.1426	L	0.34521	1.04	0.09310	N	1	B;B	0.16166	0.016;0.013	B;B	0.12837	0.008;0.004	T	0.46373	-0.9196	9	0.02654	T	1	-8.4126	6.0915	0.19997	0.0:0.1945:0.2681:0.5374	.	156;161	P60153;P60153-2	RNAS9_HUMAN;.	K	156;156;156;156;161;161;156;156;161;161	ENSP00000340162:E156K;ENSP00000450599:E156K;ENSP00000450800:E156K;ENSP00000451565:E156K;ENSP00000384683:E161K;ENSP00000451160:E161K;ENSP00000451285:E156K;ENSP00000409504:E156K;ENSP00000450570:E161K;ENSP00000450987:E161K	ENSP00000340162:E156K	E	-	1	0	RNASE9	20094603	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.712000	0.05013	-1.307000	0.02321	-1.080000	0.02220	GAA	RNASE9	-	pfam_RNaseA_domain,superfamily_RNaseA_domain	ENSG00000188655		0.368	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RNASE9	HGNC	protein_coding	OTTHUMT00000411094.1	61	0.00	0	C	NM_001001673		21024763	21024763	-1	no_errors	ENST00000338904	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	0.000	T
ROS1	6098	genome.wustl.edu	37	6	117632212	117632212	+	Silent	SNP	G	G	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr6:117632212G>C	ENST00000368508.3	-	39	6402	c.6204C>G	c.(6202-6204)gtC>gtG	p.V2068V	ROS1_ENST00000368507.3_Silent_p.V2062V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2068	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTTCCAAGTAGACACAGCCTT	0.388			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	dbGAP		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													143.0	134.0	137.0					6																	117632212		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6204C>G	6.37:g.117632212G>C			Q15368|Q5TDB5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.V2068	ENST00000368508.3	37	c.6204	CCDS5116.1	6																																																																																			ROS1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000047936		0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	49	0.00	0	G			117632212	117632212	-1	no_errors	ENST00000368508	ensembl	human	known	69_37n	silent	51	16.39	10	SNP	0.999	C
RYR3	6263	genome.wustl.edu	37	15	33955918	33955918	+	Missense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr15:33955918C>T	ENST00000389232.4	+	36	5669	c.5599C>T	c.(5599-5601)Cgc>Tgc	p.R1867C	RYR3_ENST00000415757.3_Missense_Mutation_p.R1867C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1867	4 X approximate repeats.				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)		CAAGGAGTTCCGCTCACCCCC	0.552																																						dbGAP											0													28.0	29.0	29.0					15																	33955918		1976	4143	6119	-	-	-	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.5599C>T	15.37:g.33955918C>T	ENSP00000373884:p.Arg1867Cys		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,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,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_2,pfscan_MIR_motif	p.R1867C	ENST00000389232.4	37	c.5599	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376579	0.61735	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74632	-0.86;-0.86	5.27	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.86973	0.6062	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.88823	0.3300	10	0.87932	D	0	.	15.417	0.74977	0.1393:0.8607:0.0:0.0	.	1867;1867	Q15413-2;Q15413	.;RYR3_HUMAN	C	1867	ENSP00000373884:R1867C;ENSP00000399610:R1867C	ENSP00000354735:R1867C	R	+	1	0	RYR3	31743210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.547000	0.60712	2.729000	0.93468	0.561000	0.74099	CGC	RYR3	-	NULL	ENSG00000198838		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	26	0.00	0	C			33955918	33955918	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	T
SCML2	10389	genome.wustl.edu	37	X	18342120	18342120	+	Missense_Mutation	SNP	T	T	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chrX:18342120T>C	ENST00000251900.4	-	5	415	c.256A>G	c.(256-258)Att>Gtt	p.I86V		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	86					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GTAATTCCAATAACCGTAGCA	0.443																																					Esophageal Squamous(100;1252 1965 19021 35517)	dbGAP											0													101.0	85.0	90.0					X																	18342120		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.256A>G	X.37:g.18342120T>C	ENSP00000251900:p.Ile86Val		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.I86V	ENST00000251900.4	37	c.256	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.913801	0.00503	.	.	ENSG00000102098	ENST00000251900;ENST00000442000	T	0.27402	1.67	4.64	-1.48	0.08745	.	0.318671	0.36665	N	0.002465	T	0.09905	0.0243	N	0.04043	-0.29	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.42361	-0.9456	10	0.02654	T	1	.	9.7017	0.40192	0.0:0.2987:0.0:0.7013	.	54;86	B4DZR9;Q9UQR0	.;SCML2_HUMAN	V	86;54	ENSP00000251900:I86V	ENSP00000251900:I86V	I	-	1	0	SCML2	18252041	0.252000	0.23972	0.054000	0.19295	0.260000	0.26232	0.635000	0.24629	-0.288000	0.09051	-0.537000	0.04273	ATT	SCML2	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000102098		0.443	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	HGNC	protein_coding	OTTHUMT00000055941.1	57	0.00	0	T	NM_006089		18342120	18342120	-1	no_errors	ENST00000251900	ensembl	human	known	69_37n	missense	43	25.86	15	SNP	0.394	C
