#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RBM27	54439	broad.mit.edu	37	5	145664246	145664246	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:145664246A>T	ENST00000265271.5	+	20	3216	c.3050A>T	c.(3049-3051)aAg>aTg	p.K1017M	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1017					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAAGCCCAAGGTACCATCT	0.378																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(3049-3051)aAg>aTg		RNA binding motif protein 27							101.0	97.0	98.0					5																	145664246		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145664246A>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.3050A>T	5.37:g.145664246A>T	ENSP00000265271:p.Lys1017Met					RBM27_ENST00000506502.1_Intron	p.K1017M	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3216	+			1017					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.3050A>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605557	0.87157	.	.	ENSG00000091009	ENST00000265271	T	0.51325	0.71	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.60203	-0.7309	10	0.46703	T	0.11	-16.0045	16.5582	0.84512	1.0:0.0:0.0:0.0	.	1017	Q9P2N5	RBM27_HUMAN	M	1017	ENSP00000265271:K1017M	ENSP00000265271:K1017M	K	+	2	0	RBM27	145644439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.205000	0.89743	2.308000	0.77769	0.533000	0.62120	AAG		0.378	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		33	68	0	0	0	1	0	33	68				
PAK2	5062	broad.mit.edu	37	3	196509546	196509546	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:196509546A>G	ENST00000327134.3	+	2	351	c.29A>G	c.(28-30)aAg>aGg	p.K10R	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	10					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTGGAAGATAAGCCTCCAGCA	0.418																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(28-30)aAg>aGg		p21 protein (Cdc42/Rac)-activated kinase 2							100.0	105.0	103.0					3																	196509546		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509546A>G	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.29A>G	3.37:g.196509546A>G	ENSP00000314067:p.Lys10Arg						p.K10R	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	2	351	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		10					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.29A>G	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604525	0.66445	.	.	ENSG00000180370	ENST00000327134	T	0.72942	-0.7	5.21	5.21	0.72293	.	0.096640	0.64402	D	0.000002	T	0.69655	0.3135	L	0.60067	1.865	0.80722	D	1	B	0.29212	0.237	B	0.34180	0.177	T	0.68481	-0.5397	10	0.39692	T	0.17	.	15.084	0.72135	1.0:0.0:0.0:0.0	.	10	Q13177	PAK2_HUMAN	R	10	ENSP00000314067:K10R	ENSP00000314067:K10R	K	+	2	0	PAK2	197993943	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.649000	0.91067	1.988000	0.58038	0.533000	0.62120	AAG		0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		4	199	0	0	0	1	0	4	199				
CLSTN1	22883	broad.mit.edu	37	1	9790619	9790619	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:9790619T>A	ENST00000377298.4	-	19	3685	c.2893A>T	c.(2893-2895)Aac>Tac	p.N965Y	CLSTN1_ENST00000361311.4_Missense_Mutation_p.N955Y|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_Missense_Mutation_p.N946Y	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	965					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGGGTTGCGTTCTGGGGGTCG	0.642																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(2893-2895)Aac>Tac		calsyntenin 1							92.0	82.0	85.0					1																	9790619		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9790619T>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2893A>T	1.37:g.9790619T>A	ENSP00000366513:p.Asn965Tyr					CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Missense_Mutation_p.N955Y|CLSTN1_ENST00000377288.3_Missense_Mutation_p.N946Y	p.N965Y	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	19	3685	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	965					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.2893A>T	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	T	8.053	0.766524	0.15983	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	5.19	-3.81	0.04294	.	1.571020	0.03610	N	0.234669	T	0.08044	0.0201	L	0.43152	1.355	0.24473	N	0.994381	B;B;B;B	0.30326	0.181;0.276;0.181;0.095	B;B;B;B	0.30029	0.051;0.11;0.051;0.069	T	0.38845	-0.9642	10	0.51188	T	0.08	-3.2844	5.8262	0.18554	0.0:0.2616:0.2316:0.5068	.	946;955;965;320	B4E3Q1;O94985-2;O94985;B3KMD3	.;.;CSTN1_HUMAN;.	Y	965;955;766;946;946	ENSP00000366513:N965Y;ENSP00000354997:N955Y;ENSP00000401934:N766Y;ENSP00000366502:N946Y	ENSP00000354997:N955Y	N	-	1	0	CLSTN1	9713206	0.449000	0.25689	0.000000	0.03702	0.009000	0.06853	0.802000	0.27069	-0.567000	0.06046	-0.250000	0.11733	AAC		0.642	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			16	55	0	0	0	1	0	16	55				
DNALI1	7802	broad.mit.edu	37	1	38027685	38027685	+	Missense_Mutation	SNP	G	G	A	rs372067106		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:38027685G>A	ENST00000296218.7	+	5	656	c.646G>A	c.(646-648)Gca>Aca	p.A216T	DNALI1_ENST00000497858.1_3'UTR|DNALI1_ENST00000541606.1_Missense_Mutation_p.A68T	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	194					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTCAGATCGCAGAATTGGA	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(646-648)Gca>Aca		dynein, axonemal, light intermediate chain 1		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	83.0	87.0	85.0		646	-0.7	1.0	1		85	0,8600		0,0,4300	no	missense	DNALI1	NM_003462.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	216/281	38027685	1,13005	2203	4300	6503	SO:0001583	missense	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38027685G>A	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.646G>A	1.37:g.38027685G>A	ENSP00000296218:p.Ala216Thr		OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	DNALI1_ENST00000541606.1_Missense_Mutation_p.A68T|DNALI1_ENST00000497858.1_3'UTR	p.A216T	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN			5	656	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	194					A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	c.646G>A	CCDS420.