#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
APOBEC3A	200315	genome.wustl.edu	37	22	39357438	39357438	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr22:39357438G>A	ENST00000402255.1	+	4	425	c.221G>A	c.(220-222)cGc>cAc	p.R74H	APOBEC3A_ENST00000249116.2_Missense_Mutation_p.R74H			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	74	CMP/dCMP deaminase zinc-binding.				cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					GCGGAGCTGCGCTTCTTGGAC	0.572																																						dbGAP											0													11.0	15.0	14.0					22																	39357438		2035	3948	5983	-	-	-	SO:0001583	missense	0			U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"""Apolipoprotein B mRNA editing enzymes"""	17343	protein-coding gene	gene with protein product	"""phorbolin I"""	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.221G>A	22.37:g.39357438G>A	ENSP00000384359:p.Arg74His		A0AVM1|Q12807|Q5JZ93|Q9UH18	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R74H	ENST00000402255.1	37	c.221	CCDS13981.1	22	.	.	.	.	.	.	.	.	.	.	.	9.980	1.227869	0.22542	.	.	ENSG00000128383	ENST00000402255;ENST00000249116	T;T	0.65732	-0.17;-0.17	2.5	0.225	0.15325	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.57286	0.2043	M	0.73598	2.24	0.09310	N	1	P;P	0.35272	0.466;0.493	B;B	0.36989	0.157;0.238	T	0.54357	-0.8306	9	0.62326	D	0.03	.	3.0973	0.06314	0.1525:0.0:0.3888:0.4587	.	56;74	B7ZLZ1;P31941	.;ABC3A_HUMAN	H	74	ENSP00000384359:R74H;ENSP00000249116:R74H	ENSP00000249116:R74H	R	+	2	0	APOBEC3A	37687384	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.126000	0.15769	0.107000	0.17824	0.585000	0.79938	CGC	APOBEC3A	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like	ENSG00000128383		0.572	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3A	HGNC	protein_coding	OTTHUMT00000320915.2	76	0.00	0	G	NM_145699		39357438	39357438	+1	no_errors	ENST00000249116	ensembl	human	known	69_37n	missense	56	27.85	22	SNP	0.001	A
BAX	581	genome.wustl.edu	37	19	49458970	49458971	+	Frame_Shift_Ins	INS	-	-	G	rs141306106|rs398122842|rs398122841|rs398122840		TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr19:49458970_49458971insG	ENST00000345358.7	+	3	165_166	c.113_114insG	c.(112-117)atggggfs	p.MG38fs	BAX_ENST00000415969.2_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000391871.3_Frame_Shift_Ins_p.W21fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000293288.8_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000539787.1_Frame_Shift_Ins_p.MG38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)							,,,	38,4226		0,38,2094					,,,	4.0	0.3			58	42,8212		0,42,4085	no	frameshift,intron,frameshift,frameshift	BAX	NM_138764.4,NM_138763.3,NM_138761.3,NM_004324.3	,,,	0,80,6179	A1A1,A1R,RR		0.5088,0.8912,0.6391	,,,	,,,		80,12438				-	-	-	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.121dupG	19.37:g.49458978_49458978dupG	ENSP00000263262:p.Met38fs		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Ins	INS	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.E41fs	ENST00000345358.7	37	c.113_114	CCDS12742.1	19																																																																																			BAX	-	NULL	ENSG00000087088		0.594	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	36	0.00	0	-	NM_138763		49458970	49458971	+1	no_errors	ENST00000293288	ensembl	human	known	69_37n	frame_shift_ins	6	25.00	2	INS	0.585:0.588	G
C18orf21	83608	genome.wustl.edu	37	18	33552802	33552802	+	Intron	DEL	G	G	-			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr18:33552802delG	ENST00000592875.1	+	1	723				C18orf21_ENST00000333234.5_5'UTR|C18orf21_ENST00000593210.1_3'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21											endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GGAGGCGAGCGGGTAGGTGTT	0.597																																						dbGAP											0													184.0	163.0	170.0					18																	33552802		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.77+34G>-	18.37:g.33552802delG			Q6GW03|Q9BXV6|Q9BXW2	RNA	DEL	-	NULL	ENST00000592875.1	37	NULL	CCDS11916.2	18																																																																																			C18orf21	-	-	ENSG00000141428		0.597	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf21	HGNC	protein_coding	OTTHUMT00000250364.1	57	0.00	0	G	NM_031446		33552802	33552802	+1	no_errors	ENST00000593210	ensembl	human	known	69_37n	rna	16	11.11	2	DEL	0.055	-
C1orf101	257044	genome.wustl.edu	37	1	244735733	244735733	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr1:244735733A>T	ENST00000366534.4	+	11	1663	c.1609A>T	c.(1609-1611)Aca>Tca	p.T537S	C1orf101_ENST00000366531.3_Missense_Mutation_p.T386S|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.T537S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	537						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GACAAATTACACAACAAGAGC	0.303																																						dbGAP											0													99.0	91.0	94.0					1																	244735733		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1609A>T	1.37:g.244735733A>T	ENSP00000355492:p.Thr537Ser		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.T537S	ENST00000366534.4	37	c.1609	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	A	6.123	0.390860	0.11581	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.66	1.0	0.19881	.	0.854771	0.10206	N	0.702742	T	0.15869	0.0382	L	0.48642	1.525	0.09310	N	1	P;B;P;B	0.40180	0.705;0.137;0.465;0.419	B;B;B;B	0.41510	0.359;0.085;0.124;0.168	T	0.17228	-1.0376	10	0.15499	T	0.54	.	1.7412	0.02952	0.5662:0.1734:0.0939:0.1665	.	457;537;537;386	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	S	537;537;537;457;386	ENSP00000355492:T537S;ENSP00000355491:T537S;ENSP00000395796:T457S;ENSP00000355489:T386S	ENSP00000355489:T386S	T	+	1	0	C1orf101	242802356	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.013000	0.12678	0.060000	0.16281	-0.280000	0.10049	ACA	C1orf101	-	NULL	ENSG00000179397		0.303	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	134	0.00	0	A	NM_173807		244735733	244735733	+1	no_errors	ENST00000366534	ensembl	human	known	69_37n	missense	192	25.29	65	SNP	0.000	T