SLC24A4	123041	genome.wustl.edu	37	14	92792293	92792293	+	Missense_Mutation	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr14:92792293C>A	ENST00000532405.1	+	2	438	c.212C>A	c.(211-213)aCa>aAa	p.T71K	SLC24A4_ENST00000298877.1_Missense_Mutation_p.T54K|SLC24A4_ENST00000531433.1_Missense_Mutation_p.T71K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.T7K|SLC24A4_ENST00000351924.5_Missense_Mutation_p.T54K			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	71					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTGAATGGGACACAGACAGCC	0.483																																					NSCLC(10;315 435 10383 28450 38798)	dbGAP											0													95.0	89.0	91.0					14																	92792293		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.212C>A	14.37:g.92792293C>A	ENSP00000431840:p.Thr71Lys		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.T71K	ENST00000532405.1	37	c.212	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818891	0.16607	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.67345	-0.26;0.14;0.12;-0.26;-0.25	5.71	5.71	0.89125	.	0.322130	0.24876	N	0.034895	T	0.48277	0.1491	N	0.14661	0.345	0.50632	D	0.999881	B;B	0.21071	0.051;0.01	B;B	0.13407	0.009;0.005	T	0.45175	-0.9279	10	0.08381	T	0.77	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	71;71	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	K	7;71;71;54;54	ENSP00000376948:T7K;ENSP00000433302:T71K;ENSP00000431840:T71K;ENSP00000298877:T54K;ENSP00000337789:T54K	ENSP00000298877:T54K	T	+	2	0	SLC24A4	91862046	0.983000	0.35010	0.764000	0.31436	0.954000	0.61252	2.751000	0.47508	2.698000	0.92095	0.561000	0.74099	ACA	SLC24A4	-	NULL	ENSG00000140090		0.483	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	44	0.00	0	C	NM_153646		92792293	92792293	+1	no_errors	ENST00000532405	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	0.969	A
SMEK2	57223	genome.wustl.edu	37	2	55795499	55795499	+	Splice_Site	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr2:55795499C>T	ENST00000345102.5	-	13	2067	c.1766G>A	c.(1765-1767)tGt>tAt	p.C589Y	SMEK2_ENST00000272313.5_Splice_Site_p.G504D|SMEK2_ENST00000407823.3_Splice_Site_p.C557Y|SNORA12_ENST00000390873.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	589					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCGAAGGGCACCTAATTAAAA	0.303																																						dbGAP											0													40.0	44.0	43.0					2																	55795499		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1766-1G>A	2.37:g.55795499C>T			Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.G504D	ENST00000345102.5	37	c.1511	CCDS46289.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.90|18.90	3.722609|3.722609	0.68959|0.68959	.|.	.|.	ENSG00000138041|ENSG00000138041	ENST00000407823;ENST00000345102|ENST00000272313	T;T|T	0.50001|0.41758	0.76;0.76|0.99	4.19|4.19	4.19|4.19	0.49359|0.49359	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47358|0.47358	0.1441|0.1441	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;P|B	0.65815|0.02656	0.994;0.995;0.864|0.0	P;P;P|B	0.60789|0.01281	0.879;0.862;0.771|0.0	T|T	0.48958|0.48958	-0.8988|-0.8988	10|9	0.87932|0.36615	D|T	0|0.2	.|.	17.8474|17.8474	0.88734|0.88734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	557;589;23|504	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-5|Q5MIZ7-3	.;P4R3B_HUMAN;.|.	Y|D	557;589|504	ENSP00000385912:C557Y;ENSP00000339769:C589Y|ENSP00000272313:G504D	ENSP00000339769:C589Y|ENSP00000272313:G504D	C|G	-|-	2|2	0|0	SMEK2|SMEK2	55649003|55649003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.855000|0.855000	0.48748|0.48748	7.818000|7.818000	0.86416|0.86416	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	TGT|GGT	SMEK2	-	superfamily_ARM-type_fold	ENSG00000138041		0.303	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	34	0.00	0	C	NM_020463	Missense_Mutation	55795499	55795499	-1	no_errors	ENST00000272313	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	T
SNAPC4	6621	genome.wustl.edu	37	9	139273620	139273620	+	Frame_Shift_Del	DEL	G	G	-	rs571194015		TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr9:139273620delG	ENST00000298532.2	-	21	3027	c.2659delC	c.(2659-2661)cggfs	p.R887fs		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCTTGGGCCGGGGGCCGGTT	0.697																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2659delC	9.37:g.139273620delG	ENSP00000298532:p.Arg887fs			Frame_Shift_Del	DEL	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R887fs	ENST00000298532.2	37	c.2659	CCDS6998.1	9																																																																																			SNAPC4	-	NULL	ENSG00000165684		0.697	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	18	0.00	0	G	NM_003086		139273620	139273620	-1	no_errors	ENST00000298532	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	0.828	-