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421126	0.25639	2.27E-4	0.0	ENSG00000163879	ENST00000296218;ENST00000541606	T	0.44482	0.92	5.41	-0.66	0.11421	.	0.856780	0.10790	N	0.633892	T	0.22003	0.0530	N	0.19112	0.55	0.29587	N	0.848706	B	0.06786	0.001	B	0.08055	0.003	T	0.31475	-0.9942	10	0.15499	T	0.54	-0.0068	5.94	0.19187	0.2833:0.0:0.562:0.1547	.	194	O14645	IDLC_HUMAN	T	216;68	ENSP00000296218:A216T	ENSP00000296218:A216T	A	+	1	0	DNALI1	37800272	1.000000	0.71417	0.994000	0.49952	0.716000	0.41182	0.901000	0.28445	0.074000	0.16767	0.591000	0.81541	GCA		0.557	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		19	55	0	0	0	1	0	19	55				
CACNA1A	773	broad.mit.edu	37	19	13470441	13470441	+	Silent	SNP	C	C	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:13470441C>G	ENST00000360228.5	-	6	956	c.957G>C	c.(955-957)ggG>ggC	p.G319G	CACNA1A_ENST00000573710.2_Silent_p.G319G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	319					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GATCAGTCCACCCTTCCATGG	0.527																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(955-957)ggG>ggC		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						100.0	94.0	96.0					19																	13470441		2122	4245	6367	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13470441C>G	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.957G>C	19.37:g.13470441C>G						CACNA1A_ENST00000573710.2_Silent_p.G319G	p.G319G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		6	956	-			319					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.957G>C	CCDS45998.1																																																																																				0.527	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		9	19	0	0	0	1	0	9	19				
KCNA7	3743	broad.mit.edu	37	19	49575540	49575540	+	Silent	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:49575540C>T	ENST00000221444.1	-	1	658	c.303G>A	c.(301-303)gcG>gcA	p.A101A		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	101					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GTGCCAGGGCCGCCGCGCCCA	0.746																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(301-303)gcG>gcA		potassium voltage-gated channel, shaker-related subfamily, member 7							5.0	6.0	6.0					19																	49575540		1879	3749	5628	SO:0001819	synonymous_variant	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49575540C>T	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.303G>A	19.37:g.49575540C>T							p.A101A	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	1	658	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	101					A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	c.303G>A	CCDS12755.1																																																																																				0.746	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		6	3	0	0	0	1	0	6	3				
IFNA16	3449	broad.mit.edu	37	9	21217217	21217217	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:21217217G>A	ENST00000380216.1	-	1	93	c.88C>T	c.(88-90)Cac>Tac	p.H30Y		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	30					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCCAGGCTGTGAGTCTGAGGC	0.502																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(88-90)Cac>Tac		interferon, alpha 16							96.0	96.0	96.0					9																	21217217		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21217217G>A		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.88C>T	9.37:g.21217217G>A	ENSP00000369564:p.His30Tyr						p.H30Y	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	93	-			30					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.88C>T	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	13.69	2.313087	0.40895	.	.	ENSG00000147885	ENST00000380216	T	0.03580	3.88	2.62	2.62	0.31277	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.425549	0.23828	N	0.044169	T	0.13286	0.0322	M	0.88105	2.93	0.09310	N	1	B	0.33171	0.4	P	0.45577	0.486	T	0.01688	-1.1295	10	0.59425	D	0.04	.	10.5115	0.44864	0.0:0.0:1.0:0.0	.	30	P05015	IFN16_HUMAN	Y	30	ENSP00000369564:H30Y	ENSP00000369564:H30Y	H	-	1	0	IFNA16	21207217	0.013000	0.17824	0.007000	0.13788	0.156000	0.22039	1.286000	0.33273	1.471000	0.48121	0.184000	0.17185	CAC		0.502	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		119	112	0	0	0	1	0	119	112				
MLLT6	4302	broad.mit.edu	37	17	36864101	36864101	+	Silent	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:36864101C>T	ENST00000325718.7	+	4	421	c.330C>T	c.(328-330)taC>taT	p.Y110Y	CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_Silent_p.Y110Y	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	110					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCTGCAGTACGTGCCTCATG	0.617			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(328-330)taC>taT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							70.0	57.0	61.0					17																	36864101		2203	4300	6503	SO:0001819	synonymous_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36864101C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.330C>T	17.37:g.36864101C>T						MLLT6_ENST00000378137.5_Silent_p.Y110Y	p.Y110Y	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			4	421	+	Breast(7;4.43e-21)		110					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Silent	SNP	ENST00000325718.7	37	c.330C>T	CCDS11327.1																																																																																				0.617	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		14	38	0	0	0	1	0	14	38				
