#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
ABCA8	10351	genome.wustl.edu	37	17	66928618	66928618	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr17:66928618G>A	ENST00000269080.2	-	6	745	c.608C>T	c.(607-609)tCa>tTa	p.S203L	ABCA8_ENST00000430352.2_Missense_Mutation_p.S203L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S203L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	203					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCAGTAACTGACATCAGCTC	0.338																																						dbGAP											0													97.0	94.0	95.0					17																	66928618		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.608C>T	17.37:g.66928618G>A	ENSP00000269080:p.Ser203Leu		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S203L	ENST00000269080.2	37	c.608	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337181	0.60963	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.87571	-2.27;-2.27	4.86	4.86	0.63082	.	0.000000	0.43579	D	0.000551	D	0.91991	0.7463	M	0.74546	2.27	0.35712	D	0.816481	D;D;D;P;D	0.69078	0.996;0.997;0.997;0.84;0.992	D;D;D;P;P	0.68039	0.925;0.955;0.94;0.584;0.907	D	0.93501	0.6844	10	0.44086	T	0.13	.	13.6644	0.62387	0.0:0.0:1.0:0.0	.	142;203;203;203;203	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	L	203;203;142;203	ENSP00000269080:S203L;ENSP00000402814:S203L	ENSP00000269080:S203L	S	-	2	0	ABCA8	64440213	0.994000	0.37717	0.999000	0.59377	0.606000	0.37113	4.098000	0.57748	2.686000	0.91538	0.563000	0.77884	TCA	ABCA8	-	NULL	ENSG00000141338		0.338	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	66	0.00	0	G	NM_007168		66928618	66928618	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	missense	74	24.49	24	SNP	1.000	A
APLF	200558	genome.wustl.edu	37	2	68740758	68740758	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr2:68740758A>T	ENST00000303795.4	+	5	739	c.568A>T	c.(568-570)Atg>Ttg	p.M190L		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	190					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TCCAACTTGGATGTTAGCAGA	0.368																																						dbGAP											0													100.0	102.0	101.0					2																	68740758		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.568A>T	2.37:g.68740758A>T	ENSP00000307004:p.Met190Leu		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.M190L	ENST00000303795.4	37	c.568	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	a	24.9	4.580686	0.86748	.	.	ENSG00000169621	ENST00000303795	T	0.45276	0.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.77103	2.36	0.46185	D	0.998911	D;D	0.67145	0.996;0.994	D;D	0.76071	0.987;0.97	T	0.62756	-0.6787	10	0.31617	T	0.26	.	13.214	0.59844	1.0:0.0:0.0:0.0	.	190;190	F8WET0;Q8IW19	.;APLF_HUMAN	L	190	ENSP00000307004:M190L	ENSP00000307004:M190L	M	+	1	0	APLF	68594262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.429000	0.59901	2.371000	0.80710	0.533000	0.62120	ATG	APLF	-	NULL	ENSG00000169621		0.368	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	67	0.00	0	A	NM_173545		68740758	68740758	+1	no_errors	ENST00000303795	ensembl	human	known	69_37n	missense	67	24.72	22	SNP	1.000	T
APP	351	genome.wustl.edu	37	21	27254037	27254038	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr21:27254037_27254038GC>AA	ENST00000346798.3	-	18	2289_2290	c.2256_2257GC>TT	c.(2254-2259)atGCag>atTTag	p.752_753MQ>I*	APP_ENST00000348990.5_Nonsense_Mutation_p.677_678MQ>I*|APP_ENST00000358918.3_Nonsense_Mutation_p.734_735MQ>I*|APP_ENST00000440126.3_Nonsense_Mutation_p.728_729MQ>I*|APP_ENST00000357903.3_Nonsense_Mutation_p.733_734MQ>I*|APP_ENST00000354192.3_Nonsense_Mutation_p.621_622MQ>I*|APP_ENST00000439274.2_Nonsense_Mutation_p.696_697MQ>I*|APP_ENST00000359726.3_Nonsense_Mutation_p.696_697MQ>I*|APP_ENST00000448388.2_Nonsense_Mutation_p.642_643MQ>I*	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	752					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCGTTCTGCTGCATCTTGGACA	0.48											OREG0026148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.2256_2257delinsAA	21.37:g.27254037_27254038delinsAA	ENSP00000284981:p.M752_Q753delinsI*	792	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.Q753*|p.M752I	ENST00000346798.3	37	c.2257|c.2256	CCDS13576.1	21																																																																																			APP	-	pfam_APP_amyloid_C,prints_Amyloid_glyco	ENSG00000142192		0.480	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	114|113	0.00	0	G|C	NM_000484		27254037|27254038	27254037|27254038	-1	no_errors	ENST00000346798	ensembl	human	known	69_37n	nonsense|missense	86|88	16.50|16.19	17	SNP	1.000	A
ATP2A1	487	genome.wustl.edu	37	16	28913342	28913342	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr16:28913342C>G	ENST00000357084.3	+	16	2526	c.2259C>G	c.(2257-2259)atC>atG	p.I753M	ATP2A1_ENST00000395503.4_Missense_Mutation_p.I753M|ATP2A1_ENST00000536376.1_Missense_Mutation_p.I628M	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	753					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCCGCGCCATCTACAACAACA	0.607																																						dbGAP											0													161.0	117.0	132.0					16																	28913342		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2259C>G	16.37:g.28913342C>G	ENSP00000349595:p.Ile753Met		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.I753M	ENST00000357084.3	37	c.2259	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594916	0.66219	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.98807	-5.15;-5.15;-5.15	5.23	3.25	0.37280	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	M	0.92077	3.27	0.52501	D	0.999951	D;D;D	0.69078	0.997;0.993;0.996	D;D;D	0.77004	0.986;0.982;0.989	D	0.99360	1.0917	10	0.87932	D	0	.	11.2463	0.48998	0.0:0.8432:0.0:0.1568	.	628;753;753	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	M	753;753;790;628	ENSP00000349595:I753M;ENSP00000378879:I753M;ENSP00000443101:I628M	ENSP00000349595:I753M	I	+	3	3	ATP2A1	28820843	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.273000	0.33121	1.208000	0.43306	0.561000	0.74099	ATC	ATP2A1	-	prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000196296		0.607	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	132	0.00	0	C	NM_004320		28913342	28913342	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	missense	140	27.32	53	SNP	1.000	G
C2CD3	26005	genome.wustl.edu	37	11	73872571	73872571	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr11:73872571G>T	ENST00000334126.7	-	3	582	c.356C>A	c.(355-357)aCc>aAc	p.T119N	C2CD3_ENST00000313663.7_Missense_Mutation_p.T119N|C2CD3_ENST00000539061.1_Missense_Mutation_p.T119N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	119					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATCAAGTTTGGTGATTACTTC	0.353																																						dbGAP											0													136.0	132.0	133.0					11																	73872571		2200	4293	6493	-	-	-	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.356C>A	11.37:g.73872571G>T	ENSP00000334379:p.Thr119Asn		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.T119N	ENST00000334126.7	37	c.356		11	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695773	0.68386	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061;ENST00000535954	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.81	4.84	0.62591	.	0.057369	0.64402	D	0.000002	D	0.86318	0.5904	M	0.65975	2.015	0.41884	D	0.990333	D;D	0.89917	1.0;0.989	D;D	0.79784	0.993;0.91	D	0.87413	0.2377	10	0.72032	D	0.01	-11.2039	15.3155	0.74074	0.0:0.1404:0.8596:0.0	.	119;119	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	N	119;119;119;119;119;161	ENSP00000334379:T119N;ENSP00000323339:T119N;ENSP00000445933:T119N;ENSP00000439343:T161N	ENSP00000289350:T119N	T	-	2	0	C2CD3	73550219	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.282000	0.72639	2.747000	0.94245	0.650000	0.86243	ACC	C2CD3	-	NULL	ENSG00000168014		0.353	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		80	0.00	0	G	NM_015531		73872571	73872571	-1	no_errors	ENST00000334126	ensembl	human	known	69_37n	missense	86	38.13	53	SNP	1.000	T
CACNA1A	773	genome.wustl.edu	37	19	13368334	13368334	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr19:13368334C>T	ENST00000360228.5	-	28	4419	c.4420G>A	c.(4420-4422)Gag>Aag	p.E1474K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1475K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1475					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTGGTTCTCAAAGGTGGCG	0.567																																						dbGAP											0													57.0	53.0	54.0					19																	13368334		1892	4111	6003	-	-	-	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4420G>A	19.37:g.13368334C>T	ENSP00000353362:p.Glu1474Lys		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.E1474K	ENST00000360228.5	37	c.4420	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855073	0.71719	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.96104	-3.91	5.13	5.13	0.70059	Ion transport (1);	0.063270	0.64402	D	0.000009	D	0.97185	0.9080	L	0.61387	1.9	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.992;0.986;0.996	D	0.97924	1.0316	10	0.87932	D	0	.	17.3526	0.87328	0.0:1.0:0.0:0.0	.	1475;1478;1474	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	1474;1478;1475;1475;91	ENSP00000353362:E1474K	ENSP00000317661:E1475K	E	-	1	0	CACNA1A	13229334	1.000000	0.71417	0.994000	0.49952	0.634000	0.38068	7.757000	0.85209	2.387000	0.81309	0.563000	0.77884	GAG	CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.567	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	139	0.00	0	C	NM_000068		13368334	13368334	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	missense	166	16.58	33	SNP	1.000	T
CCDC141	285025	genome.wustl.edu	37	2	179718227	179718227	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr2:179718227G>A	ENST00000420890.2	-	20	3302	c.3185C>T	c.(3184-3186)tCa>tTa	p.S1062L	CCDC141_ENST00000295723.5_Missense_Mutation_p.S487L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1062										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGCGGCACTGAGGGTGCAAT	0.433																																						dbGAP											0													149.0	148.0	148.0					2																	179718227		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3185C>T	2.37:g.179718227G>A	ENSP00000395995:p.Ser1062Leu		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S1062L	ENST00000420890.2	37	c.3185		2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759932	0.31137	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.35605	1.3;1.3;1.3	5.39	4.51	0.55191	.	0.380726	0.19205	N	0.120065	T	0.25827	0.0629	L	0.29908	0.895	0.28225	N	0.926375	B	0.14438	0.01	B	0.16722	0.016	T	0.15607	-1.0431	10	0.19147	T	0.46	-4.3454	11.204	0.48758	0.147:0.0:0.853:0.0	.	487	Q6ZP82	CC141_HUMAN	L	1062;506;487	ENSP00000395995:S1062L;ENSP00000344627:S506L;ENSP00000295723:S487L	ENSP00000295723:S487L	S	-	2	0	CCDC141	179426472	1.000000	0.71417	0.941000	0.38009	0.053000	0.15095	5.313000	0.65798	1.264000	0.44198	0.655000	0.94253	TCA	CCDC141	-	NULL	ENSG00000163492		0.433	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		132	0.00	0	G	NM_173648		179718227	179718227	-1	no_errors	ENST00000420890	ensembl	human	known	69_37n	missense	154	12.99	23	SNP	0.956	A