SNX7	51375	genome.wustl.edu	37	1	99157223	99157223	+	Missense_Mutation	SNP	G	G	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:99157223G>C	ENST00000306121.3	+	4	616	c.607G>C	c.(607-609)Gac>Cac	p.D203H	SNX7_ENST00000529992.1_Intron|SNX7_ENST00000370189.5_Missense_Mutation_p.D139H	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	139					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.D139Y(1)|p.D203Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		ATTTAATGAAGACTTCAAAAT	0.338																																						dbGAP											2	Substitution - Missense(2)	lung(2)											76.0	77.0	77.0					1																	99157223		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.607G>C	1.37:g.99157223G>C	ENSP00000304429:p.Asp203His		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.D203H	ENST00000306121.3	37	c.607	CCDS755.2	1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596050	0.28445	.	.	ENSG00000162627	ENST00000370189;ENST00000306121	T;T	0.39229	1.09;1.09	5.71	5.71	0.89125	.	0.046534	0.85682	D	0.000000	T	0.19846	0.0477	N	0.17901	0.54	0.80722	D	1	B;B	0.22604	0.061;0.072	B;B	0.24006	0.031;0.05	T	0.03957	-1.0989	10	0.27785	T	0.31	-26.9383	19.8476	0.96716	0.0:0.0:1.0:0.0	.	203;139	Q9UNH6-3;Q9UNH6-2	.;.	H	139;203	ENSP00000359208:D139H;ENSP00000304429:D203H	ENSP00000304429:D203H	D	+	1	0	SNX7	98929811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.137000	0.71710	2.710000	0.92621	0.650000	0.86243	GAC	SNX7	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000162627		0.338	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX7	HGNC	protein_coding	OTTHUMT00000029609.2	71	0.00	0	G			99157223	99157223	+1	no_errors	ENST00000306121	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	C
SPTBN2	6712	genome.wustl.edu	37	11	66458790	66458791	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr11:66458790_66458791delCA	ENST00000533211.1	-	27	5860_5861	c.5529_5530delTG	c.(5527-5532)tgtgccfs	p.A1844fs	SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.A1844fs|SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.A1844fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1844					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTCGTAGGCACAGTGTCGGC	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5529_5530delTG	11.37:g.66458792_66458793delCA	ENSP00000432568:p.Ala1844fs		O14872|O14873	Frame_Shift_Del	DEL	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.A1844fs	ENST00000533211.1	37	c.5530_5529	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.673	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	13	0.00	0	CA	NM_006946		66458790	66458791	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	frame_shift_del	11	25.00	4	DEL	1.000:0.996	-
SRM	6723	genome.wustl.edu	37	1	11119330	11119330	+	Missense_Mutation	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:11119330C>G	ENST00000376957.2	-	2	320	c.240G>C	c.(238-240)caG>caC	p.Q80H		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	80	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CGATCATCTCCTGGTAGGAGA	0.632																																						dbGAP											0													114.0	99.0	104.0					1																	11119330		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.240G>C	1.37:g.11119330C>G	ENSP00000366156:p.Gln80His		B1AKP9|Q15511	Missense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.Q80H	ENST00000376957.2	37	c.240	CCDS125.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068201	0.76301	.	.	ENSG00000116649	ENST00000376957	T	0.74002	-0.8	4.3	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	N	0.16656	0.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71381	-0.4610	10	0.39692	T	0.17	.	9.7215	0.40306	0.0:0.8969:0.0:0.1031	.	80	P19623	SPEE_HUMAN	H	80	ENSP00000366156:Q80H	ENSP00000366156:Q80H	Q	-	3	2	SRM	11041917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.571000	0.36450	0.997000	0.38969	0.448000	0.29417	CAG	SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	ENSG00000116649		0.632	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1	33	0.00	0	C	NM_003132		11119330	11119330	-1	no_errors	ENST00000376957	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	1.000	G
SSTR5	6755	genome.wustl.edu	37	16	1129135	1129135	+	Silent	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr16:1129135C>T	ENST00000293897.4	+	1	355	c.267C>T	c.(265-267)taC>taT	p.Y89Y	SSTR5_ENST00000562758.1_Silent_p.Y89Y|SSTR5_ENST00000397547.2_Silent_p.Y89Y|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	89					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ACGTCCTGTACATGCTGGGGC	0.632																																						dbGAP											0													77.0	59.0	65.0					16																	1129135		2194	4298	6492	-	-	-	SO:0001819	synonymous_variant	0			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.267C>T	16.37:g.1129135C>T			P34988|Q541E0|Q9UJI5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.Y89	ENST00000293897.4	37	c.267	CCDS10429.1	16																																																																																			SSTR5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000162009		0.632	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR5	HGNC	protein_coding	OTTHUMT00000420836.1	22	0.00	0	C			1129135	1129135	+1	no_errors	ENST00000293897	ensembl	human	known	69_37n	silent	11	35.29	6	SNP	1.000	T