GRM1	2911	broad.mit.edu	37	6	146678785	146678785	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr6:146678785G>A	ENST00000282753.1	+	5	1792	c.1557G>A	c.(1555-1557)gtG>gtA	p.V519V	GRM1_ENST00000361719.2_Silent_p.V519V|GRM1_ENST00000392299.2_Silent_p.V519V|GRM1_ENST00000492807.2_Silent_p.V519V|GRM1_ENST00000507907.1_Silent_p.V519V|GRM1_ENST00000355289.4_Silent_p.V519V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	519					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGAGTGGAGTGGTGCGGTCTG	0.478																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1555-1557)gtG>gtA		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						156.0	124.0	135.0					6																	146678785		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146678785G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1557G>A	6.37:g.146678785G>A						GRM1_ENST00000507907.1_Silent_p.V519V|GRM1_ENST00000282753.1_Silent_p.V519V|GRM1_ENST00000355289.4_Silent_p.V519V|GRM1_ENST00000361719.2_Silent_p.V519V|GRM1_ENST00000492807.2_Silent_p.V519V	p.V519V			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	6	2027	+		Ovarian(120;0.0387)	519					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.1557G>A	CCDS5209.1																																																																																				0.478	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		23	64	0	0	0	1	0	23	64				
DLGAP4	22839	broad.mit.edu	37	20	35128025	35128025	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:35128025C>T	ENST00000373907.2	+	8	2244	c.2045C>T	c.(2044-2046)cCc>cTc	p.P682L	DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P143L|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P682L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	682					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAAGAGGAGCCCAGTCCCGCT	0.532																																						ENST00000339266.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2044-2046)cCc>cTc		discs, large (Drosophila) homolog-associated protein 4							77.0	73.0	74.0					20																	35128025		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35128025C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2045C>T	20.37:g.35128025C>T	ENSP00000363014:p.Pro682Leu					DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P143L|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P682L|DLGAP4_ENST00000373913.3_Intron	p.P682L	NM_001042486.2	NP_001035951.1	Q9Y2H0	DLGP4_HUMAN			7	2045	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	682					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2045C>T		.	.	.	.	.	.	.	.	.	.	C	10.45	1.353016	0.24512	.	.	ENSG00000080845	ENST00000373907;ENST00000339266;ENST00000340491	T;T;T	0.26223	1.75;1.75;1.75	5.25	5.25	0.73442	.	0.285313	0.39687	N	0.001295	T	0.18551	0.0445	.	.	.	0.54753	D	0.999986	B	0.02656	0.0	B	0.06405	0.002	T	0.04752	-1.0929	9	0.28530	T	0.3	.	11.3275	0.49456	0.0:0.9169:0.0:0.0831	.	143	Q9Y2H0-3	.	L	682;682;143	ENSP00000363014:P682L;ENSP00000341633:P682L;ENSP00000345700:P143L	ENSP00000341633:P682L	P	+	2	0	DLGAP4	34561439	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.654000	0.61469	2.449000	0.82847	0.650000	0.86243	CCC		0.532	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		9	16	0	0	0	1	0	9	16				
NFE2L2	4780	broad.mit.edu	37	2	178095969	178095969	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:178095969G>A	ENST00000397062.3	-	5	1916	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	NFE2L2_ENST00000446151.2_Silent_p.L431L|NFE2L2_ENST00000464747.1_Silent_p.L438L|NFE2L2_ENST00000397063.4_Silent_p.L438L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	454					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CATCTCTTGTGAGATGAGCCT	0.428			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1360-1362)ctC>ctT		nuclear factor, erythroid 2-like 2							162.0	149.0	153.0					2																	178095969		1875	4115	5990	SO:0001819	synonymous_variant	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095969G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1362C>T	2.37:g.178095969G>A		HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Silent_p.L438L|NFE2L2_ENST00000446151.2_Silent_p.L431L|NFE2L2_ENST00000397063.4_Silent_p.L438L	p.L454L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1916	-			454					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	ENST00000397062.3	37	c.1362C>T	CCDS42782.1																																																																																				0.428	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		70	181	0	0	0	1	0	70	181				
KIAA1549	57670	broad.mit.edu	37	7	138603675	138603675	+	Missense_Mutation	SNP	G	G	A	rs369822469		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:138603675G>A	ENST00000422774.1	-	2	745	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R233W|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R183W			Q9HCM3	K1549_HUMAN	KIAA1549	233						integral component of membrane (GO:0016021)		p.R233W(1)|p.R183W(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGCTGACCGAAAGGTGTGG	0.493			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	2	Substitution - Missense(2)	p.R233W(1)|p.R183W(1)	large_intestine(2)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(697-699)Cgg>Tgg		KIAA1549		G	TRP/ARG,TRP/ARG	0,4210		0,0,2105	133.0	142.0	139.0		697,697	-2.7	0.0	7		139	1,8427		0,1,4213	no	missense,missense	KIAA1549	NM_020910.2,NM_001164665.1	101,101	0,1,6318	AA,AG,GG		0.0119,0.0,0.0079	benign,benign	233/1935,233/1951	138603675	1,12637	2105	4214	6319	SO:0001583	missense	57670					integral to membrane		g.chr7:138603675G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.697C>T	7.37:g.138603675G>A	ENSP00000416040:p.Arg233Trp					KIAA1549_ENST00000242365.4_Missense_Mutation_p.R183W|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R233W	p.R233W	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	745	-			233					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.697C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142881	0.37825	0.0	1.19E-4	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.31510	1.49;1.49;1.49	4.68	-2.71	0.05986	.	2.073320	0.02184	N	0.060777	T	0.15219	0.0367	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.27123	-1.0083	10	0.56958	D	0.05	.	6.1846	0.20490	0.4504:0.2679:0.2817:0.0	.	233;233	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	W	233;183;233	ENSP00000406661:R233W;ENSP00000242365:R183W;ENSP00000416040:R233W	ENSP00000242365:R183W	R	-	1	2	KIAA1549	138254215	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.694000	0.05115	-0.670000	0.05282	0.561000	0.74099	CGG		0.493	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			29	96	0	0	0	1	0	29	96				