CDH1	999	genome.wustl.edu	37	16	68856011	68856011	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr16:68856011C>T	ENST00000261769.5	+	12	2010	c.1819C>T	c.(1819-1821)Cca>Tca	p.P607S	CDH1_ENST00000422392.2_Missense_Mutation_p.P546S|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)	607	Cadherin 5. {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)			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)		TGAGAGGAATCCAAAGCCTCA	0.488			"""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	0													123.0	108.0	113.0					16																	68856011		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.1819C>T	16.37:g.68856011C>T	ENSP00000261769:p.Pro607Ser		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.P607S	ENST00000261769.5	37	c.1819	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764934	0.31228	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.59638	0.25;0.25	5.34	4.39	0.52855	Cadherin (2);Cadherin-like (1);	0.290146	0.24967	N	0.034171	T	0.57989	0.2091	L	0.56340	1.77	0.50039	D	0.999848	P;P	0.47677	0.756;0.899	P;P	0.47470	0.531;0.548	T	0.56691	-0.7937	10	0.34782	T	0.22	.	13.142	0.59440	0.0:0.922:0.0:0.078	.	546;607	Q9UII8;P12830	.;CADH1_HUMAN	S	607;625;607;546	ENSP00000261769:P607S;ENSP00000414946:P546S	ENSP00000261769:P607S	P	+	1	0	CDH1	67413512	0.954000	0.32549	0.232000	0.24009	0.404000	0.30871	2.436000	0.44819	2.523000	0.85059	0.536000	0.68110	CCA	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000039068		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	71	0.00	0	C	NM_004360		68856011	68856011	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	0.914	T
CDH23	64072	genome.wustl.edu	37	10	73326553	73326553	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr10:73326553G>A	ENST00000224721.6	+	6	504	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	CDH23_ENST00000398809.4_Missense_Mutation_p.G162R|CDH23_ENST00000299366.7_Missense_Mutation_p.G207R|CDH23_ENST00000398842.3_Missense_Mutation_p.G162R|CDH23_ENST00000461841.3_Missense_Mutation_p.G207R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCCGACTTGGGGGCAGGGGG	0.607																																						dbGAP											0													42.0	46.0	45.0					10																	73326553		2028	4176	6204	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.499G>A	10.37:g.73326553G>A	ENSP00000224721:p.Gly167Arg		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G167R	ENST00000224721.6	37	c.499		10	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507087	0.85282	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.66280	-0.2;-0.2	5.28	5.28	0.74379	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	D	0.85084	0.5616	M	0.93241	3.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;1.0	D	0.89052	0.3456	10	0.87932	D	0	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	162;162;162;162	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	R	167;162;162;162;162;167;167;103	ENSP00000381789:G162R;ENSP00000381822:G162R	ENSP00000224721:G167R	G	+	1	0	CDH23	72996559	1.000000	0.71417	0.998000	0.56505	0.529000	0.34654	9.434000	0.97515	2.484000	0.83849	0.561000	0.74099	GGG	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	35	0.00	0	G	NM_052836		73326553	73326553	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	1.000	A
CEP85L	387119	genome.wustl.edu	37	6	118886718	118886718	+	Silent	SNP	G	G	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr6:118886718G>T	ENST00000368491.3	-	3	1615	c.994C>A	c.(994-996)Cga>Aga	p.R332R	CEP85L_ENST00000360290.3_Silent_p.R230R|CEP85L_ENST00000472713.1_5'Flank|CEP85L_ENST00000368488.5_Silent_p.R335R|CEP85L_ENST00000392500.3_Silent_p.R335R|CEP85L_ENST00000419517.2_Silent_p.R332R	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	332						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTTCCTTGTCGAAAGTCTTCA	0.438																																						dbGAP											0													119.0	118.0	119.0					6																	118886718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.994C>A	6.37:g.118886718G>T			A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	NULL	p.R335	ENST00000368491.3	37	c.1003	CCDS43498.1	6																																																																																			CEP85L	-	NULL	ENSG00000111860		0.438	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	62	0.00	0	G	NM_001042475		118886718	118886718	-1	no_errors	ENST00000368488	ensembl	human	known	69_37n	silent	58	22.67	17	SNP	0.371	T
DDX4	54514	genome.wustl.edu	37	5	55042014	55042014	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr5:55042014G>C	ENST00000505374.1	+	3	184	c.92G>C	c.(91-93)gGa>gCa	p.G31A	DDX4_ENST00000354991.5_Missense_Mutation_p.G31A|DDX4_ENST00000353507.5_Missense_Mutation_p.G31A|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000514278.2_Missense_Mutation_p.G31A	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	31					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GGAGAAAATGGAGACAATTTT	0.333																																						dbGAP											0													84.0	89.0	87.0					5																	55042014		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.92G>C	5.37:g.55042014G>C	ENSP00000424838:p.Gly31Ala		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	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,pfscan_RNA_helicase_DEAD_Q_motif	p.G31A	ENST00000505374.1	37	c.92	CCDS3969.1	5	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833597	0.32421	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T;T	0.62105	1.9;1.81;1.99;3.33;0.05;0.18;1.9;0.27	4.24	3.38	0.38709	.	0.451979	0.19048	N	0.124113	T	0.61702	0.2368	N	0.24115	0.695	0.29568	N	0.850148	P;D;P	0.76494	0.481;0.999;0.598	B;D;B	0.69142	0.321;0.962;0.313	T	0.55373	-0.8151	10	0.25106	T	0.35	.	9.6935	0.40143	0.0:0.0:0.7923:0.2077	.	31;31;31	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	A	31	ENSP00000334167:G31A;ENSP00000425359:G31A;ENSP00000424838:G31A;ENSP00000427167:G31A;ENSP00000424779:G31A;ENSP00000424112:G31A;ENSP00000347087:G31A;ENSP00000427522:G31A	ENSP00000334167:G31A	G	+	2	0	DDX4	55077771	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.599000	0.36751	1.152000	0.42452	-0.217000	0.12591	GGA	DDX4	-	NULL	ENSG00000152670		0.333	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX4	HGNC	protein_coding	OTTHUMT00000214147.2	115	0.00	0	G	NM_024415		55042014	55042014	+1	no_errors	ENST00000505374	ensembl	human	known	69_37n	missense	127	28.65	51	SNP	1.000	C
DMXL2	23312	genome.wustl.edu	37	15	51742471	51742471	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr15:51742471C>T	ENST00000251076.5	-	42	9043	c.8756G>A	c.(8755-8757)gGt>gAt	p.G2919D	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.G2283D|DMXL2_ENST00000543779.2_Missense_Mutation_p.G2920D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2919						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCTTTCCTACCCCCCGAGAT	0.502																																						dbGAP											0													153.0	137.0	143.0					15																	51742471		2196	4293	6489	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8756G>A	15.37:g.51742471C>T	ENSP00000251076:p.Gly2919Asp		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G2920D	ENST00000251076.5	37	c.8759	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634424	0.87660	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.01422	4.91;4.91;4.91	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	M	0.88031	2.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.00394	-1.1767	10	0.87932	D	0	.	19.3542	0.94404	0.0:1.0:0.0:0.0	.	2920;2283;2919;2920	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	D	2919;2920;2283;485	ENSP00000251076:G2919D;ENSP00000441858:G2920D;ENSP00000400855:G2283D	ENSP00000251076:G2919D	G	-	2	0	DMXL2	49529763	1.000000	0.71417	0.752000	0.31206	0.539000	0.34962	7.481000	0.81124	2.554000	0.86153	0.655000	0.94253	GGT	DMXL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000104093		0.502	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	101	0.00	0	C	NM_015263		51742471	51742471	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	116	31.36	53	SNP	1.000	T
DOPEY1	23033	genome.wustl.edu	37	6	83869520	83869520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr6:83869520C>A	ENST00000349129.2	+	37	7063	c.6803C>A	c.(6802-6804)tCa>tAa	p.S2268*	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S2259*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S2152*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2268					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TACAGGACTTCAGGGCCCTCT	0.463																																						dbGAP											0													76.0	77.0	76.0					6																	83869520		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6803C>A	6.37:g.83869520C>A	ENSP00000195654:p.Ser2268*		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.S2268*	ENST00000349129.2	37	c.6803	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	C	48	14.577130	0.99801	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.18	5.18	0.71444	.	0.199365	0.45361	D	0.000365	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0394	0.92992	0.0:1.0:0.0:0.0	.	.	.	.	X	2268;2152;2152	.	ENSP00000237163:S2152X	S	+	2	0	DOPEY1	83926239	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.414000	0.80117	2.576000	0.86940	0.655000	0.94253	TCA	DOPEY1	-	NULL	ENSG00000083097		0.463	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	105	0.00	0	C	NM_015018		83869520	83869520	+1	no_errors	ENST00000349129	ensembl	human	known	69_37n	nonsense	92	19.30	22	SNP	1.000	A
EPPK1	83481	genome.wustl.edu	37	8	144940300	144940300	+	Silent	SNP	G	G	A	rs4977191	byFrequency	TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr8:144940300G>A	ENST00000525985.1	-	2	7193	c.7122C>T	c.(7120-7122)cgC>cgT	p.R2374R				P58107	EPIPL_HUMAN	epiplakin 1	2374						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGCCAGGACGCGGTTCATCT	0.682																																						dbGAP											0													291.0	273.0	279.0					8																	144940300		2195	4271	6466	-	-	-	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7122C>T	8.37:g.144940300G>A			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.R2374	ENST00000525985.1	37	c.7122		8																																																																																			EPPK1	-	pfam_Plectin_repeat	ENSG00000227184		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	44	0.00	0	G	NM_031308		144940300	144940300	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	silent	156	56.30	201	SNP	0.998	A
FANCB	2187	genome.wustl.edu	37	X	14871186	14871186	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chrX:14871186T>A	ENST00000324138.3	-	5	1454	c.1301A>T	c.(1300-1302)gAt>gTt	p.D434V	FANCB_ENST00000398334.1_Missense_Mutation_p.D434V	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	434					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CGTATTATCATCTTTTCCTTG	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													89.0	83.0	85.0					X																	14871186		2203	4296	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1301A>T	X.37:g.14871186T>A	ENSP00000326819:p.Asp434Val		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	NULL	p.D434V	ENST00000324138.3	37	c.1301	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	t	2.836	-0.241639	0.05906	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.72	-1.19	0.09585	.	0.968367	0.08598	N	0.921886	T	0.28499	0.0705	L	0.41236	1.265	0.09310	N	1	B	0.13594	0.008	B	0.17722	0.019	T	0.25257	-1.0137	9	0.30854	T	0.27	-1.0512	3.0031	0.06020	0.1069:0.1292:0.361:0.403	.	434	Q8NB91	FANCB_HUMAN	V	434	.	ENSP00000326819:D434V	D	-	2	0	FANCB	14781107	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	0.373000	0.20484	-0.610000	0.05716	0.438000	0.28831	GAT	FANCB	-	NULL	ENSG00000181544		0.284	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	126	0.00	0	T	NM_152633		14871186	14871186	-1	no_errors	ENST00000324138	ensembl	human	known	69_37n	missense	147	20.97	39	SNP	0.000	A
GALNT8	26290	genome.wustl.edu	37	12	4855388	4855388	+	Silent	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr12:4855388C>T	ENST00000252318.2	+	6	1474	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	379	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTGGAATGCTCATCTATGGAG	0.498																																					Colon(108;631 1558 7270 20097 39846)	dbGAP											0													177.0	163.0	168.0					12																	4855388		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1137C>T	12.37:g.4855388C>T			B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L379	ENST00000252318.2	37	c.1137	CCDS8533.1	12																																																																																			GALNT8	-	NULL	ENSG00000130035		0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	122	0.00	0	C	NM_017417		4855388	4855388	+1	no_errors	ENST00000252318	ensembl	human	known	69_37n	silent	143	30.10	62	SNP	0.926	T