C7orf31	136895	genome.wustl.edu	37	7	25176162	25176162	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr7:25176162T>C	ENST00000409280.1	-	10	1510	c.1202A>G	c.(1201-1203)gAa>gGa	p.E401G	C7orf31_ENST00000283905.3_Missense_Mutation_p.E401G			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	401										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GCTCTGTTCTTCTATGATCTT	0.393																																						dbGAP											0													247.0	232.0	237.0					7																	25176162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1202A>G	7.37:g.25176162T>C	ENSP00000386604:p.Glu401Gly		A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	NULL	p.E401G	ENST00000409280.1	37	c.1202	CCDS5394.1	7	.	.	.	.	.	.	.	.	.	.	T	9.581	1.123469	0.20959	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.07444	3.19;3.19	5.45	5.45	0.79879	.	0.478501	0.22784	N	0.055685	T	0.12987	0.0315	L	0.59436	1.845	0.21325	N	0.999724	B	0.30281	0.275	B	0.38954	0.286	T	0.15607	-1.0431	10	0.51188	T	0.08	-6.7359	8.9035	0.35510	0.1661:0.0:0.0:0.8339	.	401	Q8N865	CG031_HUMAN	G	401	ENSP00000386604:E401G;ENSP00000283905:E401G	ENSP00000283905:E401G	E	-	2	0	C7orf31	25142687	0.953000	0.32496	1.000000	0.80357	0.048000	0.14542	1.787000	0.38704	2.075000	0.62263	0.533000	0.62120	GAA	C7orf31	-	NULL	ENSG00000153790		0.393	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	HGNC	protein_coding	OTTHUMT00000326929.1	268	0.37	1	T	NM_138811		25176162	25176162	-1	no_errors	ENST00000283905	ensembl	human	known	69_37n	missense	343	33.59	174	SNP	0.392	C
CENPE	1062	genome.wustl.edu	37	4	104062041	104062041	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr4:104062041C>A	ENST00000265148.3	-	36	5773	c.5684G>T	c.(5683-5685)aGa>aTa	p.R1895I	CENPE_ENST00000380026.3_Missense_Mutation_p.R1870I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1895					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTCTACTCTTCTTAGATTATC	0.363																																						dbGAP											0													135.0	123.0	127.0					4																	104062041		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5684G>T	4.37:g.104062041C>A	ENSP00000265148:p.Arg1895Ile		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R1895I	ENST00000265148.3	37	c.5684	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013985	0.54468	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70749	-0.51;-0.51	4.96	-2.22	0.06952	.	.	.	.	.	T	0.74989	0.3789	M	0.63843	1.955	0.09310	N	1	D;P	0.64830	0.994;0.712	P;B	0.59703	0.862;0.265	T	0.66031	-0.6024	9	0.72032	D	0.01	.	7.9461	0.29987	0.0:0.1616:0.1379:0.7006	.	1870;1895	Q02224-3;Q02224	.;CENPE_HUMAN	I	1895;1895;1870	ENSP00000265148:R1895I;ENSP00000369365:R1870I	ENSP00000265148:R1895I	R	-	2	0	CENPE	104281490	0.001000	0.12720	0.003000	0.11579	0.831000	0.47069	0.196000	0.17176	-0.118000	0.11851	0.637000	0.83480	AGA	CENPE	-	NULL	ENSG00000138778		0.363	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		168	0.00	0	C			104062041	104062041	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	141	32.38	68	SNP	0.002	A
DCAF12L2	340578	genome.wustl.edu	37	X	125298649	125298649	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chrX:125298649T>A	ENST00000360028.2	-	1	1285	c.1259A>T	c.(1258-1260)tAc>tTc	p.Y420F	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.Y420F			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	420										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCACCAAAGTAGTTCACCCA	0.617																																						dbGAP											0													115.0	116.0	116.0					X																	125298649		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1259A>T	X.37:g.125298649T>A	ENSP00000353128:p.Tyr420Phe		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y420F	ENST00000360028.2	37	c.1259	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207420	0.39003	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18502	2.21;2.21	3.88	3.88	0.44766	.	0.257195	0.20727	N	0.086797	T	0.15522	0.0374	L	0.57536	1.79	0.36401	D	0.863146	P	0.40250	0.709	B	0.37943	0.261	T	0.11251	-1.0595	10	0.12766	T	0.61	.	10.1101	0.42557	0.0:0.0:0.0:1.0	.	420	Q5VW00	DC122_HUMAN	F	420	ENSP00000441489:Y420F;ENSP00000353128:Y420F	ENSP00000353128:Y420F	Y	-	2	0	DCAF12L2	125126330	1.000000	0.71417	0.995000	0.50966	0.882000	0.50991	6.867000	0.75511	1.746000	0.51805	0.486000	0.48141	TAC	DCAF12L2	-	NULL	ENSG00000198354		0.617	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	114	0.00	0	T	NM_001013628		125298649	125298649	-1	no_errors	ENST00000360028	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	A