KIF27	55582	broad.mit.edu	37	9	86506407	86506407	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:86506407T>C	ENST00000297814.2	-	6	1755	c.1612A>G	c.(1612-1614)Ata>Gta	p.I538V	KIF27_ENST00000413982.1_Missense_Mutation_p.I538V|KIF27_ENST00000376347.1_5'Flank|KIF27_ENST00000334204.2_Missense_Mutation_p.I538V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	538					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTTCTATTATTTTTTCATTC	0.303																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(1612-1614)Ata>Gta		kinesin family member 27							43.0	39.0	41.0					9																	86506407		2203	4296	6499	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86506407T>C	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1612A>G	9.37:g.86506407T>C	ENSP00000297814:p.Ile538Val					KIF27_ENST00000334204.2_Missense_Mutation_p.I538V|KIF27_ENST00000413982.1_Missense_Mutation_p.I538V	p.I538V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			6	1755	-			538					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1612A>G	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.027249	0.35797	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.52057	0.68;0.68;0.68	5.07	3.9	0.45041	.	0.293242	0.28895	N	0.013791	T	0.40222	0.1108	L	0.51422	1.61	0.25789	N	0.984649	B;B;B	0.30146	0.225;0.27;0.144	B;B;B	0.27262	0.078;0.073;0.035	T	0.30707	-0.9969	10	0.44086	T	0.13	.	10.6899	0.45864	0.0:0.0:0.3071:0.6929	.	538;538;538	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	V	538	ENSP00000297814:I538V;ENSP00000401688:I538V;ENSP00000333928:I538V	ENSP00000297814:I538V	I	-	1	0	KIF27	85696227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.154000	0.42291	0.923000	0.37045	0.528000	0.53228	ATA		0.303	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		17	29	0	0	0	1	0	17	29				
NEUROD6	63974	broad.mit.edu	37	7	31378057	31378057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:31378057C>A	ENST00000297142.3	-	2	1148	c.826G>T	c.(826-828)Gaa>Taa	p.E276*		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	276					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGGTTTCTTCTTGCTTCAGG	0.483																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(826-828)Gaa>Taa		neuronal differentiation 6							82.0	82.0	82.0					7																	31378057		2203	4300	6503	SO:0001587	stop_gained	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378057C>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.826G>T	7.37:g.31378057C>A	ENSP00000297142:p.Glu276*						p.E276*	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	1148	-			276					Q548T9|Q9H3H6	Nonsense_Mutation	SNP	ENST00000297142.3	37	c.826G>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	38	6.805838	0.97853	.	.	ENSG00000164600	ENST00000297142	.	.	.	5.14	5.14	0.70334	.	0.095949	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.7693	18.6029	0.91255	0.0:1.0:0.0:0.0	.	.	.	.	X	276	.	ENSP00000297142:E276X	E	-	1	0	NEUROD6	31344582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.379000	0.81126	0.650000	0.86243	GAA		0.483	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		16	46	1	0	4.7546e-09	1	5.10166e-09	16	46				
CPNE4	131034	broad.mit.edu	37	3	131415428	131415428	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:131415428G>A	ENST00000512055.1	-	9	2591	c.465C>T	c.(463-465)gaC>gaT	p.D155D	CPNE4_ENST00000429747.1_Silent_p.D155D|CPNE4_ENST00000512332.1_Silent_p.D173D|CPNE4_ENST00000502818.1_Silent_p.D173D|CPNE4_ENST00000511604.1_Silent_p.D155D			Q96A23	CPNE4_HUMAN	copine IV	155	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GCTCAACATAGTCGTCATTGC	0.413																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(463-465)gaC>gaT		copine IV							183.0	160.0	168.0					3																	131415428		2203	4300	6503	SO:0001819	synonymous_variant	131034							g.chr3:131415428G>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.465C>T	3.37:g.131415428G>A						CPNE4_ENST00000512332.1_Silent_p.D173D|CPNE4_ENST00000511604.1_Silent_p.D155D|CPNE4_ENST00000502818.1_Silent_p.D173D|CPNE4_ENST00000429747.1_Silent_p.D155D	p.D155D			Q96A23	CPNE4_HUMAN			9	2591	-			155			C2 2.		D3DNC5|Q8TEX1	Silent	SNP	ENST00000512055.1	37	c.465C>T	CCDS3072.1																																																																																				0.413	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		31	90	0	0	0	1	0	31	90				
NUPL1	9818	broad.mit.edu	37	13	25881995	25881995	+	Silent	SNP	A	A	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr13:25881995A>C	ENST00000381736.3	+	2	409	c.159A>C	c.(157-159)ccA>ccC	p.P53P	NUPL1_ENST00000381718.3_Silent_p.P53P|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Silent_p.P53P	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	53	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CTTCAACTCCAGCAACTACAT	0.428																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	ENST00000463407.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16						c.(157-159)ccA>ccC		nucleoporin like 1							79.0	83.0	82.0					13																	25881995		2203	4300	6503	SO:0001819	synonymous_variant	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25881995A>C	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.159A>C	13.37:g.25881995A>C						NUPL1_ENST00000381718.3_Silent_p.P53P|NUPL1_ENST00000381736.3_Silent_p.P53P|NUPL1_ENST00000466694.1_3'UTR	p.P53P			Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	2	302	+		Lung SC(185;0.0225)|Breast(139;0.0351)	53			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Silent	SNP	ENST00000381736.3	37	c.159A>C	CCDS9314.1																																																																																				0.428	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			31	100	0	0	0	1	0	31	100				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	28	0	0	0	1	0	4	28				