GJB5	2709	genome.wustl.edu	37	1	35223650	35223650	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr1:35223650A>C	ENST00000338513.1	+	2	892	c.719A>C	c.(718-720)cAa>cCa	p.Q240P	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	240					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCCTGCAAACAAGACGACCTC	0.552																																						dbGAP											0													142.0	120.0	127.0					1																	35223650		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.719A>C	1.37:g.35223650A>C	ENSP00000340811:p.Gln240Pro		Q9UPA3	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311	p.Q240P	ENST00000338513.1	37	c.719	CCDS382.1	1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.191957	0.38707	.	.	ENSG00000189280	ENST00000338513	D	0.97831	-4.56	5.56	3.21	0.36854	.	0.863311	0.10274	N	0.694421	D	0.95541	0.8551	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	D	0.88893	0.3347	10	0.39692	T	0.17	.	6.6175	0.22784	0.7659:0.1543:0.0798:0.0	.	240	O95377	CXB5_HUMAN	P	240	ENSP00000340811:Q240P	ENSP00000340811:Q240P	Q	+	2	0	GJB5	34996237	0.017000	0.18338	0.001000	0.08648	0.186000	0.23388	1.901000	0.39838	0.382000	0.24878	0.460000	0.39030	CAA	GJB5	-	prints_Connexin311	ENSG00000189280		0.552	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB5	HGNC	protein_coding	OTTHUMT00000011561.1	93	0.00	0	A	NM_005268		35223650	35223650	+1	no_errors	ENST00000338513	ensembl	human	known	69_37n	missense	80	20.79	21	SNP	0.057	C
HSPD1	3329	genome.wustl.edu	37	2	198363536	198363537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr2:198363536_198363537insT	ENST00000388968.3	-	2	303_304	c.36_37insA	c.(34-39)agaccgfs	p.P13fs	HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000544407.1_Frame_Shift_Ins_p.P13fs|HSPE1_ENST00000409729.1_5'Flank|HSPE1_ENST00000409468.1_5'Flank|HSPD1_ENST00000345042.2_Frame_Shift_Ins_p.P13fs|HSPE1-MOB4_ENST00000604458.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	13					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CTGGACACCGGTCTCATCTGGC	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.37dupA	2.37:g.198363537_198363537dupT	ENSP00000373620:p.Pro13fs		B2R5M6|B7Z712|Q38L19|Q9UCR6	Frame_Shift_Ins	INS	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60	p.P12fs	ENST00000388968.3	37	c.37_36	CCDS33357.1	2																																																																																			HSPD1	-	NULL	ENSG00000144381		0.505	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPD1	HGNC	protein_coding	OTTHUMT00000335324.2	41	0.00	0	-	NM_002156		198363536	198363537	-1	no_errors	ENST00000345042	ensembl	human	known	69_37n	frame_shift_ins	26	25.71	9	INS	1.000:1.000	T
JMJD1C	221037	genome.wustl.edu	37	10	64968401	64968401	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr10:64968401C>T	ENST00000399262.2	-	10	3246	c.3028G>A	c.(3028-3030)Gag>Aag	p.E1010K	JMJD1C_ENST00000399251.1_Missense_Mutation_p.E791K|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E828K|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E791K	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1010					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTCCAGTCTCCTGGGGTGGC	0.398																																						dbGAP											0													180.0	168.0	172.0					10																	64968401		1890	4107	5997	-	-	-	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3028G>A	10.37:g.64968401C>T	ENSP00000382204:p.Glu1010Lys		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E1010K	ENST00000399262.2	37	c.3028	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.845987	0.97016	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.56444	0.81;0.46;2.37;0.81	5.9	5.9	0.94986	.	0.166878	0.51477	D	0.000086	T	0.52821	0.1758	L	0.54323	1.7	0.54753	D	0.999987	B;B;B	0.32245	0.361;0.361;0.361	B;B;B	0.30943	0.076;0.122;0.122	T	0.51679	-0.8675	10	0.51188	T	0.08	-15.5258	20.2821	0.98520	0.0:1.0:0.0:0.0	.	551;1010;828	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	K	1010;791;791;828	ENSP00000382204:E1010K;ENSP00000384990:E791K;ENSP00000382195:E791K;ENSP00000444682:E828K	ENSP00000382195:E791K	E	-	1	0	JMJD1C	64638407	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.905000	0.75714	2.786000	0.95864	0.563000	0.77884	GAG	JMJD1C	-	NULL	ENSG00000171988		0.398	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	139	0.00	0	C	NM_004241		64968401	64968401	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	missense	129	24.12	41	SNP	1.000	T
KCNH1	3756	genome.wustl.edu	37	1	211263988	211263988	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr1:211263988C>T	ENST00000271751.4	-	4	382	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	KCNH1_ENST00000367007.4_Missense_Mutation_p.E119K			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	119	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTATCCTGTTCGTTTCGAATT	0.373																																						dbGAP											0													101.0	99.0	100.0					1																	211263988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.355G>A	1.37:g.211263988C>T	ENSP00000271751:p.Glu119Lys		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.E119K	ENST00000271751.4	37	c.355	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.518055	0.96416	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99698	-6.44;-6.44	5.22	5.22	0.72569	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.80982	2.52	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.58820	0.846;0.846	D	0.98043	1.0383	10	0.87932	D	0	.	17.7921	0.88555	0.0:1.0:0.0:0.0	.	119;119	Q14CL3;O95259	.;KCNH1_HUMAN	K	119	ENSP00000271751:E119K;ENSP00000355974:E119K	ENSP00000271751:E119K	E	-	1	0	KCNH1	209330611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.490000	0.81461	2.442000	0.82660	0.655000	0.94253	GAA	KCNH1	-	pfam_PAS_fold,smart_PAC,prints_K_chnl_volt-dep_EAG,pfscan_PAS-assoc_C,tigrfam_PAS	ENSG00000143473		0.373	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	84	0.00	0	C	NM_002238		211263988	211263988	-1	no_errors	ENST00000271751	ensembl	human	known	69_37n	missense	75	50.33	76	SNP	1.000	T
KCNJ12	3768	genome.wustl.edu	37	17	21319943	21319943	+	Missense_Mutation	SNP	A	A	G	rs5021699	byFrequency	TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr17:21319943A>G	ENST00000583088.1	+	3	2184	c.1289A>G	c.(1288-1290)gAg>gGg	p.E430G	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E430G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	430			E -> G (in dbSNP:rs5021699).		muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TACAGACGGGAGTCAGAGATC	0.701										Prostate(3;0.18)																												dbGAP											0																																										-	-	-	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1289A>G	17.37:g.21319943A>G	ENSP00000463778:p.Glu430Gly		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2	p.E430G	ENST00000583088.1	37	c.1289	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515652	0.64634	.	.	ENSG00000184185	ENST00000331718	D	0.90197	-2.63	5.41	5.41	0.78517	.	0.381500	0.26680	N	0.023059	D	0.94699	0.8290	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94947	0.8096	10	0.59425	D	0.04	.	15.4536	0.75297	1.0:0.0:0.0:0.0	rs5021699	430	Q14500	IRK12_HUMAN	G	430	ENSP00000328150:E430G	ENSP00000328150:E430G	E	+	2	0	KCNJ12	21260536	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.091000	0.94151	2.066000	0.61787	0.528000	0.53228	GAG	KCNJ12	-	NULL	ENSG00000184185		0.701	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	9	0.00	0	A	NM_021012		21319943	21319943	+1	no_errors	ENST00000331718	ensembl	human	known	69_37n	missense	15	42.31	11	SNP	1.000	G
KRT1	3848	genome.wustl.edu	37	12	53074048	53074048	+	Missense_Mutation	SNP	G	G	A	rs201494492		TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr12:53074048G>A	ENST00000252244.3	-	1	143	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	29	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTGGTCCTGCGCTGGTAGTTG	0.557																																						dbGAP											0													73.0	78.0	77.0					12																	53074048		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.85C>T	12.37:g.53074048G>A	ENSP00000252244:p.Arg29Cys		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R29C	ENST00000252244.3	37	c.85	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712107	0.30322	.	.	ENSG00000167768	ENST00000252244	D	0.82344	-1.6	4.13	3.21	0.36854	.	.	.	.	.	D	0.83266	0.5217	M	0.86178	2.8	0.34805	D	0.737104	D	0.63880	0.993	B	0.41135	0.348	D	0.88303	0.2951	9	0.87932	D	0	.	11.7499	0.51843	0.0:0.0:0.6117:0.3883	.	29	P04264	K2C1_HUMAN	C	29	ENSP00000252244:R29C	ENSP00000252244:R29C	R	-	1	0	KRT1	51360315	0.022000	0.18835	0.501000	0.27601	0.895000	0.52256	0.875000	0.28079	0.846000	0.35142	0.491000	0.48974	CGC	KRT1	-	NULL	ENSG00000167768		0.557	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	170	0.00	0	G	NM_006121		53074048	53074048	-1	no_errors	ENST00000252244	ensembl	human	known	69_37n	missense	81	16.49	16	SNP	0.583	A
LMO2	4005	genome.wustl.edu	37	11	33886168	33886168	+	Silent	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr11:33886168G>A	ENST00000395833.3	-	2	666	c.237C>T	c.(235-237)ctC>ctT	p.L79L	LMO2_ENST00000257818.2_Silent_p.L148L	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	79	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CTCTCCGGCAGAGCTTCCGGC	0.652			T	TRD@	T-ALL																																	dbGAP		Dom	yes		11	11p13	4005	LIM domain only 2 (rhombotin-like 1) (RBTN2)		L	0													30.0	31.0	31.0					11																	33886168		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"""T-cell translocation gene 2"", ""rhombotin-like 1"""	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.237C>T	11.37:g.33886168G>A			Q9HD58	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L148	ENST00000395833.3	37	c.444	CCDS44567.1	11																																																																																			LMO2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000135363		0.652	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO2	HGNC	protein_coding	OTTHUMT00000347777.1	20	0.00	0	G	NM_005574		33886168	33886168	-1	no_errors	ENST00000257818	ensembl	human	known	69_37n	silent	30	13.89	5	SNP	0.890	A
MPP5	64398	genome.wustl.edu	37	14	67790494	67790494	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr14:67790494C>G	ENST00000261681.4	+	14	2477	c.1816C>G	c.(1816-1818)Cgg>Ggg	p.R606G	MPP5_ENST00000555925.1_Missense_Mutation_p.R572G|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	606	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAAAGACTTCGGGCATTATT	0.358																																						dbGAP											0													75.0	77.0	76.0					14																	67790494		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1816C>G	14.37:g.67790494C>G	ENSP00000261681:p.Arg606Gly		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.R606G	ENST00000261681.4	37	c.1816	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348833	0.82132	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.42900	0.96;0.96	5.64	5.64	0.86602	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.91561	3.22	0.80722	D	1	D	0.52996	0.957	P	0.54664	0.758	T	0.74061	-0.3786	10	0.87932	D	0	.	14.5439	0.68015	0.1464:0.8536:0.0:0.0	.	606	Q8N3R9	MPP5_HUMAN	G	606;572	ENSP00000261681:R606G;ENSP00000451488:R572G	ENSP00000261681:R606G	R	+	1	2	MPP5	66860247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.670000	0.54569	2.665000	0.90641	0.460000	0.39030	CGG	MPP5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000072415		0.358	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	44	0.00	0	C	NM_022474		67790494	67790494	+1	no_errors	ENST00000261681	ensembl	human	known	69_37n	missense	72	31.43	33	SNP	1.000	G