STK31	56164	genome.wustl.edu	37	7	23793941	23793941	+	Missense_Mutation	SNP	G	G	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:23793941G>T	ENST00000355870.3	+	10	1260	c.1141G>T	c.(1141-1143)Gac>Tac	p.D381Y	STK31_ENST00000428484.1_Missense_Mutation_p.D358Y|STK31_ENST00000354639.3_Missense_Mutation_p.D358Y|STK31_ENST00000433467.2_Missense_Mutation_p.D381Y|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	381						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAGGCATGTCGACATCAGTGT	0.338																																						dbGAP											0													112.0	107.0	109.0					7																	23793941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1141G>T	7.37:g.23793941G>T	ENSP00000348132:p.Asp381Tyr		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.D381Y	ENST00000355870.3	37	c.1141	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	G	6.474	0.455568	0.12283	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.96	3.5	0.40072	.	0.516808	0.21568	N	0.072449	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B;B	0.31100	0.308;0.046	B;B	0.17722	0.019;0.007	T	0.28299	-1.0048	10	0.66056	D	0.02	-2.06	7.9679	0.30111	0.8364:0.0:0.1636:0.0	.	381;381	B4DZ06;Q9BXU1	.;STK31_HUMAN	Y	381;381;358;358	ENSP00000348132:D381Y;ENSP00000411852:D381Y;ENSP00000346660:D358Y;ENSP00000406146:D358Y	ENSP00000346660:D358Y	D	+	1	0	STK31	23760466	0.044000	0.20184	0.445000	0.26908	0.017000	0.09413	2.120000	0.41968	1.071000	0.40834	-0.438000	0.05819	GAC	STK31	-	NULL	ENSG00000196335		0.338	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	69	0.00	0	G	NM_031414		23793941	23793941	+1	no_errors	ENST00000355870	ensembl	human	known	69_37n	missense	59	18.06	13	SNP	0.135	T
TTC28	23331	genome.wustl.edu	37	22	28397319	28397319	+	Intron	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr22:28397319C>A	ENST00000397906.2	-	15	4540				TTC28-AS1_ENST00000428584.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000426594.1_RNA|TTC28-AS1_ENST00000433317.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28						mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CCTCGTGACCCGAAAACAAGC	0.572																																						dbGAP											0													25.0	28.0	27.0					22																	28397319		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.4398+42G>T	22.37:g.28397319C>A			K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	RNA	SNP	-	NULL	ENST00000397906.2	37	NULL	CCDS46678.1	22																																																																																			TTC28-AS1	-	-	ENSG00000235954		0.572	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28-AS1	HGNC	protein_coding	OTTHUMT00000320930.2	33	0.00	0	C	XM_929318		28397319	28397319	+1	no_errors	ENST00000428584	ensembl	human	known	69_37n	rna	12	29.41	5	SNP	0.000	A
TTN	7273	genome.wustl.edu	37	2	179442485	179442485	+	Missense_Mutation	SNP	T	T	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr2:179442485T>C	ENST00000591111.1	-	273	63969	c.63745A>G	c.(63745-63747)Aaa>Gaa	p.K21249E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K13950E|TTN_ENST00000342175.6_Missense_Mutation_p.K14017E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K13825E|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K22890E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20322E			Q8WZ42	TITIN_HUMAN	titin	21249	Fibronectin type-III 54. {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)			TGGTTGGCTTTCATCCAAGAC	0.403																																						dbGAP											0													173.0	153.0	160.0					2																	179442485		1936	4136	6072	-	-	-	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.63745A>G	2.37:g.179442485T>C	ENSP00000465570:p.Lys21249Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K20322E	ENST00000591111.1	37	c.60964		2	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629000	0.46944	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.68	5.68	0.88126	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69735	0.3144	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.72686	-0.4218	9	0.87932	D	0	.	15.9266	0.79621	0.0:0.0:0.0:1.0	.	13825;13950;14017;21249	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	20322;13825;14017;13950;13823	ENSP00000343764:K20322E;ENSP00000434586:K13825E;ENSP00000340554:K14017E;ENSP00000352154:K13950E	ENSP00000340554:K14017E	K	-	1	0	TTN	179150731	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.179000	0.69175	0.477000	0.44152	AAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	82	0.00	0	T	NM_133378		179442485	179442485	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179474059	179474059	+	Missense_Mutation	SNP	G	G	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr2:179474059G>T	ENST00000591111.1	-	223	47279	c.47055C>A	c.(47053-47055)aaC>aaA	p.N15685K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N8386K|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N8453K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N8261K|TTN_ENST00000589042.1_Missense_Mutation_p.N17326K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N14758K			Q8WZ42	TITIN_HUMAN	titin	15685	Ig-like 98.				