RAB11FIP3	9727	broad.mit.edu	37	16	538871	538871	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:538871C>A	ENST00000262305.4	+	5	1524	c.1136C>A	c.(1135-1137)tCt>tAt	p.S379Y	RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.S83Y|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.S379Y	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	379					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CATGGCCAGTCTGTCATCACG	0.597																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1135-1137)tCt>tAt		RAB11 family interacting protein 3 (class II)							81.0	71.0	74.0					16																	538871		2202	4300	6502	SO:0001583	missense	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:538871C>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1136C>A	16.37:g.538871C>A	ENSP00000262305:p.Ser379Tyr					RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.S83Y|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.S379Y	p.S379Y	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			5	1524	+		Hepatocellular(16;0.0218)	379					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	c.1136C>A	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037668	0.54896	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000452814;ENST00000449879;ENST00000448401;ENST00000412256	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	T	0.70500	0.3231	L	0.61218	1.895	0.33893	D	0.637616	D;P;P	0.61080	0.989;0.892;0.947	P;B;P	0.57152	0.814;0.444;0.556	T	0.79638	-0.1720	8	0.87932	D	0	-3.6289	18.2248	0.89914	0.0:1.0:0.0:0.0	.	379;83;379	O75154-3;O75154-2;O75154	.;.;RFIP3_HUMAN	Y	379;379;255;83;69;83;83;34	.	ENSP00000262305:S379Y	S	+	2	0	RAB11FIP3	478872	1.000000	0.71417	0.644000	0.29465	0.149000	0.21700	6.440000	0.73435	2.602000	0.87976	0.655000	0.94253	TCT		0.597	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		9	42	1	0	1.33987e-11	1	1.44824e-11	9	42				
ITSN2	50618	broad.mit.edu	37	2	24533505	24533505	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:24533505T>C	ENST00000355123.4	-	6	852	c.409A>G	c.(409-411)Ata>Gta	p.I137V	ITSN2_ENST00000407704.1_5'Flank|ITSN2_ENST00000361999.3_Missense_Mutation_p.I137V|ITSN2_ENST00000406921.3_Missense_Mutation_p.I137V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	137					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGATGTTATAGGTGCAGCT	0.448																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(409-411)Ata>Gta		intersectin 2							135.0	117.0	123.0					2																	24533505		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533505T>C	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.409A>G	2.37:g.24533505T>C	ENSP00000347244:p.Ile137Val					ITSN2_ENST00000406921.3_Missense_Mutation_p.I137V|ITSN2_ENST00000361999.3_Missense_Mutation_p.I137V	p.I137V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			6	852	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		137					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.409A>G	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	T	5.596	0.294767	0.10567	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.56941	0.44;0.43;0.44;0.88;1.02;1.7	5.16	-2.22	0.06952	.	0.613382	0.13273	U	0.400361	T	0.22205	0.0535	N	0.12746	0.255	0.09310	N	1	B;B;P;B	0.35011	0.147;0.147;0.48;0.179	B;B;B;B	0.34489	0.13;0.13;0.184;0.059	T	0.16070	-1.0415	10	0.15499	T	0.54	.	0.192	0.00135	0.2314:0.248:0.2165:0.3041	.	137;137;137;137	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	V	137;137;137;136;137;137;123	ENSP00000354561:I137V;ENSP00000347244:I137V;ENSP00000370250:I137V;ENSP00000384499:I137V;ENSP00000391224:I137V;ENSP00000391715:I123V	ENSP00000347244:I137V	I	-	1	0	ITSN2	24387009	0.005000	0.15991	0.059000	0.19551	0.902000	0.53008	-0.032000	0.12266	-0.187000	0.10516	0.383000	0.25322	ATA		0.448	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		19	51	0	0	0	1	0	19	51				
TBC1D15	64786	broad.mit.edu	37	12	72312230	72312230	+	Splice_Site	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr12:72312230G>T	ENST00000550746.1	+	15	1616		c.e15-1		TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTCTGCATAGAATCTCAGGA	0.333																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e15-1		TBC1 domain family, member 15							173.0	179.0	177.0					12																	72312230		2202	4300	6502	SO:0001630	splice_region_variant	64786						protein binding|Rab GTPase activator activity	g.chr12:72312230G>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1553-1G>T	12.37:g.72312230G>T						TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site		NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			15	1616	+								B4DMT9|B9A6L6|J3KNI9|Q9HA83	Splice_Site	SNP	ENST00000550746.1	37		CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942404	0.73672	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	.	.	.	5.54	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3522	0.66711	0.0708:0.0:0.9292:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D15	70598497	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.706000	0.98722	1.356000	0.45884	0.655000	0.94253	.		0.333	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	Intron	27	75	1	0	6.32553e-13	1	6.9392e-13	27	75				