MTSS1	9788	genome.wustl.edu	37	8	125711807	125711807	+	Silent	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr8:125711807G>A	ENST00000518547.1	-	3	641	c.168C>T	c.(166-168)gaC>gaT	p.D56D	MTSS1_ENST00000378017.3_Silent_p.D56D|MTSS1_ENST00000354184.4_De_novo_Start_OutOfFrame|MTSS1_ENST00000325064.5_Silent_p.D56D	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	56	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTGAAAGGCGTCCAAGAAGG	0.478																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	dbGAP											0													152.0	111.0	125.0					8																	125711807		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.168C>T	8.37:g.125711807G>A			J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD	p.T51M	ENST00000518547.1	37	c.152	CCDS6353.1	8	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280020	0.23392	.	.	ENSG00000170873	ENST00000522162	.	.	.	5.58	-9.7	0.00521	.	.	.	.	.	T	0.62551	0.2437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72626	-0.4236	4	.	.	.	-14.9458	17.4499	0.87589	0.3385:0.0:0.6615:0.0	.	.	.	.	M	51	.	.	T	-	2	0	MTSS1	125780988	0.028000	0.19301	0.663000	0.29738	0.996000	0.88848	-0.774000	0.04684	-2.128000	0.00818	-0.355000	0.07637	ACG	MTSS1	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000170873		0.478	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	71	0.00	0	G	NM_014751		125711807	125711807	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000522162	ensembl	human	putative	69_37n	missense	98	20.33	25	SNP	0.728	A
MYO6	4646	genome.wustl.edu	37	6	76623827	76623827	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr6:76623827G>A	ENST00000369977.3	+	34	3626	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	MYO6_ENST00000369975.1_Missense_Mutation_p.E1131K|MYO6_ENST00000369985.4_Missense_Mutation_p.E1140K|MYO6_ENST00000369981.3_Missense_Mutation_p.E1164K	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1172					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GCGGGAGATTGAAATGAACCG	0.498																																						dbGAP											0													100.0	103.0	102.0					6																	76623827		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3487G>A	6.37:g.76623827G>A	ENSP00000358994:p.Glu1163Lys		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1164K	ENST00000369977.3	37	c.3490	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615512	0.46631	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.88741	-2.39;-2.42;-2.4;-2.42	5.96	5.96	0.96718	.	0.222920	0.46758	D	0.000270	T	0.80670	0.4667	N	0.08118	0	0.51767	D	0.999932	B;P	0.51653	0.152;0.947	B;P	0.58077	0.053;0.832	T	0.78505	-0.2178	10	0.06236	T	0.91	.	20.3928	0.98949	0.0:0.0:1.0:0.0	.	1140;1163	Q9UM54-2;Q9UM54-1	.;.	K	1173;1164;1140;1163;1131	ENSP00000358998:E1164K;ENSP00000359002:E1140K;ENSP00000358994:E1163K;ENSP00000358992:E1131K	ENSP00000358992:E1131K	E	+	1	0	MYO6	76680547	1.000000	0.71417	0.880000	0.34516	0.923000	0.55619	4.582000	0.60957	2.813000	0.96785	0.655000	0.94253	GAA	MYO6	-	NULL	ENSG00000196586		0.498	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	73	0.00	0	G	NM_004999		76623827	76623827	+1	no_errors	ENST00000369981	ensembl	human	known	69_37n	missense	48	45.45	40	SNP	1.000	A
NETO1	81832	genome.wustl.edu	37	18	70417314	70417314	+	Missense_Mutation	SNP	G	G	T	rs144601570	byFrequency	TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr18:70417314G>T	ENST00000327305.6	-	9	2181	c.1524C>A	c.(1522-1524)caC>caA	p.H508Q	NETO1_ENST00000299430.2_Missense_Mutation_p.H507Q|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.H508Q	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	508					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CGGCTTTATCGTGTCTGGACA	0.438																																						dbGAP											0													93.0	81.0	85.0					18																	70417314		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1524C>A	18.37:g.70417314G>T	ENSP00000313088:p.His508Gln		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.H508Q	ENST00000327305.6	37	c.1524	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706860	0.48412	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.21031	2.03;2.03	5.76	2.61	0.31194	.	0.000000	0.64402	D	0.000006	T	0.35128	0.0921	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.989	T	0.02893	-1.1097	10	0.45353	T	0.12	-18.6429	9.3074	0.37883	0.3684:0.0:0.6316:0.0	.	507;508	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	Q	508;507	ENSP00000313088:H508Q;ENSP00000299430:H507Q	ENSP00000299430:H507Q	H	-	3	2	NETO1	68568294	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.022000	0.30052	0.805000	0.34159	-0.384000	0.06662	CAC	NETO1	-	NULL	ENSG00000166342		0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	139	0.00	0	G	NM_138999		70417314	70417314	-1	no_errors	ENST00000327305	ensembl	human	known	69_37n	missense	74	28.16	29	SNP	0.999	T
NFATC3	4775	genome.wustl.edu	37	16	68215432	68215432	+	Splice_Site	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr16:68215432G>A	ENST00000346183.3	+	7	1994	c.1970G>A	c.(1969-1971)gGg>gAg	p.G657E	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Splice_Site_p.G657E|NFATC3_ENST00000329524.4_Splice_Site_p.G657E|NFATC3_ENST00000349223.5_Splice_Site_p.G657E	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	657					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AAATGTCAAGGGGTAAGAAAT	0.313																																						dbGAP											0													70.0	77.0	75.0					16																	68215432		2198	4298	6496	-	-	-	SO:0001630	splice_region_variant	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1971+1G>A	16.37:g.68215432G>A			O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.G657E	ENST00000346183.3	37	c.1970	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443865	0.25987	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.07444	3.19;3.19;3.19	5.46	5.46	0.80206	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.195427	0.56097	D	0.000035	T	0.06917	0.0176	L	0.37897	1.145	0.51767	D	0.999938	B;B;B;B	0.22604	0.061;0.072;0.061;0.061	B;B;B;B	0.27608	0.027;0.081;0.027;0.027	T	0.27400	-1.0075	10	0.09590	T	0.72	-7.3179	8.9221	0.35619	0.0747:0.0:0.7763:0.149	.	657;657;657;657	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	E	657;657;657;178	ENSP00000264008:G657E;ENSP00000300659:G657E;ENSP00000331324:G657E	ENSP00000331324:G657E	G	+	2	0	NFATC3	66772933	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.777000	0.62361	2.726000	0.93360	0.655000	0.94253	GGG	NFATC3	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000072736		0.313	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	49	0.00	0	G	NM_004555	Missense_Mutation	68215432	68215432	+1	no_errors	ENST00000346183	ensembl	human	known	69_37n	missense	70	17.65	15	SNP	1.000	A
NOP14	8602	genome.wustl.edu	37	4	2940561	2940561	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr4:2940561T>A	ENST00000314262.6	-	18	2619	c.2571A>T	c.(2569-2571)aaA>aaT	p.K857N	NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.K857N|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000507120.1_Intron|NOP14-AS1_ENST00000512802.1_RNA|NOP14_ENST00000502735.1_Intron|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000398071.4_Intron	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	857					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ATGTAATTTATTTTTTGAACT	0.438																																						dbGAP											0													96.0	105.0	102.0					4																	2940561		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.2571A>T	4.37:g.2940561T>A	ENSP00000315674:p.Lys857Asn		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.K857N	ENST00000314262.6	37	c.2571	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103303	0.37145	.	.	ENSG00000087269	ENST00000416614;ENST00000314262	T;T	0.33865	1.39;1.39	5.16	-0.0864	0.13681	.	0.314985	0.29900	N	0.010909	T	0.19765	0.0475	L	0.28400	0.85	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.08764	-1.0706	10	0.87932	D	0	.	1.2536	0.01987	0.1835:0.3086:0.1217:0.3861	.	857	P78316	NOP14_HUMAN	N	857	ENSP00000405068:K857N;ENSP00000315674:K857N	ENSP00000315674:K857N	K	-	3	2	NOP14	2910359	0.482000	0.25948	0.047000	0.18901	0.283000	0.27025	-0.472000	0.06623	-0.217000	0.10033	-0.250000	0.11733	AAA	NOP14	-	NULL	ENSG00000087269		0.438	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	161	0.00	0	T	NM_003703		2940561	2940561	-1	no_errors	ENST00000416614	ensembl	human	known	69_37n	missense	105	19.23	25	SNP	0.737	A
NUP155	9631	genome.wustl.edu	37	5	37330153	37330153	+	Silent	SNP	G	G	T	rs575119923		TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr5:37330153G>T	ENST00000231498.3	-	15	1914	c.1711C>A	c.(1711-1713)Cgg>Agg	p.R571R	RNU7-75P_ENST00000516071.1_RNA|NUP155_ENST00000513532.1_Silent_p.R571R|NUP155_ENST00000381843.2_Silent_p.R512R	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	571					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAAAGCCCGAGTAGCCCAG	0.388																																						dbGAP											0													60.0	59.0	60.0					5																	37330153		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1711C>A	5.37:g.37330153G>T			Q9UBE9|Q9UFL5	Silent	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.R571	ENST00000231498.3	37	c.1711	CCDS3921.1	5																																																																																			NUP155	-	NULL	ENSG00000113569		0.388	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	71	0.00	0	G	NM_153485, NM_004298		37330153	37330153	-1	no_errors	ENST00000231498	ensembl	human	known	69_37n	silent	61	32.22	29	SNP	1.000	T
OR1L8	138881	genome.wustl.edu	37	9	125329986	125329986	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr9:125329986G>T	ENST00000304865.2	-	1	852	c.771C>A	c.(769-771)ttC>ttA	p.F257L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AATAGACACAGAAGATGCTTC	0.458																																						dbGAP											0													92.0	81.0	84.0					9																	125329986		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.771C>A	9.37:g.125329986G>T	ENSP00000306607:p.Phe257Leu		A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F257L	ENST00000304865.2	37	c.771	CCDS35124.1	9	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042770	0.19748	.	.	ENSG00000171496	ENST00000304865	T	0.32023	1.47	4.49	0.266	0.15617	GPCR, rhodopsin-like superfamily (1);	0.148906	0.31031	N	0.008382	T	0.10852	0.0265	N	0.04669	-0.19	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.29274	-1.0017	10	0.17369	T	0.5	-25.0794	6.187	0.20503	0.2613:0.1827:0.556:0.0	.	257	Q8NGR8	OR1L8_HUMAN	L	257	ENSP00000306607:F257L	ENSP00000306607:F257L	F	-	3	2	OR1L8	124369807	0.000000	0.05858	0.767000	0.31495	0.479000	0.33129	-2.939000	0.00684	0.270000	0.21984	0.449000	0.29647	TTC	OR1L8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171496		0.458	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L8	HGNC	protein_coding	OTTHUMT00000053939.1	39	0.00	0	G			125329986	125329986	-1	no_errors	ENST00000304865	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	0.000	T