DLG1	1739	genome.wustl.edu	37	3	196867092	196867092	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr3:196867092T>G	ENST00000419354.1	-	9	1017	c.731A>C	c.(730-732)aAc>aCc	p.N244T	DLG1_ENST00000448528.2_Missense_Mutation_p.N244T|DLG1_ENST00000357674.4_Missense_Mutation_p.N211T|DLG1_ENST00000443183.1_Missense_Mutation_p.N128T|DLG1_ENST00000346964.2_Missense_Mutation_p.N244T|DLG1_ENST00000452595.1_Missense_Mutation_p.N128T|DLG1_ENST00000314062.3_Missense_Mutation_p.N193T|DLG1_ENST00000450955.1_Missense_Mutation_p.N211T|DLG1_ENST00000392382.2_Missense_Mutation_p.N211T|DLG1_ENST00000422288.1_Missense_Mutation_p.N193T			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	244	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		AATGTGTGGGTTGTCCGTACC	0.413																																						dbGAP											0													152.0	147.0	148.0					3																	196867092		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.731A>C	3.37:g.196867092T>G	ENSP00000407531:p.Asn244Thr		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.N244T	ENST00000419354.1	37	c.731	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530759	0.85706	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466;ENST00000453607	T;T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.67	5.67	0.87782	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	L	0.36672	1.1	0.80722	D	1	P;P;D;D;D;P;D	0.76494	0.677;0.663;0.999;0.999;0.999;0.808;0.999	P;P;D;D;D;P;D	0.91635	0.564;0.584;0.999;0.999;0.998;0.748;0.998	T	0.40001	-0.9586	10	0.54805	T	0.06	.	15.379	0.74637	0.0:0.0:0.0:1.0	.	211;128;128;128;211;244;244	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	T	244;244;211;244;193;244;128;193;244;128;211;211;53;97	ENSP00000345731:N244T;ENSP00000350303:N211T;ENSP00000321087:N193T;ENSP00000407531:N244T;ENSP00000398939:N128T;ENSP00000413238:N193T;ENSP00000391732:N244T;ENSP00000396658:N128T;ENSP00000376187:N211T;ENSP00000411278:N211T;ENSP00000398702:N53T;ENSP00000412579:N97T	ENSP00000321087:N193T	N	-	2	0	DLG1	198351489	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.277000	0.76020	0.482000	0.46254	AAC	DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.413	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	356	0.00	0	T	NM_004087		196867092	196867092	-1	no_errors	ENST00000346964	ensembl	human	known	69_37n	missense	371	35.74	208	SNP	1.000	G
DNAH9	1770	genome.wustl.edu	37	17	11865565	11865565	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr17:11865565G>A	ENST00000262442.4	+	68	13293	c.13225G>A	c.(13225-13227)Gac>Aac	p.D4409N	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4333N|DNAH9_ENST00000608377.1_Missense_Mutation_p.D721N|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4409					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCTGCTGGGACACACAGGT	0.478																																						dbGAP											0													56.0	59.0	58.0					17																	11865565		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13225G>A	17.37:g.11865565G>A	ENSP00000262442:p.Asp4409Asn		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D4409N	ENST00000262442.4	37	c.13225	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834762	0.91036	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.12361	2.69;2.69;2.69	5.04	5.04	0.67666	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52968	-0.8504	10	0.87932	D	0	.	18.5748	0.91150	0.0:0.0:1.0:0.0	.	4409	Q9NYC9	DYH9_HUMAN	N	4409;4333;2915;721	ENSP00000262442:D4409N;ENSP00000414874:D4333N;ENSP00000379323:D721N	ENSP00000262442:D4409N	D	+	1	0	DNAH9	11806290	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.788000	0.91834	2.618000	0.88619	0.655000	0.94253	GAC	DNAH9	-	pfam_Dynein_heavy	ENSG00000007174		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	173	0.00	0	G	NM_001372		11865565	11865565	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	179	20.26	46	SNP	1.000	A
DOCK6	57572	genome.wustl.edu	37	19	11325233	11325234	+	Frame_Shift_Ins	INS	-	-	CCAT	rs201255040		TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr19:11325233_11325234insCCAT	ENST00000294618.7	-	33	4209_4210	c.4198_4199insATGG	c.(4198-4200)gtgfs	p.V1400fs	DOCK6_ENST00000319867.7_Frame_Shift_Ins_p.V739fs|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1400					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCCTACCTGCACGATGATCTCC	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4198_4199insATGG	19.37:g.11325233_11325234insCCAT	ENSP00000294618:p.Val1400fs		A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Ins	INS	pfam_DOCK,pfam_DUF3398	p.V1400fs	ENST00000294618.7	37	c.4199_4198	CCDS45975.1	19																																																																																			DOCK6	-	NULL	ENSG00000130158		0.559	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	19	0.00	0	-	NM_020812		11325233	11325234	-1	no_errors	ENST00000294618	ensembl	human	known	69_37n	frame_shift_ins	19	26.92	7	INS	1.000:1.000	CCAT
FAM122B	159090	genome.wustl.edu	37	X	133923290	133923290	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chrX:133923290C>T	ENST00000370790.1	-	3	1112	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000486347.1_Missense_Mutation_p.G62S|FAM122B_ENST00000343004.5_Missense_Mutation_p.G81S|FAM122B_ENST00000298090.6_Missense_Mutation_p.G81S	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	62										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					ATATCCAGGCCTTCTTCCTGC	0.418																																						dbGAP											0													136.0	115.0	122.0					X																	133923290		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.184G>A	X.37:g.133923290C>T	ENSP00000359826:p.Gly62Ser		A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP	NULL	p.G81S	ENST00000370790.1	37	c.241	CCDS55497.1	X	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054792	0.75960	.	.	ENSG00000156504	ENST00000370790;ENST00000298090;ENST00000343004;ENST00000394270;ENST00000486347	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.86	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.69931	0.3166	M	0.70787	2.145	0.54753	D	0.999989	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.973;1.0;0.997;1.0;1.0;1.0	T	0.67632	-0.5621	10	0.23891	T	0.37	.	8.1565	0.31171	0.1584:0.7619:0.0:0.0798	.	28;81;9;62;62;81	B4DN12;G1UD80;Q7Z309-5;Q7Z309-2;Q7Z309;Q7Z309-3	.;.;.;.;F122B_HUMAN;.	S	62;81;81;81;62	ENSP00000359826:G62S;ENSP00000298090:G81S;ENSP00000339207:G81S;ENSP00000419592:G62S	ENSP00000298090:G81S	G	-	1	0	FAM122B	133750956	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	5.778000	0.68940	1.205000	0.43262	0.594000	0.82650	GGC	FAM122B	-	NULL	ENSG00000156504		0.418	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	HGNC	protein_coding	OTTHUMT00000058382.1	149	0.00	0	C	NM_145284		133923290	133923290	-1	no_errors	ENST00000343004	ensembl	human	known	69_37n	missense	97	21.60	27	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000379328.3_Splice_Site|GATA3_ENST00000461472.1_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(7)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	SO:0001630	splice_region_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.922-1CA>-	10.37:g.8111433_8111434delCA			Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	51	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	49	30.14	22	DEL	1.000:1.000	-