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)			CCTTTTTGCTGTTGTCAATAC	0.458																																						dbGAP											0													132.0	128.0	129.0					2																	179474059		1950	4156	6106	-	-	-	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.47055C>A	2.37:g.179474059G>T	ENSP00000465570:p.Asn15685Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N14758K	ENST00000591111.1	37	c.44274		2	.	.	.	.	.	.	.	.	.	.	g	0.645	-0.811913	0.02798	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.72	-11.4	0.00090	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63558	0.2521	L	0.58101	1.795	0.22601	N	0.99894	P;P;P;P	0.36683	0.565;0.565;0.565;0.565	B;B;B;B	0.40825	0.341;0.341;0.341;0.341	T	0.72060	-0.4404	9	0.87932	D	0	.	18.5721	0.91138	0.2708:0.0687:0.6605:0.0	.	8261;8386;8453;15685	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	14758;8261;8453;8386;8261	ENSP00000343764:N14758K;ENSP00000434586:N8261K;ENSP00000340554:N8453K;ENSP00000352154:N8386K	ENSP00000340554:N8453K	N	-	3	2	TTN	179182304	0.108000	0.22018	0.008000	0.14137	0.016000	0.09150	-0.745000	0.04834	-3.356000	0.00180	-3.186000	0.00055	AAC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	99	0.00	0	G	NM_133378		179474059	179474059	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	0.077	T
TTPA	7274	genome.wustl.edu	37	8	63978530	63978530	+	Missense_Mutation	SNP	C	C	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr8:63978530C>A	ENST00000260116.4	-	3	516	c.485G>T	c.(484-486)gGt>gTt	p.G162V	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	162	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AAACTGCCAACCTTCCAGATC	0.403																																						dbGAP											0													127.0	113.0	118.0					8																	63978530		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.485G>T	8.37:g.63978530C>A	ENSP00000260116:p.Gly162Val		Q71V64	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.G162V	ENST00000260116.4	37	c.485	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012993	0.75161	.	.	ENSG00000137561	ENST00000260116	D	0.89552	-2.53	5.54	4.67	0.58626	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.048175	0.85682	D	0.000000	D	0.94928	0.8360	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95029	0.8167	10	0.49607	T	0.09	.	14.3352	0.66584	0.0:0.9287:0.0:0.0713	.	162	P49638	TTPA_HUMAN	V	162	ENSP00000260116:G162V	ENSP00000260116:G162V	G	-	2	0	TTPA	64141084	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.500000	0.66943	1.343000	0.45638	0.655000	0.94253	GGT	TTPA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000137561		0.403	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	42	0.00	0	C	NM_000370		63978530	63978530	-1	no_errors	ENST00000260116	ensembl	human	known	69_37n	missense	74	14.94	13	SNP	0.999	A
USP3	9960	genome.wustl.edu	37	15	63866266	63866266	+	Silent	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr15:63866266C>T	ENST00000380324.3	+	10	1059	c.930C>T	c.(928-930)gtC>gtT	p.V310V	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000539772.1_Silent_p.V61V|USP3_ENST00000540797.1_Silent_p.V266V|USP3_ENST00000558285.1_Silent_p.V293V|USP3_ENST00000559711.1_Silent_p.V221V|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000268049.7_Silent_p.V288V|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	310	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CTACTGTTGTCACGGCTATAT	0.363																																						dbGAP											0													106.0	103.0	104.0					15																	63866266		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.930C>T	15.37:g.63866266C>T			B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Peptidase_C19	p.S233L	ENST00000380324.3	37	c.698	CCDS32265.1	15																																																																																			USP3	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000140455		0.363	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP3	HGNC	protein_coding	OTTHUMT00000417773.1	68	0.00	0	C			63866266	63866266	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559257	ensembl	human	known	69_37n	missense	54	30.38	24	SNP	1.000	T
USP3	9960	genome.wustl.edu	37	15	63866545	63866545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr15:63866545C>T	ENST00000380324.3	+	11	1168	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000539772.1_Nonsense_Mutation_p.Q98*|USP3_ENST00000540797.1_Nonsense_Mutation_p.Q303*|USP3_ENST00000558285.1_Nonsense_Mutation_p.Q330*|USP3_ENST00000559711.1_Nonsense_Mutation_p.Q258*|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000268049.7_Nonsense_Mutation_p.Q325*|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	347	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TATTCCAAGTCAGTTCAGAAG	0.318																																						dbGAP											0													101.0	102.0	101.0					15																	63866545		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1039C>T	15.37:g.63866545C>T	ENSP00000369681:p.Gln347*		B4DVU5|F5H1A6|Q8WVD0	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.Q347*	ENST00000380324.3	37	c.1039	CCDS32265.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.522506	0.96431	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	303;347;325;98;262;178	.	ENSP00000268049:Q325X	Q	+	1	0	USP3	61653598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	CAG	USP3	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000140455		0.318	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP3	HGNC	protein_coding	OTTHUMT00000417773.1	117	0.00	0	C			63866545	63866545	+1	no_errors	ENST00000380324	ensembl	human	known	69_37n	nonsense	114	28.30	45	SNP	1.000	T