NLRP6	171389	broad.mit.edu	37	11	281034	281034	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:281034G>A	ENST00000312165.5	+	4	1300	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	NLRP6_ENST00000534750.1_Missense_Mutation_p.D434N	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	434	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCGGTAGCCGACGGGCCCCG	0.672																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1300-1302)Gac>Aac		NLR family, pyrin domain containing 6							61.0	70.0	67.0					11																	281034		2202	4290	6492	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281034G>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1300G>A	11.37:g.281034G>A	ENSP00000309767:p.Asp434Asn					NLRP6_ENST00000312165.5_Missense_Mutation_p.D434N	p.D434N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1505	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	434			NACHT.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1300G>A	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.493364	0.00159	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75589	-0.95;-0.93	2.77	0.807	0.18714	NACHT nucleoside triphosphatase (1);	1.229040	0.06102	N	0.665525	T	0.53562	0.1804	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.003;0.001	T	0.32981	-0.9886	10	0.12430	T	0.62	.	6.0156	0.19601	0.2991:0.0:0.7009:0.0	.	434;434	E9PJZ8;P59044	.;NALP6_HUMAN	N	434	ENSP00000433617:D434N;ENSP00000309767:D434N	ENSP00000309767:D434N	D	+	1	0	NLRP6	271034	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.295000	0.02764	0.213000	0.20722	0.455000	0.32223	GAC		0.672	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		15	128	0	0	0	1	0	15	128				
TP53	7157	broad.mit.edu	37	17	7577017	7577017	+	Splice_Site	SNP	A	A	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:7577017A>C	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGCTTGCTTACCTCGCTTAG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		16	Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(2)	p.0?(8)|p.?(6)|p.A307fs*34(1)|p.L308fs*31(1)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|stomach(1)|urinary_tract(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e8+1	Other conserved DNA damage response genes	tumor protein p53							128.0	112.0	117.0					17																	7577017		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577017A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.919+1T>G	17.37:g.7577017A>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1052	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	8.950	0.968007	0.18659	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7248	0.28753	0.8139:0.0:0.0:0.1861	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517742	1.000000	0.71417	0.780000	0.31762	0.217000	0.24651	7.280000	0.78610	0.855000	0.35359	0.459000	0.35465	.		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	44	26	0	0	0	1	0	44	26				
ZNF646	9726	broad.mit.edu	37	16	31091550	31091550	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:31091550G>C	ENST00000394979.2	+	1	4328	c.3905G>C	c.(3904-3906)gGg>gCg	p.G1302A	ZNF646_ENST00000300850.5_Missense_Mutation_p.G1302A			O15015	ZN646_HUMAN	zinc finger protein 646	1302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TTCCGCTGTGGGCAGTGCGGG	0.701																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3904-3906)gGg>gCg		zinc finger protein 646							24.0	25.0	25.0					16																	31091550		2196	4298	6494	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091550G>C	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3905G>C	16.37:g.31091550G>C	ENSP00000378429:p.Gly1302Ala					ZNF646_ENST00000300850.5_Missense_Mutation_p.G1302A	p.G1302A			O15015	ZN646_HUMAN			1	4328	+			1302					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.3905G>C		.	.	.	.	.	.	.	.	.	.	G	12.67	2.007395	0.35415	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.51574	0.7;0.7	5.13	5.13	0.70059	.	.	.	.	.	T	0.31389	0.0795	N	0.05619	-0.0049999999999999	0.34379	D	0.692939	P	0.52316	0.952	P	0.45610	0.487	T	0.37314	-0.9711	9	0.37606	T	0.19	-24.583	10.9919	0.47553	0.0861:0.0:0.9139:0.0	.	1302	O15015-2	.	A	1302;1302;174	ENSP00000300850:G1302A;ENSP00000378429:G1302A	ENSP00000300850:G1302A	G	+	2	0	ZNF646	30999051	0.005000	0.15991	1.000000	0.80357	0.022000	0.10575	1.768000	0.38511	2.667000	0.90743	0.561000	0.74099	GGG		0.701	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		16	21	0	0	0	1	0	16	21				
LRP12	29967	broad.mit.edu	37	8	105521276	105521276	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:105521276G>C	ENST00000276654.5	-	3	271	c.163C>G	c.(163-165)Cga>Gga	p.R55G	LRP12_ENST00000424843.2_Missense_Mutation_p.R36G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	55	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.R55G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGTGCTCGTATTTGCTCT	0.408																																						ENST00000276654.5																			1	Substitution - Missense(1)	p.R55G(1)	ovary(1)	NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(163-165)Cga>Gga		low density lipoprotein receptor-related protein 12							144.0	138.0	140.0					8																	105521276		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105521276G>C	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.163C>G	8.37:g.105521276G>C	ENSP00000276654:p.Arg55Gly					LRP12_ENST00000424843.2_Missense_Mutation_p.R36G	p.R55G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	271	-			55			CUB 1.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.163C>G	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936726	0.52972	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	T;T	0.18338	2.22;2.22	5.44	4.45	0.53987	CUB (5);	0.062565	0.64402	D	0.000009	T	0.19927	0.0479	L	0.35341	1.055	0.80722	D	1	P;B;B	0.43169	0.8;0.095;0.116	P;B;B	0.48304	0.573;0.084;0.137	T	0.00624	-1.1639	10	0.40728	T	0.16	-9.7109	13.7976	0.63180	0.0:0.0:0.737:0.263	.	36;36;55	Q68DE8;Q9Y561-2;Q9Y561	.;.;LRP12_HUMAN	G	36;55;55	ENSP00000399148:R36G;ENSP00000276654:R55G	ENSP00000276654:R55G	R	-	1	2	LRP12	105590452	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	2.439000	0.44846	2.711000	0.92665	0.561000	0.74099	CGA		0.408	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		31	113	0	0	0	1	0	31	113				