GFM2	84340	genome.wustl.edu	37	5	74026192	74026192	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr5:74026192A>G	ENST00000296805.3	-	17	2076	c.1619T>C	c.(1618-1620)aTa>aCa	p.I540T	GFM2_ENST00000509430.1_Missense_Mutation_p.I540T|GFM2_ENST00000345239.2_Missense_Mutation_p.I493T|GFM2_ENST00000515125.1_Intron	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		AATAATCTCTATATGTAACTC	0.393																																						dbGAP											0													109.0	101.0	104.0					5																	74026192		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1619T>C	5.37:g.74026192A>G	ENSP00000296805:p.Ile540Thr			Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.I540T	ENST00000296805.3	37	c.1619	CCDS4023.1	5	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479363	0.84747	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.73258	-0.73;-0.73;-0.73	5.64	5.64	0.86602	Elongation factor G/III/V (1);	0.046480	0.85682	D	0.000000	T	0.70272	0.3205	L	0.43923	1.385	0.80722	D	1	P;P;P	0.45176	0.609;0.852;0.474	B;P;B	0.46362	0.398;0.514;0.224	T	0.74408	-0.3675	10	0.87932	D	0	-13.7643	15.8682	0.79080	1.0:0.0:0.0:0.0	.	540;493;540	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	T	540;493;540	ENSP00000296805:I540T;ENSP00000296804:I493T;ENSP00000427004:I540T	ENSP00000296805:I540T	I	-	2	0	GFM2	74061948	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.065000	0.93941	2.160000	0.67779	0.454000	0.30748	ATA	GFM2	-	superfamily_Elongation_fac_G/III/V	ENSG00000164347		0.393	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM2	HGNC	protein_coding	OTTHUMT00000219860.2	232	0.00	0	A	NM_032380		74026192	74026192	-1	no_errors	ENST00000296805	ensembl	human	known	69_37n	missense	228	25.65	79	SNP	1.000	G
HDAC5	10014	genome.wustl.edu	37	17	42169118	42169118	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr17:42169118delT	ENST00000393622.2	-	10	1445	c.1114delA	c.(1114-1116)atcfs	p.I372fs	HDAC5_ENST00000586802.1_Frame_Shift_Del_p.I372fs|HDAC5_ENST00000336057.5_Frame_Shift_Del_p.I372fs|HDAC5_ENST00000225983.6_Frame_Shift_Del_p.I373fs	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	372					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCTAGGGAGATGTTGGGCAGA	0.582																																						dbGAP											0													158.0	131.0	140.0					17																	42169118		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1114delA	17.37:g.42169118delT	ENSP00000377244:p.Ile372fs		C9JFV9|O60340|O60528|Q96DY4	Frame_Shift_Del	DEL	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.I373fs	ENST00000393622.2	37	c.1117	CCDS45696.1	17																																																																																			HDAC5	-	pirsf_Histone_deAcase_II_euk	ENSG00000108840		0.582	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	13	0.00	0	T	NM_001015053		42169118	42169118	-1	no_errors	ENST00000225983	ensembl	human	known	69_37n	frame_shift_del	5	37.50	3	DEL	1.000	-
LARS2	23395	genome.wustl.edu	37	3	45583431	45583431	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr3:45583431G>T	ENST00000415258.1	+	20	2656	c.2515G>T	c.(2515-2517)Gtc>Ttc	p.V839F	LARS2_ENST00000414984.1_Missense_Mutation_p.V796F|LARS2_ENST00000265537.3_Missense_Mutation_p.V839F			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	839					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GCCTGAGGTTGTCCAGATGGC	0.597																																						dbGAP											0													74.0	66.0	69.0					3																	45583431		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2515G>T	3.37:g.45583431G>T	ENSP00000408576:p.Val839Phe			Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-synth_Ia_bac/mito,tigrfam_Leu-tRNA-synth_Ia_bac/mito	p.V839F	ENST00000415258.1	37	c.2515	CCDS2728.1	3	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367930	0.24771	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.14516	2.5;2.5;2.5	5.67	4.79	0.61399	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);	0.062784	0.64402	D	0.000006	T	0.41926	0.1180	M	0.82823	2.61	0.44668	D	0.997655	D;D	0.71674	0.998;0.994	D;D	0.67548	0.952;0.925	T	0.48969	-0.8987	10	0.87932	D	0	-23.6738	17.7597	0.88461	0.065:0.0:0.935:0.0	.	796;839	E9PHM2;Q15031	.;SYLM_HUMAN	F	839;839;796	ENSP00000265537:V839F;ENSP00000408576:V839F;ENSP00000412893:V796F	ENSP00000265537:V839F	V	+	1	0	LARS2	45558435	0.999000	0.42202	0.010000	0.14722	0.015000	0.08874	2.905000	0.48727	0.762000	0.33152	-1.151000	0.01829	GTC	LARS2	-	pfam_V/L/I-tRNA-synth_anticodon-bd,tigrfam_Leu-tRNA-synth_Ia_bac/mito	ENSG00000011376		0.597	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	34	0.00	0	G	NM_015340		45583431	45583431	+1	no_errors	ENST00000265537	ensembl	human	known	69_37n	missense	45	27.42	17	SNP	0.921	T