USP39	10713	genome.wustl.edu	37	2	85850804	85850804	+	Missense_Mutation	SNP	G	G	A			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr2:85850804G>A	ENST00000323701.6	+	4	479	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	USP39_ENST00000450066.2_Missense_Mutation_p.V54I|USP39_ENST00000409025.1_Missense_Mutation_p.V157I|USP39_ENST00000409470.1_Missense_Mutation_p.V157I|USP39_ENST00000409766.3_Missense_Mutation_p.V157I|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	157					cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATTCACAGTGTCCAGTTTAG	0.468																																						dbGAP											0													333.0	293.0	307.0					2																	85850804		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.469G>A	2.37:g.85850804G>A	ENSP00000312981:p.Val157Ile		A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.V157I	ENST00000323701.6	37	c.469	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022264	0.93462	.	.	ENSG00000168883	ENST00000448971;ENST00000442708;ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T;T;T	0.42131	0.98;0.98;1.56;0.98;0.98;0.98;0.98	5.54	5.54	0.83059	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.056136	0.64402	D	0.000001	T	0.54951	0.1890	L	0.45581	1.43	0.58432	D	0.999997	P;B;D;D;D;P	0.65815	0.901;0.126;0.994;0.995;0.974;0.756	P;B;P;D;P;P	0.63381	0.546;0.104;0.861;0.914;0.869;0.531	T	0.39901	-0.9591	10	0.25751	T	0.34	1.8245	17.326	0.87248	0.0:0.0:1.0:0.0	.	54;79;157;157;157;157	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	I	79;54;54;157;157;157;157;157	ENSP00000396854:V79I;ENSP00000392911:V54I;ENSP00000396133:V54I;ENSP00000386572:V157I;ENSP00000386864:V157I;ENSP00000312981:V157I;ENSP00000386803:V157I	ENSP00000312981:V157I	V	+	1	0	USP39	85704315	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.247000	0.95444	2.767000	0.95098	0.591000	0.81541	GTC	USP39	-	pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP	ENSG00000168883		0.468	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	85	0.00	0	G	NM_006590		85850804	85850804	+1	no_errors	ENST00000409470	ensembl	human	known	69_37n	missense	66	17.50	14	SNP	1.000	A
USP48	84196	genome.wustl.edu	37	1	22084163	22084163	+	Missense_Mutation	SNP	C	C	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr1:22084163C>G	ENST00000308271.9	-	2	896	c.248G>C	c.(247-249)aGa>aCa	p.R83T	USP48_ENST00000421625.2_Missense_Mutation_p.R83T|USP48_ENST00000400301.1_Missense_Mutation_p.R83T|USP48_ENST00000529637.1_Missense_Mutation_p.R83T	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	83					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TACCTTTTTTCTCCTCTCACA	0.348																																						dbGAP											0													110.0	101.0	104.0					1																	22084163		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.248G>C	1.37:g.22084163C>G	ENSP00000309262:p.Arg83Thr		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.R83T	ENST00000308271.9	37	c.248	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925634	0.92319	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.07216	3.23;3.21;3.21;3.42	5.71	5.71	0.89125	.	0.049506	0.85682	D	0.000000	T	0.30070	0.0753	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0;1.0	D;D;P;D;D;D	0.91635	0.991;0.991;0.897;0.999;0.999;0.972	T	0.00402	-1.1762	10	0.87932	D	0	.	18.8507	0.92227	0.0:1.0:0.0:0.0	.	83;83;83;83;83;83	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	T	83	ENSP00000383157:R83T;ENSP00000309262:R83T;ENSP00000431949:R83T;ENSP00000406256:R83T	ENSP00000309262:R83T	R	-	2	0	USP48	21956750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.343000	0.79319	2.689000	0.91719	0.655000	0.94253	AGA	USP48	-	NULL	ENSG00000090686		0.348	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	86	0.00	0	C	NM_032236		22084163	22084163	-1	no_errors	ENST00000308271	ensembl	human	known	69_37n	missense	59	16.67	12	SNP	1.000	G
VPS26B	112936	genome.wustl.edu	37	11	134104809	134104810	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr11:134104809_134104810GG>CT	ENST00000281187.5	+	2	720_721	c.242_243GG>CT	c.(241-243)gGG>gCT	p.G81A	VPS26B_ENST00000525095.2_Missense_Mutation_p.G81A	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	81					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TACGATCGCGGGAACCACCATG	0.599																																					Colon(171;1263 1952 15904 45703 47982)	dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	Exception_encountered	11.37:g.134104809_134104810delinsCT	ENSP00000281187:p.Gly81Ala		Q96A55	Missense_Mutation|Silent	SNP	pfam_VPS26,superfamily_Ig_E-set	p.G81A|p.G81	ENST00000281187.5	37	c.242|c.243	CCDS8495.1	11																																																																																			VPS26B	-	pfam_VPS26,superfamily_Ig_E-set	ENSG00000151502		0.599	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26B	HGNC	protein_coding	OTTHUMT00000393591.1	40	0.00	0	G	NM_052875		134104809|134104810	134104809|134104810	+1	no_errors	ENST00000281187	ensembl	human	known	69_37n	missense|silent	26	18.75	6	SNP	1.000|0.997	C|T