XAB2	56949	broad.mit.edu	37	19	7690779	7690779	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:7690779C>T	ENST00000358368.4	-	6	846	c.809G>A	c.(808-810)gGc>gAc	p.G270D	XAB2_ENST00000534844.1_Missense_Mutation_p.G267D	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	270					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCGAAATGGCCGCTGCGGAT	0.632								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(808-810)gGc>gAc	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							52.0	52.0	52.0					19																	7690779		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7690779C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.809G>A	19.37:g.7690779C>T	ENSP00000351137:p.Gly270Asp					XAB2_ENST00000534844.1_Missense_Mutation_p.G267D	p.G270D	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			6	846	-			270					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.809G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328908	0.81690	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	D;D	0.93076	-3.16;-3.16	4.61	4.61	0.57282	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.132743	0.49916	D	0.000122	D	0.96920	0.8994	M	0.90483	3.12	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	D	0.97587	1.0114	10	0.87932	D	0	-40.278	14.4717	0.67521	0.0:1.0:0.0:0.0	.	270	Q9HCS7	SYF1_HUMAN	D	270;267	ENSP00000351137:G270D;ENSP00000438225:G267D	ENSP00000351137:G270D	G	-	2	0	XAB2	7596779	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	7.052000	0.76634	2.396000	0.81511	0.555000	0.69702	GGC		0.632	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		4	52	0	0	0	1	0	4	52				
SCNN1B	6338	broad.mit.edu	37	16	23364163	23364163	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:23364163T>C	ENST00000343070.2	+	3	529	c.353T>C	c.(352-354)cTg>cCg	p.L118P	SCNN1B_ENST00000568923.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000568085.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L163P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	118					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGGATGAGCTGATGGAAGCT	0.517																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(352-354)cTg>cCg		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						107.0	96.0	100.0					16																	23364163		2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23364163T>C	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.353T>C	16.37:g.23364163T>C	ENSP00000345751:p.Leu118Pro					SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568085.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000568923.1_Missense_Mutation_p.L118P|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L163P	p.L118P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	3	529	+			118					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.353T>C	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840429	0.71488	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.62639	0.01;0.01	5.0	5.0	0.66597	.	3.762580	0.00935	N	0.002776	D	0.82907	0.5139	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63265	-0.6676	10	0.62326	D	0.03	-6.5618	13.8924	0.63747	0.0:0.0:0.0:1.0	.	118	P51168	SCNNB_HUMAN	P	118;163	ENSP00000345751:L118P;ENSP00000302874:L163P	ENSP00000302874:L163P	L	+	2	0	SCNN1B	23271664	1.000000	0.71417	0.987000	0.45799	0.970000	0.65996	5.028000	0.64115	1.857000	0.53885	0.460000	0.39030	CTG		0.517	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			26	57	0	0	0	1	0	26	57				
CES5A	221223	broad.mit.edu	37	16	55903523	55903523	+	Splice_Site	SNP	G	G	A	rs147903375		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:55903523G>A	ENST00000290567.9	-	4	672	c.551C>T	c.(550-552)aCc>aTc	p.T184I	CES5A_ENST00000541580.1_Intron|CES5A_ENST00000521992.1_Splice_Site_p.T213I|CES5A_ENST00000319165.9_Splice_Site_p.T184I|CES5A_ENST00000518005.1_Splice_Site_p.T78I|CES5A_ENST00000520435.1_Splice_Site_p.T154I	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	184						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGAGACTCACGTGAAGAAACC	0.557																																						ENST00000521992.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.e5+1		carboxylesterase 5A		G	ILE/THR,ILE/THR,ILE/THR	0,4396	2.1+/-5.4	0,0,2198	69.0	56.0	61.0		551,638,551	-9.5	0.8	16	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice,missense-near-splice	CES5A	NM_001143685.1,NM_001190158.1,NM_145024.2	89,89,89	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	184/576,213/605,184/526	55903523	1,12995	2198	4300	6498	SO:0001630	splice_region_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55903523G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.551+1C>T	16.37:g.55903523G>A						CES5A_ENST00000290567.9_Splice_Site_p.T184_splice|CES5A_ENST00000319165.9_Splice_Site_p.T184_splice|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Splice_Site_p.T154_splice|CES5A_ENST00000518005.1_Splice_Site_p.T78_splice	p.T213_splice	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN			5	783	-			184					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Splice_Site	SNP	ENST00000290567.9	37	c.638_splice	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863521	0.71949	0.0	1.16E-4	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	4.94	-9.54	0.00572	Carboxylesterase, type B (1);	0.890008	0.09580	N	0.782965	T	0.56499	0.1989	L	0.49126	1.545	0.35703	D	0.815771	P;D	0.54047	0.953;0.964	P;B	0.45639	0.488;0.345	T	0.72721	-0.4208	10	0.87932	D	0	.	10.0135	0.42001	0.0:0.4533:0.3784:0.1683	.	184;184	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	I	213;184;78;184;154	ENSP00000428864:T213I;ENSP00000324271:T184I;ENSP00000428571:T78I;ENSP00000290567:T184I;ENSP00000428887:T154I	ENSP00000290567:T184I	T	-	2	0	CES5A	54461024	0.862000	0.29867	0.836000	0.33094	0.722000	0.41435	-0.087000	0.11215	-1.807000	0.01236	-0.312000	0.09012	ACC		0.557	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	Missense_Mutation	22	66	0	0	0	1	0	22	66				