LPP	4026	genome.wustl.edu	37	3	188592262	188592262	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr3:188592262C>G	ENST00000312675.4	+	11	2080	c.1834C>G	c.(1834-1836)Ctt>Gtt	p.L612V	LPP_ENST00000543006.1_Missense_Mutation_p.L612V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	612					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGCACTGACCTTTAGATTCA	0.502			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	dbGAP		Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	0													95.0	87.0	90.0					3																	188592262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1834C>G	3.37:g.188592262C>G	ENSP00000318089:p.Leu612Val		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L612V	ENST00000312675.4	37	c.1834	CCDS3291.1	3	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909432	0.72868	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.66815	-0.23;-0.23	5.79	3.98	0.46160	.	0.125003	0.56097	D	0.000031	T	0.73133	0.3548	L	0.48642	1.525	0.49051	D	0.999741	B;D	0.76494	0.19;0.999	B;D	0.71656	0.034;0.974	T	0.74780	-0.3549	10	0.87932	D	0	.	9.2818	0.37733	0.0:0.7783:0.0:0.2217	.	465;612	B7Z8W0;Q93052	.;LPP_HUMAN	V	612	ENSP00000318089:L612V;ENSP00000438891:L612V	ENSP00000318089:L612V	L	+	1	0	LPP	190074956	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.086000	0.57664	1.444000	0.47605	0.655000	0.94253	CTT	LPP	-	NULL	ENSG00000145012		0.502	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1	124	0.00	0	C	NM_005578		188592262	188592262	+1	no_errors	ENST00000312675	ensembl	human	known	69_37n	missense	105	32.28	51	SNP	1.000	G
MALAT1	378938	genome.wustl.edu	37	11	65271742	65271742	+	lincRNA	SNP	A	A	G			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr11:65271742A>G	ENST00000534336.1	+	0	6510					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGGAATTTGGAGGGATGGGAG	0.418																																						dbGAP											0													34.0	35.0	35.0					11																	65271742		874	1988	2862	-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271742A>G				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.418	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	40	0.00	0	A	NR_002819		65271742	65271742	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	29	12.12	4	SNP	0.955	G
MED12	9968	genome.wustl.edu	37	X	70340968	70340968	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chrX:70340968A>T	ENST00000374080.3	+	5	733	c.701A>T	c.(700-702)gAt>gTt	p.D234V	MED12_ENST00000374102.1_Missense_Mutation_p.D234V|MED12_ENST00000333646.6_Missense_Mutation_p.D234V			Q93074	MED12_HUMAN	mediator complex subunit 12	234					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGGCAGTGGGATTACACCGAG	0.557			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													88.0	86.0	87.0					X																	70340968		2062	4175	6237	-	-	-	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.701A>T	X.37:g.70340968A>T	ENSP00000363193:p.Asp234Val		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.D234V	ENST00000374080.3	37	c.701	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	16.15	3.043043	0.55003	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.57907	0.39;0.39;0.39;0.37	5.44	5.44	0.79542	.	0.050278	0.85682	D	0.000000	T	0.54382	0.1855	L	0.36672	1.1	0.80722	D	1	B;P;P;B	0.48911	0.186;0.917;0.848;0.117	B;B;P;B	0.52109	0.159;0.368;0.69;0.103	T	0.52719	-0.8538	10	0.37606	T	0.19	-18.4754	14.5366	0.67966	1.0:0.0:0.0:0.0	.	234;81;234;234	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	V	234;234;234;234;202	ENSP00000333125:D234V;ENSP00000363215:D234V;ENSP00000363193:D234V;ENSP00000414203:D202V	ENSP00000333125:D234V	D	+	2	0	MED12	70257693	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.879000	0.92398	2.009000	0.58944	0.486000	0.48141	GAT	MED12	-	NULL	ENSG00000184634		0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	219	0.00	0	A	NM_005120		70340968	70340968	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	missense	95	45.76	81	SNP	1.000	T
MMP16	4325	genome.wustl.edu	37	8	89339325	89339326	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr8:89339325_89339326insT	ENST00000286614.6	-	1	391_392	c.110_111insA	c.(109-111)acgfs	p.T37fs	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA|RP11-586K2.1_ENST00000521433.1_RNA|RP11-586K2.1_ENST00000520849.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	37					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AATACTGCTCCGTTCCGCAGAC	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.110_111insA	8.37:g.89339325_89339326insT	ENSP00000286614:p.Thr37fs		B2RAN7|Q14824|Q52H48	Frame_Shift_Ins	INS	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.E38fs	ENST00000286614.6	37	c.111_110	CCDS6246.1	8																																																																																			MMP16	-	pirsf_Pept_M10A_matrix_strom	ENSG00000156103		0.510	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	70	0.00	0	-	NM_005941		89339325	89339326	-1	no_errors	ENST00000286614	ensembl	human	known	69_37n	frame_shift_ins	13	31.58	6	INS	0.993:1.000	T
MUC16	94025	genome.wustl.edu	37	19	9063372	9063372	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr19:9063372T>C	ENST00000397910.4	-	3	24277	c.24074A>G	c.(24073-24075)aAc>aGc	p.N8025S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8027	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGGTGAGTTGGTTACAGG	0.458																																						dbGAP											0													136.0	125.0	128.0					19																	9063372		1943	4142	6085	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24074A>G	19.37:g.9063372T>C	ENSP00000381008:p.Asn8025Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.N8025S	ENST00000397910.4	37	c.24074	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	5.292	0.239239	0.10023	.	.	ENSG00000181143	ENST00000397910	T	0.15834	2.39	2.87	-3.94	0.04130	.	.	.	.	.	T	0.04907	0.0132	N	0.00960	-1.095	.	.	.	B	0.10296	0.003	B	0.06405	0.002	T	0.37709	-0.9694	8	0.87932	D	0	.	7.2007	0.25879	0.0:0.2562:0.6108:0.133	.	8025	B5ME49	.	S	8025	ENSP00000381008:N8025S	ENSP00000381008:N8025S	N	-	2	0	MUC16	8924372	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.761000	0.01805	-0.501000	0.06605	-0.539000	0.04255	AAC	MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	191	0.00	0	T	NM_024690		9063372	9063372	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	316	34.97	171	SNP	0.000	C