WDR59	79726	genome.wustl.edu	37	16	74946204	74946204	+	Silent	SNP	G	G	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr16:74946204G>C	ENST00000262144.6	-	14	1411	c.1281C>G	c.(1279-1281)gtC>gtG	p.V427V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	427	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCAGCATCTTGACACGATGGT	0.493																																						dbGAP											0													187.0	159.0	168.0					16																	74946204		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1281C>G	16.37:g.74946204G>C			B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V427	ENST00000262144.6	37	c.1281	CCDS32488.1	16																																																																																			WDR59	-	superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000103091		0.493	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	84	0.00	0	G	NM_030581		74946204	74946204	-1	no_errors	ENST00000262144	ensembl	human	known	69_37n	silent	71	20.22	18	SNP	0.996	C
ZC3H13	23091	genome.wustl.edu	37	13	46619585	46619585	+	Missense_Mutation	SNP	T	T	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr13:46619585T>G	ENST00000242848.4	-	2	406	c.58A>C	c.(58-60)Aca>Cca	p.T20P	ZC3H13_ENST00000282007.3_Missense_Mutation_p.T20P			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	20							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTCGGGATGTGCTATCAGAT	0.413																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													227.0	232.0	230.0					13																	46619585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.58A>C	13.37:g.46619585T>G	ENSP00000242848:p.Thr20Pro		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.T20P	ENST00000242848.4	37	c.58		13	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502172	0.44455	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.33654	2.4;1.4	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000024	T	0.36690	0.0976	N	0.08118	0	0.80722	D	1	P;D	0.54397	0.943;0.966	P;P	0.58266	0.69;0.836	T	0.47623	-0.9103	10	0.72032	D	0.01	.	15.6151	0.76760	0.0:0.0:0.0:1.0	.	20;20	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	P	20	ENSP00000242848:T20P;ENSP00000282007:T20P	ENSP00000242848:T20P	T	-	1	0	ZC3H13	45517586	1.000000	0.71417	0.978000	0.43139	0.922000	0.55478	5.799000	0.69101	2.096000	0.63516	0.477000	0.44152	ACA	ZC3H13	-	NULL	ENSG00000123200		0.413	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	123	0.00	0	T	NM_015070		46619585	46619585	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	missense	71	31.07	32	SNP	1.000	G
ZNF333	84449	genome.wustl.edu	37	19	14805918	14805918	+	Missense_Mutation	SNP	G	G	C			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr19:14805918G>C	ENST00000292530.6	+	3	191	c.100G>C	c.(100-102)Gac>Cac	p.D34H	ZNF333_ENST00000601134.1_Missense_Mutation_p.D34H|ZNF333_ENST00000540689.2_Missense_Mutation_p.D34H|ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601629.1_3'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	34	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CAGGATGCTTGACCAGTGCAG	0.572																																					NSCLC(60;75 1281 16985 25154 29885)	dbGAP											0													128.0	103.0	112.0					19																	14805918		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.100G>C	19.37:g.14805918G>C	ENSP00000292530:p.Asp34His		Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D34H	ENST00000292530.6	37	c.100	CCDS12316.1	19	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264551	0.39995	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	T;T	0.01933	4.55;4.55	2.47	2.47	0.30058	Krueppel-associated box (4);	.	.	.	.	T	0.10121	0.0248	M	0.78344	2.41	0.29137	N	0.879248	D;D;D	0.89917	0.989;1.0;0.999	P;D;D	0.69307	0.811;0.957;0.963	T	0.01786	-1.1274	9	0.87932	D	0	.	8.5955	0.33712	0.0:0.0:1.0:0.0	.	34;34;34	Q96JL9;F5H0A3;Q6P2E6	ZN333_HUMAN;.;.	H	34	ENSP00000438130:D34H;ENSP00000292530:D34H	ENSP00000292530:D34H	D	+	1	0	ZNF333	14666918	0.940000	0.31905	0.011000	0.14972	0.011000	0.07611	2.031000	0.41117	1.691000	0.51100	0.655000	0.94253	GAC	ZNF333	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000160961		0.572	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	HGNC	protein_coding	OTTHUMT00000466496.1	55	0.00	0	G	NM_032433		14805918	14805918	+1	no_errors	ENST00000292530	ensembl	human	known	69_37n	missense	52	20.00	13	SNP	0.013	C