PAK4	10298	genome.wustl.edu	37	19	39660228	39660228	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr19:39660228C>T	ENST00000593690.1	+	4	462	c.35C>T	c.(34-36)tCc>tTc	p.S12F	PAK4_ENST00000360442.3_Missense_Mutation_p.S12F|PAK4_ENST00000599386.1_Missense_Mutation_p.S12F|PAK4_ENST00000599470.1_Missense_Mutation_p.S12F|PAK4_ENST00000321944.4_Missense_Mutation_p.S12F|PAK4_ENST00000358301.3_Missense_Mutation_p.S12F|PAK4_ENST00000435673.2_Missense_Mutation_p.S12F	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	12	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GTGGAGATCTCCGCGCCGTCC	0.657																																						dbGAP											0													57.0	57.0	57.0					19																	39660228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.35C>T	19.37:g.39660228C>T	ENSP00000469413:p.Ser12Phe		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.S12F	ENST00000593690.1	37	c.35	CCDS12528.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490845	0.84962	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000435673;ENST00000360442	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	3.74	3.74	0.42951	PAK-box/P21-Rho-binding (3);	0.079119	0.52532	U	0.000073	D	0.97256	0.9103	M	0.94101	3.495	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.91635	0.999;0.991;0.995	D	0.97967	1.0341	10	0.87932	D	0	.	13.4054	0.60911	0.0:1.0:0.0:0.0	.	12;12;12	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	F	12	ENSP00000351049:S12F;ENSP00000326864:S12F;ENSP00000392753:S12F;ENSP00000353625:S12F	ENSP00000326864:S12F	S	+	2	0	PAK4	44352068	1.000000	0.71417	0.910000	0.35882	0.866000	0.49608	7.511000	0.81718	2.067000	0.61834	0.479000	0.44913	TCC	PAK4	-	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	ENSG00000130669		0.657	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	11	0.00	0	C			39660228	39660228	+1	no_errors	ENST00000358301	ensembl	human	known	69_37n	missense	17	28.00	7	SNP	0.998	T
PLEKHH2	130271	genome.wustl.edu	37	2	43992655	43992655	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr2:43992655C>A	ENST00000282406.4	+	30	4510	c.4400C>A	c.(4399-4401)aCc>aAc	p.T1467N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1467					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCAGCCCAGACCCGGGGACCC	0.537																																						dbGAP											0													62.0	65.0	64.0					2																	43992655		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.4400C>A	2.37:g.43992655C>A	ENSP00000282406:p.Thr1467Asn		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.T1467N	ENST00000282406.4	37	c.4400	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525277	0.27299	.	.	ENSG00000152527	ENST00000282406	T	0.72615	-0.67	5.65	-1.53	0.08611	.	1.271270	0.04871	N	0.445870	T	0.55705	0.1937	L	0.29908	0.895	0.09310	N	1	B	0.21381	0.055	B	0.14023	0.01	T	0.45425	-0.9262	10	0.51188	T	0.08	0.9811	5.1352	0.14932	0.4874:0.2964:0.0:0.2162	.	1467	Q8IVE3	PKHH2_HUMAN	N	1467	ENSP00000282406:T1467N	ENSP00000282406:T1467N	T	+	2	0	PLEKHH2	43846159	0.003000	0.15002	0.000000	0.03702	0.946000	0.59487	1.244000	0.32778	0.011000	0.14865	0.467000	0.42956	ACC	PLEKHH2	-	NULL	ENSG00000152527		0.537	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	79	0.00	0	C	NM_172069		43992655	43992655	+1	no_errors	ENST00000282406	ensembl	human	known	69_37n	missense	63	23.17	19	SNP	0.000	A
PPFIA1	8500	genome.wustl.edu	37	11	70171069	70171069	+	Silent	SNP	G	G	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr11:70171069G>C	ENST00000253925.7	+	4	698	c.483G>C	c.(481-483)ctG>ctC	p.L161L	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.L161L|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	161					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGGAAGTGCTGAAAGCACTGA	0.507																																						dbGAP											0													86.0	86.0	86.0					11																	70171069		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.483G>C	11.37:g.70171069G>C			A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L161	ENST00000253925.7	37	c.483	CCDS31627.1	11																																																																																			PPFIA1	-	NULL	ENSG00000131626		0.507	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	29	0.00	0	G	NM_003626		70171069	70171069	+1	no_errors	ENST00000253925	ensembl	human	known	69_37n	silent	21	27.59	8	SNP	0.917	C
PPP2R1A	5518	genome.wustl.edu	37	19	52705251	52705251	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr19:52705251G>C	ENST00000322088.6	+	2	191	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.L23F|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	45	PP2A subunit B binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCTTGGGGTTGAAAGGACCCG	0.517			Mis		clear cell ovarian carcinoma																																	dbGAP		Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	0													88.0	80.0	83.0					19																	52705251		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.133G>C	19.37:g.52705251G>C	ENSP00000324804:p.Glu45Gln		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E45Q	ENST00000322088.6	37	c.133	CCDS12849.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.047636|4.047636	0.75846|0.75846	.|.	.|.	ENSG00000105568|ENSG00000105568	ENST00000454220;ENST00000423369;ENST00000322088|ENST00000391791;ENST00000444322	T;T|.	0.36157|.	1.27;1.27|.	4.49|4.49	4.49|4.49	0.54785|0.54785	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.210242|.	0.30704|.	N|.	0.009045|.	T|T	0.70789|0.70789	0.3264|0.3264	M|M	0.86953|0.86953	2.85|2.85	0.35098|0.35098	D|D	0.764937|0.764937	P;P|B	0.36753|0.32425	0.568;0.568|0.371	P;P|B	0.46275|0.37304	0.51;0.51|0.246	T|T	0.81865|0.81865	-0.0736|-0.0736	10|8	0.66056|0.87932	D|D	0.02|0	-15.5254|-15.5254	15.07|15.07	0.72026|0.72026	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	45;45|23	A8K7B7;P30153|F5H3X9	.;2AAA_HUMAN|.	Q|F	85;45;45|23	ENSP00000391905:E85Q;ENSP00000324804:E45Q|.	ENSP00000324804:E45Q|ENSP00000375668:L23F	E|L	+|+	1|3	0|2	PPP2R1A|PPP2R1A	57397063|57397063	1.000000|1.000000	0.71417|0.71417	0.881000|0.881000	0.34555|0.34555	0.721000|0.721000	0.41392|0.41392	8.259000|8.259000	0.89855|0.89855	2.492000|2.492000	0.84095|0.84095	0.643000|0.643000	0.83706|0.83706	GAA|TTG	PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000105568		0.517	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	69	0.00	0	G	NM_014225		52705251	52705251	+1	no_errors	ENST00000322088	ensembl	human	known	69_37n	missense	87	19.44	21	SNP	0.998	C
PRICKLE2	166336	genome.wustl.edu	37	3	64142855	64142855	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr3:64142855A>G	ENST00000295902.6	-	5	1168	c.583T>C	c.(583-585)Tgt>Cgt	p.C195R	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.C251R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	195	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CAGGCAGCACAGCGCGGCTTC	0.522																																						dbGAP											0													69.0	65.0	66.0					3																	64142855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.583T>C	3.37:g.64142855A>G	ENSP00000295902:p.Cys195Arg		Q0VF44	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.C195R	ENST00000295902.6	37	c.583	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394293	0.83011	.	.	ENSG00000163637	ENST00000295902	D	0.99319	-5.74	5.82	5.82	0.92795	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	H	0.99783	4.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96647	0.9478	10	0.87932	D	0	-25.8669	16.1848	0.81942	1.0:0.0:0.0:0.0	.	195	Q7Z3G6	PRIC2_HUMAN	R	195	ENSP00000295902:C195R	ENSP00000295902:C195R	C	-	1	0	PRICKLE2	64117895	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	9.287000	0.95975	2.232000	0.73038	0.528000	0.53228	TGT	PRICKLE2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000163637		0.522	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	HGNC	protein_coding	OTTHUMT00000352219.1	35	0.00	0	A	NM_198859		64142855	64142855	-1	no_errors	ENST00000295902	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	G
PSIP1	11168	genome.wustl.edu	37	9	15489983	15489983	+	Splice_Site	SNP	C	C	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr9:15489983C>A	ENST00000380733.4	-	4	632		c.e4+1		PSIP1_ENST00000397519.2_Splice_Site|PSIP1_ENST00000380738.4_Splice_Site|PSIP1_ENST00000380715.1_Splice_Site|PSIP1_ENST00000380716.4_Splice_Site			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ATATGACTTACCTGTTGACTT	0.294																																						dbGAP											0													72.0	68.0	69.0					9																	15489983		2201	4296	6497	-	-	-	SO:0001630	splice_region_variant	0			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.288+1G>T	9.37:g.15489983C>A			D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Splice_Site	SNP	-	e3+1	ENST00000380733.4	37	c.288+1	CCDS6479.1	9	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746863	0.89663	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.301	0.98609	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSIP1	15479983	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.151000	0.77411	2.809000	0.96659	0.555000	0.69702	.	PSIP1	-	-	ENSG00000164985		0.294	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1	134	0.00	0	C	NM_033222	Intron	15489983	15489983	-1	no_errors	ENST00000380733	ensembl	human	known	69_37n	splice_site	158	15.34	29	SNP	1.000	A
PTEN	5728	genome.wustl.edu	37	10	89690810	89690813	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	GAAA	GAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr10:89690810_89690813delGAAA	ENST00000371953.3	+	4	1574_1577	c.217_220delGAAA	c.(217-222)gaaagafs	p.ER73fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	73	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.E73fs*25(1)|p.E73*(1)|p.E73fs*4(1)|p.E73V(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGTTGTGCTGAAAGACATTATGA	0.304		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	61	Whole gene deletion(37)|Deletion - Frameshift(16)|Unknown(6)|Substitution - Nonsense(1)|Substitution - Missense(1)	prostate(16)|central_nervous_system(14)|breast(6)|skin(6)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CD041930|CD075531	PTEN	D																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.217_220delGAAA	10.37:g.89690810_89690813delGAAA	ENSP00000361021:p.Glu73fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E73fs	ENST00000371953.3	37	c.217_220	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.304	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	80	0.00	0	GAAA	NM_000314		89690810	89690813	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	frame_shift_del	41	41.43	29	DEL	1.000:1.000:1.000:1.000	-
RAD51B	5890	genome.wustl.edu	37	14	68353784	68353784	+	Missense_Mutation	SNP	G	G	C	rs28908168	byFrequency	TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr14:68353784G>C	ENST00000487270.1	+	7	667	c.619G>C	c.(619-621)Gtg>Ctg	p.V207L	RAD51B_ENST00000488612.1_Missense_Mutation_p.V207L|RAD51B_ENST00000390683.3_Missense_Mutation_p.V207L|RAD51B_ENST00000471583.1_Missense_Mutation_p.V207L|RAD51B_ENST00000487861.1_Missense_Mutation_p.V207L	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	207			V -> L (in dbSNP:rs28908168).		ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						AATTAAACTTGTGATTCTTGA	0.303								Direct reversal of damage																														dbGAP											0													78.0	84.0	82.0					14																	68353784		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.619G>C	14.37:g.68353784G>C	ENSP00000419471:p.Val207Leu		O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.V207L	ENST00000487270.1	37	c.619	CCDS9789.1	14	.	.	.	.	.	.	.	.	.	.	G	9.162	1.019026	0.19355	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.75	4.78	0.61160	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.210730	0.31113	N	0.008228	T	0.42921	0.1224	N	0.12182	0.205	0.36143	D	0.846903	B;B;B;B;B;B	0.24920	0.114;0.053;0.005;0.058;0.005;0.012	B;B;B;B;B;B	0.30029	0.11;0.039;0.012;0.092;0.015;0.065	T	0.44065	-0.9352	10	0.02654	T	1	-14.9045	9.5654	0.39396	0.0857:0.0:0.759:0.1554	.	207;207;207;207;207;207	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	L	207	ENSP00000419881:V207L;ENSP00000418859:V207L;ENSP00000419471:V207L;ENSP00000420061:V207L;ENSP00000375101:V207L	ENSP00000343531:V207L	V	+	1	0	RAD51B	67423537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.135000	0.42112	2.728000	0.93425	0.650000	0.86243	GTG	RAD51B	-	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	ENSG00000182185		0.303	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	59	0.00	0	G			68353784	68353784	+1	no_errors	ENST00000487270	ensembl	human	known	69_37n	missense	68	26.88	25	SNP	1.000	C