NCL	4691	genome.wustl.edu	37	2	232326283	232326283	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr2:232326283T>C	ENST00000322723.4	-	3	821	c.581A>G	c.(580-582)gAt>gGt	p.D194G	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	194	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		atcctcatcatcttcgtcatc	0.483																																						dbGAP											0													327.0	242.0	271.0					2																	232326283		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.581A>G	2.37:g.232326283T>C	ENSP00000318195:p.Asp194Gly		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.D194G	ENST00000322723.4	37	c.581	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	T	12.40	1.925944	0.34002	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732	T	0.15603	2.41	5.23	4.05	0.47172	.	0.561063	0.21901	N	0.067450	T	0.18257	0.0438	L	0.57536	1.79	0.22317	N	0.999201	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	10	0.87932	D	0	-0.4419	9.5026	0.39026	0.0:0.0854:0.0:0.9146	.	194	P19338	NUCL_HUMAN	G	194;136;194	ENSP00000318195:D194G	ENSP00000318195:D194G	D	-	2	0	NCL	232034527	0.944000	0.32072	0.096000	0.21009	0.084000	0.17831	3.151000	0.50670	0.819000	0.34492	0.454000	0.30748	GAT	NCL	-	NULL	ENSG00000115053		0.483	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	116	0.00	0	T	NM_005381		232326283	232326283	-1	no_errors	ENST00000322723	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	0.098	C
NOL6	65083	genome.wustl.edu	37	9	33464042	33464042	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr9:33464042G>A	ENST00000379471.2	-	22	2984	c.2897C>T	c.(2896-2898)tCa>tTa	p.S966L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.S914L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	966					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AACCTGGGCTGAGGGTCCATC	0.577																																						dbGAP											0													160.0	141.0	148.0					9																	33464042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2897C>T	9.37:g.33464042G>A	ENSP00000368784:p.Ser966Leu		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.S966L	ENST00000379471.2	37	c.2897		9	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262043	0.80358	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.65	5.65	0.86999	.	0.416911	0.26075	N	0.026493	T	0.64811	0.2632	M	0.76170	2.325	0.54753	D	0.999981	D;P;D;P	0.53151	0.958;0.892;0.958;0.912	P;P;P;P	0.54210	0.745;0.545;0.638;0.674	T	0.66728	-0.5850	10	0.62326	D	0.03	.	19.699	0.96045	0.0:0.0:1.0:0.0	.	914;963;966;966	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	L	20;966;966;522;966;914	ENSP00000368783:S20L;ENSP00000297990:S966L;ENSP00000368784:S966L;ENSP00000395915:S914L	ENSP00000297990:S966L	S	-	2	0	NOL6	33454042	0.996000	0.38824	0.925000	0.36789	0.980000	0.70556	4.096000	0.57734	2.825000	0.97269	0.655000	0.94253	TCA	NOL6	-	pfam_Nrap	ENSG00000165271		0.577	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	96	0.00	0	G	NM_022917		33464042	33464042	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	missense	35	36.36	20	SNP	0.834	A
PBXIP1	57326	genome.wustl.edu	37	1	154919991	154919991	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr1:154919991G>C	ENST00000368463.3	-	9	843	c.772C>G	c.(772-774)Cct>Gct	p.P258A	PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Missense_Mutation_p.P85A|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P229A|PBXIP1_ENST00000542459.1_Missense_Mutation_p.P103A|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P227A	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	258					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGTCAGGAGGCACTGGGGCC	0.627																																						dbGAP											0													69.0	71.0	70.0					1																	154919991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.772C>G	1.37:g.154919991G>C	ENSP00000357448:p.Pro258Ala		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	NULL	p.P258A	ENST00000368463.3	37	c.772	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858923	0.17178	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459;ENST00000368460	T;T;T;T	0.11712	2.75;2.76;2.78;2.77	4.73	1.67	0.24075	.	0.455911	0.17754	N	0.163131	T	0.02610	0.0079	L	0.54323	1.7	0.09310	N	1	B	0.28291	0.206	B	0.28011	0.085	T	0.46789	-0.9166	10	0.08599	T	0.76	0.0039	8.0241	0.30427	0.0915:0.4751:0.4334:0.0	.	258	Q96AQ6	PBIP1_HUMAN	A	229;258;258;85;34;103;227	ENSP00000357450:P229A;ENSP00000357448:P258A;ENSP00000440142:P85A;ENSP00000438584:P103A	ENSP00000295523:P258A	P	-	1	0	PBXIP1	153186615	0.000000	0.05858	0.000000	0.03702	0.208000	0.24298	-0.080000	0.11339	0.050000	0.15949	0.313000	0.20887	CCT	PBXIP1	-	NULL	ENSG00000163346		0.627	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	46	0.00	0	G	NM_020524		154919991	154919991	-1	no_errors	ENST00000368463	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.000	C