ZNF333	84449	genome.wustl.edu	37	19	14829928	14829928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr19:14829928C>T	ENST00000292530.6	+	12	1880	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Nonsense_Mutation_p.R488*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	597					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGAATGCGGGCGAGCCTTTGG	0.527																																					NSCLC(60;75 1281 16985 25154 29885)	dbGAP											0													113.0	103.0	107.0					19																	14829928		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1789C>T	19.37:g.14829928C>T	ENSP00000292530:p.Arg597*		Q6P2E6|Q86WS6|Q8TDL0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R597*	ENST00000292530.6	37	c.1789	CCDS12316.1	19	.	.	.	.	.	.	.	.	.	.	C	42	9.418391	0.99164	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	.	.	.	2.72	0.525	0.17072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	2.6539	0.05007	0.2254:0.5144:0.0:0.2602	.	.	.	.	X	488;597	.	ENSP00000292530:R597X	R	+	1	2	ZNF333	14690928	0.992000	0.36948	0.039000	0.18376	0.966000	0.64601	1.876000	0.39588	0.225000	0.20959	0.655000	0.94253	CGA	ZNF333	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160961		0.527	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	HGNC	protein_coding	OTTHUMT00000466496.1	36	0.00	0	C	NM_032433		14829928	14829928	+1	no_errors	ENST00000292530	ensembl	human	known	69_37n	nonsense	22	29.03	9	SNP	0.877	T
ZNF431	170959	genome.wustl.edu	37	19	21365513	21365513	+	Missense_Mutation	SNP	A	A	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr19:21365513A>G	ENST00000311048.7	+	5	551	c.407A>G	c.(406-408)aAa>aGa	p.K136R	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_Silent_p.Q143Q	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	136					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGATATGGCAAATGTGAACAT	0.353																																						dbGAP											0													79.0	80.0	80.0					19																	21365513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.407A>G	19.37:g.21365513A>G	ENSP00000308578:p.Lys136Arg		A8KAK7|Q8IWC4	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.K136R	ENST00000311048.7	37	c.407	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	4.584	0.108417	0.08780	.	.	ENSG00000196705	ENST00000311048	T	0.06687	3.27	0.362	-0.724	0.11177	.	.	.	.	.	T	0.10337	0.0253	M	0.69523	2.12	0.09310	N	1	P	0.35714	0.517	B	0.37833	0.259	T	0.19910	-1.0291	8	0.48119	T	0.1	.	.	.	.	.	136	Q8TF32	ZN431_HUMAN	R	136	ENSP00000308578:K136R	ENSP00000308578:K136R	K	+	2	0	ZNF431	21157353	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.047000	0.14056	-0.503000	0.06586	-0.511000	0.04467	AAA	ZNF431	-	NULL	ENSG00000196705		0.353	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	59	0.00	0	A	XM_086098		21365513	21365513	+1	no_errors	ENST00000311048	ensembl	human	known	69_37n	missense	47	14.55	8	SNP	0.001	G
ZNF841	284371	genome.wustl.edu	37	19	52579393	52579393	+	Intron	SNP	T	T	G			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr19:52579393T>G	ENST00000426391.2	-	5	475				ZNF841_ENST00000389534.4_Missense_Mutation_p.M59L|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.M59L			Q6ZN19	ZN841_HUMAN	zinc finger protein 841						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(4)|kidney(3)|lung(3)	11						TGCTCCAACATGGAGATAATA	0.463																																						dbGAP											0													86.0	72.0	76.0					19																	52579393		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.77-8530A>C	19.37:g.52579393T>G			B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	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.M59L	ENST00000426391.2	37	c.175		19	.	.	.	.	.	.	.	.	.	.	t	3.144	-0.175581	0.06421	.	.	ENSG00000197608	ENST00000389534	T	0.00695	5.83	2.48	-4.5	0.03493	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43669	-0.9377	8	0.10902	T	0.67	.	1.2818	0.02042	0.1773:0.3795:0.1802:0.263	.	59	Q6ZN19-3	.	L	59	ENSP00000374185:M59L	ENSP00000374185:M59L	M	-	1	0	ZNF841	57271205	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-3.036000	0.00635	-1.407000	0.02043	-0.489000	0.04712	ATG	ZNF841	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197608		0.463	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	82	0.00	0	T	XM_209155		52579393	52579393	-1	no_errors	ENST00000389534	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	0.000	G
ZNF853	54753	genome.wustl.edu	37	7	6661429	6661429	+	Missense_Mutation	SNP	G	G	T			TCGA-GI-A2C8-01A-11D-A16D-09	TCGA-GI-A2C8-11A-22D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	535a899d-67ca-4500-8dda-63a331a3611c	2ec9bc9e-0d87-48ed-bccf-679c08d9c5a4	g.chr7:6661429G>T	ENST00000457543.3	+	3	1365	c.807G>T	c.(805-807)caG>caT	p.Q269H		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	269	Gln-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						tgctggaacagcagcaggcac	0.552																																						dbGAP											0													32.0	43.0	39.0					7																	6661429		692	1590	2282	-	-	-	SO:0001583	missense	0			AL133055	CCDS59048.1	7p22.1	2013-01-08				ENSG00000236609		"""Zinc fingers, C2H2-type"""	21767	protein-coding gene	gene with protein product							Standard	NM_017560		Approved	DKFZp434J1015	uc011jwz.2	P0CG23		ENST00000457543.3:c.807G>T	7.37:g.6661429G>T	ENSP00000455585:p.Gln269His			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q269H	ENST00000457543.3	37	c.807	CCDS59048.1	7																																																																																			ZNF853	-	NULL	ENSG00000236609		0.552	ZNF853-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF853	HGNC	protein_coding	OTTHUMT00000324169.2	70	0.00	0	G	NM_017560		6661429	6661429	+1	no_errors	ENST00000457543	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.035	T