RB1	5925	genome.wustl.edu	37	13	48954373	48954373	+	Silent	SNP	T	T	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr13:48954373T>C	ENST00000267163.4	+	16	1632	c.1494T>C	c.(1492-1494)taT>taC	p.Y498Y		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	498	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.Y498*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGGCCACATATAGCAGTAAGT	0.323		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	24	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(1)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CD942047|CM025389|CM032660	RB1	D|M							45.0	48.0	47.0					13																	48954373		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1494T>C	13.37:g.48954373T>C			A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.Y498	ENST00000267163.4	37	c.1494	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	101	0.00	0	T			48954373	48954373	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	silent	75	29.25	31	SNP	1.000	C
RNF31	55072	genome.wustl.edu	37	14	24619840	24619840	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr14:24619840C>G	ENST00000324103.6	+	8	1551	c.1231C>G	c.(1231-1233)Caa>Gaa	p.Q411E	RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.Q260E|RNF31_ENST00000559275.1_Missense_Mutation_p.Q260E	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	411	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TGCCCAGAGTCAAGTCTGGTA	0.527																																						dbGAP											0													155.0	164.0	161.0					14																	24619840		1985	4164	6149	-	-	-	SO:0001583	missense	0			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1231C>G	14.37:g.24619840C>G	ENSP00000315112:p.Gln411Glu		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.Q411E	ENST00000324103.6	37	c.1231	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.230729	0.01518	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.40756	1.02;1.02	5.87	4.02	0.46733	Zinc finger, RanBP2-type (1);	0.977109	0.08416	N	0.949138	T	0.25680	0.0625	L	0.28115	0.83	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32771	-0.9894	10	0.02654	T	1	1.8218	7.0455	0.25042	0.0:0.6833:0.2207:0.096	.	226;411;260	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	E	411;260	ENSP00000315112:Q411E;ENSP00000372134:Q260E	ENSP00000315112:Q411E	Q	+	1	0	RNF31	23689680	0.317000	0.24589	0.408000	0.26446	0.902000	0.53008	0.708000	0.25719	1.489000	0.48450	0.655000	0.94253	CAA	RNF31	-	smart_Znf_RanBP2	ENSG00000092098		0.527	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3	88	0.00	0	C	NM_017999		24619840	24619840	+1	no_errors	ENST00000324103	ensembl	human	known	69_37n	missense	55	31.25	25	SNP	0.269	G
RPS6KB2	6199	genome.wustl.edu	37	11	67200221	67200221	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr11:67200221G>A	ENST00000312629.5	+	7	574	c.529G>A	c.(529-531)Gag>Aag	p.E177K	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTACCTGGCTGAGATCACGCT	0.607																																						dbGAP											0													127.0	132.0	130.0					11																	67200221		2110	4220	6330	-	-	-	SO:0001583	missense	0			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.529G>A	11.37:g.67200221G>A	ENSP00000308413:p.Glu177Lys		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.E177K	ENST00000312629.5	37	c.529	CCDS41677.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.259330	0.95368	.	.	ENSG00000175634	ENST00000312629	T	0.26518	1.73	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64271	-0.6447	10	0.72032	D	0.01	.	18.8483	0.92217	0.0:0.0:1.0:0.0	.	177;177	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	K	177	ENSP00000308413:E177K	ENSP00000308413:E177K	E	+	1	0	RPS6KB2	66956797	1.000000	0.71417	0.958000	0.39756	0.976000	0.68499	9.299000	0.96137	2.542000	0.85734	0.561000	0.74099	GAG	RPS6KB2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000175634		0.607	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1	128	0.00	0	G	NM_003952		67200221	67200221	+1	no_errors	ENST00000312629	ensembl	human	known	69_37n	missense	111	20.14	28	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	33954810	33954810	+	Silent	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr15:33954810G>A	ENST00000389232.4	+	35	5149	c.5079G>A	c.(5077-5079)acG>acA	p.T1693T	RYR3_ENST00000415757.3_Silent_p.T1693T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1693	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)		GTCTCAGGACGAAGGCTCTGA	0.582																																						dbGAP											0													74.0	78.0	76.0					15																	33954810		2036	4202	6238	-	-	-	SO:0001819	synonymous_variant	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.5079G>A	15.37:g.33954810G>A			O15175|Q15412	Silent	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.T1693	ENST00000389232.4	37	c.5079	CCDS45210.1	15																																																																																			RYR3	-	NULL	ENSG00000198838		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	92	0.00	0	G			33954810	33954810	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	silent	68	33.33	34	SNP	0.223	A
SART1	9092	genome.wustl.edu	37	11	65746121	65746121	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr11:65746121G>T	ENST00000312397.5	+	18	2315	c.2223G>T	c.(2221-2223)atG>atT	p.M741I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	741					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAGGCAAGATGAAGACAGAGC	0.687																																						dbGAP											0													37.0	47.0	44.0					11																	65746121		2193	4285	6478	-	-	-	SO:0001583	missense	0			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.2223G>T	11.37:g.65746121G>T	ENSP00000310448:p.Met741Ile		A6NDN1|Q53GB5	Missense_Mutation	SNP	pfam_SART_1	p.M741I	ENST00000312397.5	37	c.2223	CCDS31611.1	11	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029566	0.75504	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.25085	1.82	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.85373	2.75	0.54753	D	0.999981	D	0.58268	0.982	D	0.67900	0.954	T	0.62515	-0.6838	10	0.87932	D	0	-41.4642	16.2032	0.82103	0.0:0.0:1.0:0.0	.	741	O43290	SNUT1_HUMAN	I	741;583	ENSP00000310448:M741I	ENSP00000310448:M741I	M	+	3	0	SART1	65502697	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.337000	0.79256	2.426000	0.82243	0.491000	0.48974	ATG	SART1	-	pfam_SART_1	ENSG00000175467		0.687	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART1	HGNC	protein_coding	OTTHUMT00000391409.1	30	0.00	0	G			65746121	65746121	+1	no_errors	ENST00000312397	ensembl	human	known	69_37n	missense	92	11.54	12	SNP	1.000	T
SELP	6403	genome.wustl.edu	37	1	169562905	169562905	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr1:169562905G>A	ENST00000263686.6	-	14	2382	c.2345C>T	c.(2344-2346)aCg>aTg	p.T782M	SELP_ENST00000367793.2_Missense_Mutation_p.T720M|SELP_ENST00000367791.2_Missense_Mutation_p.T596M|SELP_ENST00000367788.2_Missense_Mutation_p.T720M|SELP_ENST00000367792.2_Missense_Mutation_p.T598M|SELP_ENST00000458599.2_Missense_Mutation_p.T598M|SELP_ENST00000367786.2_Missense_Mutation_p.T720M|SELP_ENST00000367794.2_Missense_Mutation_p.T720M	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	782					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.T782K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CAGACCTATCGTAGAAGCCAC	0.443																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											72.0	68.0	70.0					1																	169562905		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2345C>T	1.37:g.169562905G>A	ENSP00000263686:p.Thr782Met		Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.T782M	ENST00000263686.6	37	c.2345	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	G	7.456	0.643714	0.14451	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.26810	2.23;2.03;1.74;1.71;1.92;2.03;1.74	5.62	1.16	0.20824	.	1.298690	0.05046	N	0.477292	T	0.12220	0.0297	L	0.50333	1.59	0.09310	N	1	P;P	0.49447	0.924;0.924	P;B	0.45856	0.495;0.256	T	0.16897	-1.0387	10	0.32370	T	0.25	1.149	6.3457	0.21347	0.4648:0.0:0.5352:0.0	.	781;782	Q6NUL9;P16109	.;LYAM3_HUMAN	M	596;782;781;598;782;720;720;598;596;720;720;705	ENSP00000263686:T782M;ENSP00000356767:T720M;ENSP00000356768:T720M;ENSP00000356766:T598M;ENSP00000356765:T596M;ENSP00000356762:T720M;ENSP00000356760:T720M	ENSP00000263686:T782M	T	-	2	0	SELP	167829529	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.425000	0.21346	0.324000	0.23333	-0.143000	0.13931	ACG	SELP	-	NULL	ENSG00000174175		0.443	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	88	0.00	0	G	NM_003005		169562905	169562905	-1	no_errors	ENST00000263686	ensembl	human	known	69_37n	missense	63	52.24	70	SNP	0.000	A
SH3BP5	9467	genome.wustl.edu	37	3	15300446	15300446	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr3:15300446G>A	ENST00000383791.3	-	7	1001	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5_ENST00000426925.1_Missense_Mutation_p.R104W|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.R104W|SH3BP5_ENST00000408919.3_Missense_Mutation_p.R104W	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	261					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CTGGAGCGCCGCCGCTCGTGG	0.602																																						dbGAP											0													80.0	72.0	74.0					3																	15300446		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.781C>T	3.37:g.15300446G>A	ENSP00000373301:p.Arg261Trp		B3KQW6|Q5JWV9	Missense_Mutation	SNP	pfam_SH3-bd_5	p.R261W	ENST00000383791.3	37	c.781	CCDS2625.2	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309149	0.60414	.	.	ENSG00000131370	ENST00000383791;ENST00000426925;ENST00000253688;ENST00000408919;ENST00000366391	.	.	.	5.47	-0.348	0.12613	.	0.050854	0.64402	D	0.000001	T	0.76478	0.3993	M	0.86864	2.845	0.48185	D	0.999608	D	0.89917	1.0	D	0.67231	0.95	T	0.77107	-0.2710	9	0.87932	D	0	-10.6035	9.8739	0.41191	0.0741:0.0:0.3673:0.5587	.	261	O60239	3BP5_HUMAN	W	261;104;104;104;104	.	ENSP00000253688:R104W	R	-	1	2	SH3BP5	15275450	1.000000	0.71417	0.973000	0.42090	0.561000	0.35649	2.487000	0.45268	0.012000	0.14892	-0.422000	0.05995	CGG	SH3BP5	-	pfam_SH3-bd_5	ENSG00000131370		0.602	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5	HGNC	protein_coding	OTTHUMT00000340740.2	60	0.00	0	G	NM_004844		15300446	15300446	-1	no_errors	ENST00000383791	ensembl	human	known	69_37n	missense	60	29.55	26	SNP	0.808	A
SLC16A1	6566	genome.wustl.edu	37	1	113471850	113471850	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr1:113471850G>C	ENST00000538576.1	-	2	912	c.81C>G	c.(79-81)ttC>ttG	p.F27L	SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Missense_Mutation_p.F27L|SLC16A1_ENST00000433570.4_Missense_Mutation_p.F27L	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	27					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CGATGGAAATGAAAGCTCCAA	0.468																																						dbGAP											0													55.0	53.0	54.0					1																	113471850		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.81C>G	1.37:g.113471850G>C	ENSP00000441065:p.Phe27Leu		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.F27L	ENST00000538576.1	37	c.81	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396019	0.83011	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.97	4.08	0.47627	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.82433	2.59	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.81914	0.988;0.995	T	0.60016	-0.7345	10	0.66056	D	0.02	.	8.9267	0.35646	0.2868:0.0:0.7132:0.0	.	27;27	Q49A45;P53985	.;MOT1_HUMAN	L	27	ENSP00000358640:F27L;ENSP00000441065:F27L;ENSP00000416167:F27L;ENSP00000445061:F27L;ENSP00000399104:F27L;ENSP00000397106:F27L	ENSP00000358640:F27L	F	-	3	2	SLC16A1	113273373	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.653000	0.37323	0.838000	0.34948	0.591000	0.81541	TTC	SLC16A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.468	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	28	0.00	0	G	NM_003051		113471850	113471850	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	missense	17	43.33	13	SNP	1.000	C