PCDHA7	56141	genome.wustl.edu	37	5	140215913	140215913	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr5:140215913G>T	ENST00000525929.1	+	1	1945	c.1945G>T	c.(1945-1947)Gtg>Ttg	p.V649L	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V649L|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCTTCTGGTGCTTGTGAA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	dbGAP											0													61.0	66.0	64.0					5																	140215913		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1945G>T	5.37:g.140215913G>T	ENSP00000436426:p.Val649Leu		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V649L	ENST00000525929.1	37	c.1945	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559280	0.45590	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.53423	0.62;0.62	3.57	3.57	0.40892	Cadherin (4);Cadherin-like (1);	0.000000	0.29073	U	0.013233	T	0.66208	0.2766	M	0.87456	2.885	0.23975	N	0.996297	P;B	0.35714	0.517;0.419	P;B	0.51516	0.672;0.248	T	0.61671	-0.7015	10	0.72032	D	0.01	.	11.5219	0.50555	0.093:0.0:0.907:0.0	.	649;649	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	649	ENSP00000436426:V649L;ENSP00000367365:V649L	ENSP00000367365:V649L	V	+	1	0	PCDHA7	140196097	0.309000	0.24518	1.000000	0.80357	0.508000	0.34012	0.702000	0.25631	1.968000	0.57251	0.462000	0.41574	GTG	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204963		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	21	0.00	0	G	NM_018910		140215913	140215913	+1	no_errors	ENST00000525929	ensembl	human	known	69_37n	missense	3	72.73	8	SNP	0.847	T
POLR1D	51082	genome.wustl.edu	37	13	28197146	28197146	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr13:28197146C>T	ENST00000302979.3	+	3	1183	c.161C>T	c.(160-162)tCt>tTt	p.S54F	POLR1D_ENST00000465887.1_Intron|POLR1D_ENST00000399696.1_Missense_Mutation_p.S54F|LNX2_ENST00000316334.3_5'Flank|POLR1D_ENST00000399697.3_Intron	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	54					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CTAGGAAATTCTCTACGTTAC	0.458																																						dbGAP											0													105.0	104.0	104.0					13																	28197146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.161C>T	13.37:g.28197146C>T	ENSP00000302478:p.Ser54Phe		Q5TBX2|Q96BR3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like	p.S54F	ENST00000302979.3	37	c.161	CCDS9325.1	13	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075387	0.76415	.	.	ENSG00000186184	ENST00000302979;ENST00000399696	D;D	0.92647	-3.08;-3.08	4.42	3.56	0.40772	DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);DNA-directed RNA polymerase Rpb11, 13-16kDa subunit, conserved site (1);	.	.	.	.	D	0.94621	0.8266	M	0.86953	2.85	0.40800	D	0.983337	P	0.46512	0.879	P	0.54210	0.745	D	0.94681	0.7865	9	0.56958	D	0.05	-3.3699	10.3091	0.43697	0.0:0.7904:0.2096:0.0	.	54	Q9Y2S0	RPAC2_HUMAN	F	54	ENSP00000302478:S54F;ENSP00000382603:S54F	ENSP00000302478:S54F	S	+	2	0	POLR1D	27095146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.128000	0.57951	1.435000	0.47434	0.650000	0.86243	TCT	POLR1D	-	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like	ENSG00000186184		0.458	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POLR1D	HGNC	protein_coding	OTTHUMT00000044305.1	114	0.00	0	C	NM_015972, NM_152705		28197146	28197146	+1	no_errors	ENST00000302979	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	1.000	T
PSMB6	5694	genome.wustl.edu	37	17	4701319	4701319	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr17:4701319A>G	ENST00000270586.3	+	5	499	c.448A>G	c.(448-450)Atg>Gtg	p.M150V		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CTCAGTGCCTATGGGGGGTAT	0.522																																						dbGAP											0													110.0	100.0	103.0					17																	4701319		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.448A>G	17.37:g.4701319A>G	ENSP00000270586:p.Met150Val		Q96J55	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.M150V	ENST00000270586.3	37	c.448	CCDS11056.1	17	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660835	0.29515	.	.	ENSG00000142507	ENST00000270586	T	0.21361	2.01	5.17	5.17	0.71159	.	0.091655	0.85682	D	0.000000	T	0.11836	0.0288	N	0.10809	0.05	0.38542	D	0.949257	B	0.09022	0.002	B	0.04013	0.001	T	0.11060	-1.0603	10	0.38643	T	0.18	-13.0699	11.3269	0.49454	1.0:0.0:0.0:0.0	.	150	P28072	PSB6_HUMAN	V	150	ENSP00000270586:M150V	ENSP00000270586:M150V	M	+	1	0	PSMB6	4648277	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.145000	0.64839	2.162000	0.67917	0.533000	0.62120	ATG	PSMB6	-	pfam_Proteasome_sua/b	ENSG00000142507		0.522	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	HGNC	protein_coding	OTTHUMT00000207559.2	114	0.87	1	A	NM_002798		4701319	4701319	+1	no_errors	ENST00000270586	ensembl	human	known	69_37n	missense	70	21.11	19	SNP	1.000	G
PSMC4	5704	genome.wustl.edu	37	19	40480653	40480654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr19:40480653_40480654insC	ENST00000157812.2	+	6	789_790	c.591_592insC	c.(592-594)cccfs	p.P198fs	PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.P167fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614																																					Colon(105;1478 1543 4034 6132 38638)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.598dupC	19.37:g.40480660_40480660dupC	ENSP00000157812:p.Pro198fs		Q96FV5|Q9UBM3|Q9UEX3	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.R199fs	ENST00000157812.2	37	c.591_592	CCDS12547.1	19																																																																																			PSMC4	-	smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000013275		0.614	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	39	0.00	0	-	NM_006503		40480653	40480654	+1	no_errors	ENST00000157812	ensembl	human	known	69_37n	frame_shift_ins	37	11.90	5	INS	0.585:0.996	C