SLC7A3	84889	genome.wustl.edu	37	X	70149574	70149574	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chrX:70149574G>T	ENST00000374299.3	-	2	418	c.274C>A	c.(274-276)Ccc>Acc	p.P92T	SLC7A3_ENST00000298085.4_Missense_Mutation_p.P92T			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	92					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGAACGGGGAACCCGGGCA	0.537																																						dbGAP											0													96.0	69.0	78.0					X																	70149574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.274C>A	X.37:g.70149574G>T	ENSP00000363417:p.Pro92Thr		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.P92T	ENST00000374299.3	37	c.274	CCDS14404.1	X	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180923	0.78677	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.91843	-2.92;-2.92	4.7	4.7	0.59300	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	H	0.95079	3.62	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	D	0.98435	1.0584	10	0.87932	D	0	.	15.7505	0.77983	0.0:0.0:1.0:0.0	.	92	Q8WY07	CTR3_HUMAN	T	92	ENSP00000363417:P92T;ENSP00000298085:P92T	ENSP00000298085:P92T	P	-	1	0	SLC7A3	70066299	1.000000	0.71417	0.702000	0.30337	0.928000	0.56348	9.475000	0.97721	2.168000	0.68352	0.529000	0.55759	CCC	SLC7A3	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	ENSG00000165349		0.537	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	HGNC	protein_coding	OTTHUMT00000057080.1	73	0.00	0	G	NM_032803		70149574	70149574	-1	no_errors	ENST00000298085	ensembl	human	known	69_37n	missense	62	27.91	24	SNP	1.000	T
SMARCA1	6594	genome.wustl.edu	37	X	128650475	128650475	+	Splice_Site	SNP	C	C	G			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chrX:128650475C>G	ENST00000371122.4	-	3	391		c.e3-1		SMARCA1_ENST00000478420.1_Intron|SMARCA1_ENST00000371123.1_Splice_Site|SMARCA1_ENST00000371121.3_Splice_Site	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGTCGGCTTTCTAATTTGCAA	0.343																																						dbGAP											0													88.0	90.0	89.0					X																	128650475		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.262-1G>C	X.37:g.128650475C>G			Q5JV41|Q5JV42	Splice_Site	SNP	-	e3-1	ENST00000371122.4	37	c.262-1	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204593	0.79127	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8351	0.88693	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCA1	128478156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.143000	0.66587	0.600000	0.82982	.	SMARCA1	-	-	ENSG00000102038		0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	95	0.00	0	C	NM_003069	Intron	128650475	128650475	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	splice_site	70	35.78	39	SNP	1.000	G
SPAG9	9043	genome.wustl.edu	37	17	49067939	49067939	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr17:49067939T>C	ENST00000262013.7	-	20	2697	c.2489A>G	c.(2488-2490)aAc>aGc	p.N830S	SPAG9_ENST00000510283.1_Missense_Mutation_p.N673S|SPAG9_ENST00000357122.4_Missense_Mutation_p.N816S|SPAG9_ENST00000505279.1_Missense_Mutation_p.N820S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	830					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGCTGAGCTGTTGCTTGTCAT	0.478																																						dbGAP											0													160.0	139.0	146.0					17																	49067939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2489A>G	17.37:g.49067939T>C	ENSP00000262013:p.Asn830Ser		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.N830S	ENST00000262013.7	37	c.2489	CCDS45740.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.102|8.102	0.776792|0.776792	0.16120|0.16120	.|.	.|.	ENSG00000008294|ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445|ENST00000513906	T;T;T;T|.	0.21734|.	1.99;2.0;1.99;1.99|.	5.9|5.9	3.69|3.69	0.42338|0.42338	WD40 repeat-like-containing domain (1);|.	0.366032|.	0.35291|.	N|.	0.003306|.	T|T	0.27933|0.27933	0.0688|0.0688	N|N	0.12569|0.12569	0.235|0.235	0.36728|0.36728	D|D	0.881554|0.881554	B;B;B;B;B;B|.	0.09022|.	0.002;0.001;0.0;0.0;0.001;0.0|.	B;B;B;B;B;B|.	0.09377|.	0.003;0.004;0.004;0.002;0.003;0.002|.	T|T	0.16778|0.16778	-1.0391|-1.0391	10|5	0.10377|.	T|.	0.69|.	-17.6133|-17.6133	4.9851|4.9851	0.14185|0.14185	0.0:0.1946:0.152:0.6534|0.0:0.1946:0.152:0.6534	.|.	816;830;820;830;816;673|.	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2|.	.;.;.;JIP4_HUMAN;.;.|.	S|A	830;587;577;367;673;820;816;428|89	ENSP00000262013:N830S;ENSP00000423165:N673S;ENSP00000426900:N820S;ENSP00000349636:N816S|.	ENSP00000262013:N830S|.	N|T	-|-	2|1	0|0	SPAG9|SPAG9	46422938|46422938	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.207000|0.207000	0.17395|0.17395	1.051000|1.051000	0.40369|0.40369	0.528000|0.528000	0.53228|0.53228	AAC|ACA	SPAG9	-	superfamily_WD40_repeat_dom	ENSG00000008294		0.478	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	98	0.00	0	T	NM_003971		49067939	49067939	-1	no_errors	ENST00000262013	ensembl	human	known	69_37n	missense	97	23.02	29	SNP	1.000	C
SYTL3	94120	genome.wustl.edu	37	6	159184541	159184541	+	Splice_Site	SNP	A	A	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr6:159184541A>C	ENST00000297239.9	+	16	1917	c.1723A>C	c.(1723-1725)Aag>Cag	p.K575Q	SYTL3_ENST00000367081.3_Splice_Site_p.K301Q|SYTL3_ENST00000360448.3_Splice_Site_p.K507Q|MIR3918_ENST00000581555.1_RNA			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	575					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ACTTGGTTCAAGTAAGTCTGA	0.483																																						dbGAP											0													70.0	67.0	68.0					6																	159184541		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1723+1A>C	6.37:g.159184541A>C			Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.K575Q	ENST00000297239.9	37	c.1723	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	A	5.578	0.291452	0.10567	.	.	ENSG00000164674	ENST00000360448;ENST00000297239;ENST00000367081	T;T;T	0.07688	3.17;3.17;3.17	4.22	1.77	0.24775	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.801139	0.10632	N	0.652004	T	0.02047	0.0064	L	0.32530	0.975	0.33483	D	0.587713	P;P;P	0.48089	0.859;0.501;0.905	B;B;B	0.43251	0.232;0.08;0.413	T	0.51764	-0.8664	10	0.22109	T	0.4	.	2.4408	0.04494	0.6063:0.1572:0.0851:0.1514	.	301;575;507	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	Q	507;575;301	ENSP00000353631:K507Q;ENSP00000297239:K575Q;ENSP00000356048:K301Q	ENSP00000297239:K575Q	K	+	1	0	SYTL3	159104529	0.609000	0.26975	0.959000	0.39883	0.148000	0.21650	0.840000	0.27600	0.380000	0.24823	0.528000	0.53228	AAG	SYTL3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000164674		0.483	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	32	0.00	0	A		Missense_Mutation	159184541	159184541	+1	no_errors	ENST00000297239	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	0.996	C
TAOK3	51347	genome.wustl.edu	37	12	118610295	118610295	+	Silent	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr12:118610295C>T	ENST00000392533.3	-	17	2356	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	TAOK3_ENST00000537952.1_Silent_p.K162K|TAOK3_ENST00000419821.2_Silent_p.K622K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	622					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCGTGCCGCTTGATCATTA	0.458																																						dbGAP											0													252.0	208.0	223.0					12																	118610295		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1866G>A	12.37:g.118610295C>T			Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K622	ENST00000392533.3	37	c.1866	CCDS9188.1	12																																																																																			TAOK3	-	NULL	ENSG00000135090		0.458	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	244	0.00	0	C	NM_016281		118610295	118610295	-1	no_errors	ENST00000392533	ensembl	human	known	69_37n	silent	161	17.86	35	SNP	1.000	T
THAP5	168451	genome.wustl.edu	37	7	108204886	108204886	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr7:108204886A>G	ENST00000415914.3	-	3	1090	c.937T>C	c.(937-939)Tat>Cat	p.Y313H	THAP5_ENST00000313516.5_Missense_Mutation_p.Y271H|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	313					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TCTGTCCCATAGTCTACATCC	0.343																																						dbGAP											0													126.0	123.0	124.0					7																	108204886		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.937T>C	7.37:g.108204886A>G	ENSP00000400500:p.Tyr313His			Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Y313H	ENST00000415914.3	37	c.937	CCDS47687.1	7	.	.	.	.	.	.	.	.	.	.	A	3.046	-0.196488	0.06259	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96427	-4.01;-2.52	4.45	1.59	0.23543	.	2.771410	0.01929	N	0.041087	D	0.93517	0.7931	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77963	-0.2390	9	.	.	.	.	0.8976	0.01267	0.3408:0.1401:0.117:0.4021	.	313	Q7Z6K1	THAP5_HUMAN	H	313;271	ENSP00000400500:Y313H;ENSP00000322440:Y271H	.	Y	-	1	0	THAP5	107992122	0.965000	0.33210	0.337000	0.25536	0.888000	0.51559	0.558000	0.23469	0.084000	0.17077	0.528000	0.53228	TAT	THAP5	-	NULL	ENSG00000177683		0.343	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP5	HGNC	protein_coding	OTTHUMT00000337777.2	123	0.00	0	A	NM_182529		108204886	108204886	-1	no_errors	ENST00000415914	ensembl	human	known	69_37n	missense	151	26.70	55	SNP	0.009	G
TRAK2	66008	genome.wustl.edu	37	2	202245814	202245814	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr2:202245814T>C	ENST00000332624.3	-	16	2625	c.2197A>G	c.(2197-2199)Aca>Gca	p.T733A		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	733					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CTGAAGGTTGTAGTGGAATCT	0.512																																						dbGAP											0													145.0	143.0	143.0					2																	202245814		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2197A>G	2.37:g.202245814T>C	ENSP00000328875:p.Thr733Ala		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.T733A	ENST00000332624.3	37	c.2197	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029922	0.35797	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.39997	1.05	5.91	0.464	0.16706	Trafficking kinesin-binding protein domain (1);	0.438834	0.22682	N	0.056926	T	0.29223	0.0727	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.17319	-1.0373	10	0.48119	T	0.1	.	5.0783	0.14644	0.122:0.2204:0.0:0.6576	.	733	O60296	TRAK2_HUMAN	A	733;639	ENSP00000328875:T733A	ENSP00000328875:T733A	T	-	1	0	TRAK2	201954059	0.035000	0.19736	0.301000	0.25044	0.973000	0.67179	1.901000	0.39838	0.123000	0.18342	0.533000	0.62120	ACA	TRAK2	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000115993		0.512	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	115	0.00	0	T	NM_015049		202245814	202245814	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	missense	103	14.17	17	SNP	0.000	C
TTC14	151613	genome.wustl.edu	37	3	180328183	180328183	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr3:180328183C>G	ENST00000296015.4	+	12	2298	c.2166C>G	c.(2164-2166)atC>atG	p.I722M	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	722							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGGAGGATATCAAAACAGAGG	0.353																																						dbGAP											0													74.0	77.0	76.0					3																	180328183		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2166C>G	3.37:g.180328183C>G	ENSP00000296015:p.Ile722Met		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	pfam_TPR-1,superfamily_NA-bd_OB-fold-like,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.I722M	ENST00000296015.4	37	c.2166	CCDS3237.1	3	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367662	0.42003	.	.	ENSG00000163728	ENST00000296015	T	0.19250	2.16	5.45	-0.559	0.11792	.	0.660759	0.15122	N	0.279330	T	0.18341	0.0440	N	0.19112	0.55	0.27255	N	0.958795	D	0.61697	0.99	P	0.52909	0.713	T	0.15321	-1.0441	10	0.51188	T	0.08	0.2308	8.4409	0.32814	0.1225:0.1105:0.0:0.767	.	722	Q96N46	TTC14_HUMAN	M	722	ENSP00000296015:I722M	ENSP00000296015:I722M	I	+	3	3	TTC14	181810877	0.016000	0.18221	0.029000	0.17559	0.920000	0.55202	0.046000	0.14035	-0.161000	0.10983	0.655000	0.94253	ATC	TTC14	-	NULL	ENSG00000163728		0.353	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC14	HGNC	protein_coding	OTTHUMT00000349786.1	32	0.00	0	C	NM_133462		180328183	180328183	+1	no_errors	ENST00000296015	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	0.007	G
TTN	7273	genome.wustl.edu	37	2	179605501	179605501	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr2:179605501C>G	ENST00000591111.1	-	46	11732	c.11508G>C	c.(11506-11508)caG>caC	p.Q3836H	TTN_ENST00000460472.2_Missense_Mutation_p.Q3790H|TTN_ENST00000589042.1_Missense_Mutation_p.Q4153H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q3982H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.Q3915H			Q8WZ42	TITIN_HUMAN	titin	0					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)			ACTGTACAATCTGCAGCTGTA	0.453																																						dbGAP											0													131.0	128.0	129.0					2																	179605501		1907	4125	6032	-	-	-	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.11508G>C	2.37:g.179605501C>G	ENSP00000465570:p.Gln3836His		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_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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.Q3982H	ENST00000591111.1	37	c.11946		2	.	.	.	.	.	.	.	.	.	.	C	0.437	-0.900543	0.02472	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.65178	-0.07;-0.14;-0.14	5.64	0.164	0.14990	.	.	.	.	.	T	0.45337	0.1337	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.10450	0.005;0.005;0.005	T	0.39981	-0.9587	9	0.87932	D	0	.	4.8092	0.13335	0.108:0.5885:0.1053:0.1982	.	3790;3915;3982	D3DPF9;E7EQE6;E7ET18	.;.;.	H	3790;3982;3915;3790	ENSP00000434586:Q3790H;ENSP00000340554:Q3982H;ENSP00000352154:Q3915H	ENSP00000340554:Q3982H	Q	-	3	2	TTN	179313746	0.016000	0.18221	0.007000	0.13788	0.004000	0.04260	0.170000	0.16663	0.070000	0.16634	-0.745000	0.03516	CAG	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	76	0.00	0	C	NM_133378		179605501	179605501	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	missense	85	16.67	17	SNP	0.141	G
UROC1	131669	genome.wustl.edu	37	3	126222869	126222869	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr3:126222869C>T	ENST00000290868.2	-	9	924	c.871G>A	c.(871-873)Gac>Aac	p.D291N	UROC1_ENST00000383579.3_Missense_Mutation_p.D291N	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	291					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCCAAGCTGTCAGTCACTTCC	0.612																																						dbGAP											0													128.0	103.0	112.0					3																	126222869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.871G>A	3.37:g.126222869C>T	ENSP00000290868:p.Asp291Asn		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.D291N	ENST00000290868.2	37	c.871	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838511	0.51057	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.44881	0.91;0.91	5.34	5.34	0.76211	Urocanase domain (2);	0.094485	0.64402	D	0.000001	T	0.28034	0.0691	N	0.25144	0.715	0.35176	D	0.772007	B;B	0.15141	0.012;0.001	B;B	0.15052	0.011;0.012	T	0.28332	-1.0047	10	0.31617	T	0.26	-19.8924	10.0475	0.42195	0.0:0.9082:0.0:0.0918	.	291;291	E9PE13;Q96N76	.;HUTU_HUMAN	N	291	ENSP00000290868:D291N;ENSP00000373073:D291N	ENSP00000290868:D291N	D	-	1	0	UROC1	127705559	0.984000	0.35163	0.984000	0.44739	0.986000	0.74619	2.277000	0.43417	2.501000	0.84356	0.491000	0.48974	GAC	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	ENSG00000159650		0.612	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	80	0.00	0	C	NM_144639		126222869	126222869	-1	no_errors	ENST00000290868	ensembl	human	known	69_37n	missense	65	33.67	33	SNP	0.998	T
WDR87	83889	genome.wustl.edu	37	19	38382389	38382389	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr19:38382389G>C	ENST00000303868.5	-	5	3304	c.3080C>G	c.(3079-3081)tCc>tGc	p.S1027C	WDR87_ENST00000447313.2_Missense_Mutation_p.S1066C	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1027										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CACTTGAGTGGAAAGGATTTG	0.468																																						dbGAP											0													88.0	79.0	82.0					19																	38382389		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3080C>G	19.37:g.38382389G>C	ENSP00000368025:p.Ser1027Cys		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1066C	ENST00000303868.5	37	c.3197	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	G	0.847	-0.739943	0.03088	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.10477	2.87;2.87	4.74	-1.6	0.08426	.	1.721710	0.03183	N	0.172280	T	0.08133	0.0203	N	0.22421	0.69	0.09310	N	1	B;B	0.32365	0.367;0.367	B;B	0.34824	0.19;0.19	T	0.33574	-0.9863	10	0.38643	T	0.18	-0.0406	4.7366	0.12991	0.4684:0.0:0.28:0.2516	.	1027;1066	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	C	1066;1027	ENSP00000405012:S1066C;ENSP00000368025:S1027C	ENSP00000368025:S1027C	S	-	2	0	WDR87	43074229	0.000000	0.05858	0.207000	0.23584	0.084000	0.17831	-0.025000	0.12413	0.057000	0.16193	-0.780000	0.03373	TCC	WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.468	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	80	0.00	0	G	XM_940478		38382389	38382389	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	61	34.41	32	SNP	0.003	C
YME1L1	10730	genome.wustl.edu	37	10	27437888	27437888	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr10:27437888A>G	ENST00000326799.3	-	2	263	c.115T>C	c.(115-117)Tct>Cct	p.S39P	YME1L1_ENST00000477432.1_Missense_Mutation_p.S39P|YME1L1_ENST00000376016.3_Missense_Mutation_p.S39P|YME1L1_ENST00000375972.3_Missense_Mutation_p.S39P	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	39					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGTTTTGAGAAACTGACACT	0.413																																						dbGAP											0													209.0	208.0	208.0					10																	27437888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.115T>C	10.37:g.27437888A>G	ENSP00000318480:p.Ser39Pro		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH	p.S39P	ENST00000326799.3	37	c.115	CCDS7152.1	10	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066140	0.36470	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.93763	-3.17;-3.28;-3.19	5.49	2.84	0.33178	Peptidase M41, FtsH (1);	0.937036	0.09257	N	0.827114	D	0.84790	0.5550	N	0.19112	0.55	0.09310	N	1	B;B;P;B	0.37864	0.337;0.013;0.61;0.393	B;B;B;B	0.35353	0.133;0.007;0.201;0.093	T	0.76937	-0.2774	10	0.56958	D	0.05	-5.9068	1.0429	0.01563	0.3907:0.2358:0.0912:0.2823	.	39;39;39;39	B4DNM1;Q6PJ89;Q96TA2-2;Q96TA2	.;.;.;YMEL1_HUMAN	P	39;39;39;39;39;31	ENSP00000365184:S39P;ENSP00000318480:S39P;ENSP00000365139:S39P	ENSP00000318480:S39P	S	-	1	0	YME1L1	27477894	0.093000	0.21703	0.355000	0.25773	0.830000	0.47004	0.286000	0.18902	0.397000	0.25310	0.533000	0.62120	TCT	YME1L1	-	NULL	ENSG00000136758		0.413	YME1L1-005	KNOWN	basic|CCDS	protein_coding	YME1L1	HGNC	protein_coding	OTTHUMT00000047306.1	79	0.00	0	A	NM_139312		27437888	27437888	-1	no_errors	ENST00000326799	ensembl	human	known	69_37n	missense	106	28.86	43	SNP	0.062	G
ZDHHC19	131540	genome.wustl.edu	37	3	195925458	195925458	+	Intron	SNP	A	A	C	rs1106480	byFrequency	TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr3:195925458A>C	ENST00000296326.3	-	7	853					NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AGGATGCAGCAGCCCTGTATG	0.647													A|||	1148	0.229233	0.0439	0.2118	5008	,	,		18654	0.5169		0.1421	False		,,,				2504	0.2853					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.774-136T>G	3.37:g.195925458A>C			A8MSY6|B3KVI1	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.A259	ENST00000296326.3	37	c.777	CCDS43190.1	3																																																																																			ZDHHC19	-	NULL	ENSG00000163958		0.647	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	8	0.00	0	A	NM_144637		195925458	195925458	-1	no_errors	ENST00000397544	ensembl	human	known	69_37n	silent	12	50.00	12	SNP	0.000	C
ZNF578	147660	genome.wustl.edu	37	19	53014257	53014257	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr19:53014257A>T	ENST00000421239.2	+	6	867	c.623A>T	c.(622-624)tAt>tTt	p.Y208F	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCTAATAACTATGGGAATAAT	0.353																																						dbGAP											0													65.0	69.0	68.0					19																	53014257		2200	4297	6497	-	-	-	SO:0001583	missense	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.623A>T	19.37:g.53014257A>T	ENSP00000459216:p.Tyr208Phe		B4DR51|I3L1Y6	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.Y208F	ENST00000421239.2	37	c.623	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	14.06	2.423520	0.43020	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	-0.755	0.11061	.	.	.	.	.	T	0.50171	0.1600	L	0.52126	1.63	0.09310	N	0.999999	D	0.67145	0.996	D	0.70935	0.971	T	0.37337	-0.9710	7	.	.	.	.	5.8865	0.18884	0.2945:0.0:0.7055:0.0	.	208	G3V4F6	.	F	208	.	.	Y	+	2	0	ZNF578	57706069	0.521000	0.26258	0.001000	0.08648	0.269000	0.26545	0.049000	0.14099	-0.130000	0.11599	0.113000	0.15668	TAT	ZNF578	-	NULL	ENSG00000258405		0.353	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	78	0.00	0	A	NM_152472		53014257	53014257	+1	no_errors	ENST00000421239	ensembl	human	known	69_37n	missense	91	23.97	29	SNP	0.493	T
ZNF619	285267	genome.wustl.edu	37	3	40528668	40528668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A1IH-01A-11D-A188-09	TCGA-E2-A1IH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cd886e35-4201-4732-90c6-142d8fe309b1	cb1773b7-2caf-4e7f-8dd8-ef6b62fbca62	g.chr3:40528668C>T	ENST00000314686.5	+	6	1024	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	ZNF619_ENST00000432264.2_Nonsense_Mutation_p.Q223*|ZNF619_ENST00000429348.2_Nonsense_Mutation_p.Q223*|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.Q214*|ZNF619_ENST00000456778.1_Nonsense_Mutation_p.Q179*|ZNF619_ENST00000447116.2_Nonsense_Mutation_p.Q263*|ZNF619_ENST00000521353.1_Nonsense_Mutation_p.Q263*|ZNF619_ENST00000520737.1_3'UTR			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCACCTGCATCAGAGAGTTCA	0.418																																						dbGAP											0													66.0	64.0	65.0					3																	40528668		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.619C>T	3.37:g.40528668C>T	ENSP00000322529:p.Gln207*		B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_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.Q263*	ENST00000314686.5	37	c.787		3	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336652	0.60963	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.55	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	4.8411	0.13491	0.2465:0.5118:0.2417:0.0	.	.	.	.	X	207;263;223;179;214;263;223	.	ENSP00000322529:Q207X	Q	+	1	0	ZNF619	40503672	0.024000	0.19004	0.681000	0.30009	0.206000	0.24218	0.506000	0.22658	0.369000	0.24510	0.563000	0.77884	CAG	ZNF619	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177873		0.418	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	34	0.00	0	C	NM_173656		40528668	40528668	+1	no_errors	ENST00000447116	ensembl	human	known	69_37n	nonsense	25	40.48	17	SNP	0.978	T