SLC9A6	10479	genome.wustl.edu	37	X	135126695	135126695	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chrX:135126695A>T	ENST00000370698.3	+	16	1857	c.1822A>T	c.(1822-1824)Aac>Tac	p.N608Y	SLC9A6_ENST00000370701.1_Missense_Mutation_p.N588Y|SLC9A6_ENST00000370695.4_Missense_Mutation_p.N640Y	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	608					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCTACTGTGAACACTGAACC	0.438																																						dbGAP											0													88.0	83.0	85.0					X																	135126695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1822A>T	X.37:g.135126695A>T	ENSP00000359732:p.Asn608Tyr		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.N640Y	ENST00000370698.3	37	c.1918	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	A	13.35	2.209964	0.39003	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.29142	1.58;1.58;1.58	5.48	4.29	0.51040	.	0.300838	0.42548	D	0.000697	T	0.23492	0.0568	L	0.29908	0.895	0.41141	D	0.985956	B;B	0.32302	0.041;0.363	B;B	0.32149	0.091;0.141	T	0.04840	-1.0923	10	0.66056	D	0.02	.	11.2337	0.48927	0.849:0.151:0.0:0.0	.	640;608	Q92581-2;Q92581	.;SL9A6_HUMAN	Y	588;608;640	ENSP00000359735:N588Y;ENSP00000359732:N608Y;ENSP00000359729:N640Y	ENSP00000359729:N640Y	N	+	1	0	SLC9A6	134954361	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.762000	0.68809	0.776000	0.33473	0.486000	0.48141	AAC	SLC9A6	-	NULL	ENSG00000198689		0.438	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	153	0.00	0	A	NM_006359		135126695	135126695	+1	no_errors	ENST00000370695	ensembl	human	known	69_37n	missense	139	33.49	70	SNP	1.000	T
SLITRK2	84631	genome.wustl.edu	37	X	144905128	144905129	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chrX:144905128_144905129insT	ENST00000370490.1	+	1	5440_5441	c.1185_1186insT	c.(1186-1188)ttafs	p.L396fs	SLITRK2_ENST00000413937.2_Frame_Shift_Ins_p.L396fs|SLITRK2_ENST00000434188.2_Frame_Shift_Ins_p.L396fs|SLITRK2_ENST00000447897.2_Frame_Shift_Ins_p.L396fs|SLITRK2_ENST00000428560.2_Frame_Shift_Ins_p.L396fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	396					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGAATGACCTCTTAGAATACAG	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1187dupT	X.37:g.144905130_144905130dupT	ENSP00000359521:p.Leu396fs		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L395fs	ENST00000370490.1	37	c.1185_1186	CCDS14680.1	X																																																																																			SLITRK2	-	NULL	ENSG00000185985		0.421	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	201	0.00	0	-	NM_032539		144905128	144905129	+1	no_errors	ENST00000370490	ensembl	human	known	69_37n	frame_shift_ins	38	36.67	22	INS	0.927:0.740	T
STXBP5	134957	genome.wustl.edu	37	6	147684477	147684477	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr6:147684477T>A	ENST00000321680.6	+	24	2552	c.2552T>A	c.(2551-2553)aTa>aAa	p.I851K	STXBP5_ENST00000367481.3_Missense_Mutation_p.I815K|STXBP5_ENST00000367480.3_Missense_Mutation_p.I798K|STXBP5_ENST00000179882.6_Missense_Mutation_p.I506K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	851					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTAGGTACTATATTGAGGTTA	0.343																																						dbGAP											0													36.0	39.0	38.0					6																	147684477		2201	4298	6499	-	-	-	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2552T>A	6.37:g.147684477T>A	ENSP00000321826:p.Ile851Lys		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.I851K	ENST00000321680.6	37	c.2552	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	T	18.78	3.697249	0.68386	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.79	5.79	0.91817	.	0.211451	0.49916	D	0.000135	T	0.16214	0.0390	L	0.39898	1.24	0.80722	D	1	B;P;P	0.35656	0.435;0.514;0.514	B;B;B	0.37650	0.154;0.203;0.255	T	0.03051	-1.1078	10	0.87932	D	0	.	16.1303	0.81428	0.0:0.0:0.0:1.0	.	815;851;506	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	K	190;815;851;798;506;175	ENSP00000356451:I815K;ENSP00000321826:I851K;ENSP00000356450:I798K;ENSP00000179882:I506K;ENSP00000376112:I175K	ENSP00000179882:I506K	I	+	2	0	STXBP5	147726170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.218000	0.71995	0.533000	0.62120	ATA	STXBP5	-	superfamily_WD40_repeat_dom	ENSG00000164506		0.343	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	147	0.68	1	T			147684477	147684477	+1	no_errors	ENST00000321680	ensembl	human	known	69_37n	missense	127	29.83	54	SNP	1.000	A
WDR72	256764	genome.wustl.edu	37	15	53907944	53907944	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A083-01A-21W-A019-09	TCGA-A8-A083-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1904e458-1a6c-4e91-88cc-10ee154ded5b	a3d7f86d-e67c-4588-9a94-f6c98ed06faa	g.chr15:53907944T>C	ENST00000396328.1	-	15	2698	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S	WDR72_ENST00000559418.1_Missense_Mutation_p.N830S|WDR72_ENST00000360509.5_Missense_Mutation_p.N820S|WDR72_ENST00000557913.1_Missense_Mutation_p.N817S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	820								p.N820T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTTAAAATATTGAGGTGCTT	0.373																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											95.0	98.0	97.0					15																	53907944		2193	4293	6486	-	-	-	SO:0001583	missense	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2459A>G	15.37:g.53907944T>C	ENSP00000379619:p.Asn820Ser		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N820S	ENST00000396328.1	37	c.2459	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	T	13.21	2.170198	0.38315	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34667	1.35;1.35	5.72	4.61	0.57282	.	0.211018	0.43260	N	0.000598	T	0.25158	0.0611	L	0.27053	0.805	0.24253	N	0.995317	B	0.17852	0.024	B	0.10450	0.005	T	0.15065	-1.0450	10	0.37606	T	0.19	.	10.1896	0.43019	0.0:0.0789:0.0:0.9211	.	820	Q3MJ13	WDR72_HUMAN	S	820	ENSP00000379619:N820S;ENSP00000353699:N820S	ENSP00000353699:N820S	N	-	2	0	WDR72	51695236	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.575000	0.36493	1.012000	0.39366	0.533000	0.62120	AAT	WDR72	-	NULL	ENSG00000166415		0.373	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	644	0.00	0	T	NM_182758		53907944	53907944	-1	no_errors	ENST00000360509	ensembl	human	known	69_37n	missense	741	14.70	128	SNP	1.000	C