PLEKHO1	51177	broad.mit.edu	37	1	150128298	150128298	+	Silent	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:150128298G>C	ENST00000369124.4	+	3	494	c.216G>C	c.(214-216)ctG>ctC	p.L72L	PLEKHO1_ENST00000025469.6_Silent_p.L72L|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	72	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATTTGACCTGAGTGACTATG	0.458																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(214-216)ctG>ctC		pleckstrin homology domain containing, family O member 1							109.0	115.0	113.0					1																	150128298		2203	4300	6503	SO:0001819	synonymous_variant	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150128298G>C	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.216G>C	1.37:g.150128298G>C						PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Silent_p.L72L|PLEKHO1_ENST00000479194.1_3'UTR	p.L72L	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	494	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		72			PH.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	ENST00000369124.4	37	c.216G>C	CCDS945.1																																																																																				0.458	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		51	128	0	0	0	1	0	51	128				
TMEM215	401498	broad.mit.edu	37	9	32784684	32784684	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:32784684C>T	ENST00000342743.5	+	2	868	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	168						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TACTGCCCCTCGGGCAGTTCC	0.587																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(502-504)tCg>tTg		transmembrane protein 215							52.0	48.0	49.0					9																	32784684		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784684C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.503C>T	9.37:g.32784684C>T	ENSP00000345468:p.Ser168Leu						p.S168L	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	868	+			168					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.503C>T	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920509	0.33908	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.82	5.82	0.92795	.	0.214550	0.32015	N	0.006705	T	0.65481	0.2695	N	0.24115	0.695	0.42046	D	0.991099	D	0.89917	1.0	D	0.81914	0.995	T	0.68006	-0.5523	9	0.59425	D	0.04	-6.4636	17.5939	0.88005	0.0:1.0:0.0:0.0	.	168	Q68D42	TM215_HUMAN	L	168	.	ENSP00000345468:S168L	S	+	2	0	TMEM215	32774684	0.904000	0.30761	0.598000	0.28837	0.284000	0.27059	2.821000	0.48065	2.760000	0.94817	0.655000	0.94253	TCG		0.587	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		25	31	0	0	0	1	0	25	31				
C12orf36	283422	broad.mit.edu	37	12	13529204	13529204	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr12:13529204C>T	ENST00000318426.2	-	2	353	c.136G>A	c.(136-138)Gat>Aat	p.D46N	C12orf36_ENST00000532841.1_Missense_Mutation_p.D46N|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Missense_Mutation_p.D46N|C12orf36_ENST00000527705.2_Missense_Mutation_p.D46N					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		AACAACTGatctgggtcagcc	0.522																																						ENST00000318426.2																			0				lung(3)|skin(3)	6						c.(136-138)Gat>Aat		chromosome 12 open reading frame 36							99.0	98.0	98.0					12																	13529204		2203	4300	6503	SO:0001583	missense	283422							g.chr12:13529204C>T	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.136G>A	12.37:g.13529204C>T	ENSP00000443007:p.Asp46Asn					C12orf36_ENST00000527705.2_Missense_Mutation_p.D46N|C12orf36_ENST00000539026.1_Missense_Mutation_p.D46N|C12orf36_ENST00000532841.1_Missense_Mutation_p.D46N|C12orf36_ENST00000531049.1_5'UTR	p.D46N						BRCA - Breast invasive adenocarcinoma(232;0.198)	2	353	-									Missense_Mutation	SNP	ENST00000318426.2	37	c.136G>A		.	.	.	.	.	.	.	.	.	.	C	7.622	0.676984	0.14841	.	.	ENSG00000180861	ENST00000318426;ENST00000527705;ENST00000539026;ENST00000532841	T;T;T;T	0.59502	1.49;1.49;0.38;0.26	2.88	0.893	0.19236	.	.	.	.	.	T	0.40067	0.1102	.	.	.	0.09310	N	1	B	0.27229	0.172	B	0.20955	0.032	T	0.34775	-0.9815	8	0.87932	D	0	.	3.3996	0.07319	0.0:0.5178:0.3034:0.1788	.	46	Q495D7	CL036_HUMAN	N	46	ENSP00000443007:D46N;ENSP00000443346:D46N;ENSP00000445251:D46N;ENSP00000440159:D46N	ENSP00000443007:D46N	D	-	1	0	C12orf36	13420471	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-0.403000	0.07214	0.205000	0.20568	0.563000	0.77884	GAT		0.522	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395025.2	NM_182558		19	40	0	0	0	1	0	19	40				
FIGN	55137	broad.mit.edu	37	2	164467739	164467739	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:164467739C>G	ENST00000333129.3	-	3	917	c.603G>C	c.(601-603)caG>caC	p.Q201H	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	201					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAGGTGCTGGCTGGCTACTAT	0.552																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(601-603)caG>caC		fidgetin							69.0	77.0	74.0					2																	164467739		2060	4201	6261	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467739C>G	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.603G>C	2.37:g.164467739C>G	ENSP00000333836:p.Gln201His					FIGN_ENST00000409634.1_Intron	p.Q201H	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	917	-			201					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.603G>C	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103565	0.37145	.	.	ENSG00000182263	ENST00000333129	T	0.26518	1.73	6.16	5.24	0.73138	.	0.058908	0.64402	D	0.000002	T	0.39733	0.1089	M	0.61703	1.905	0.58432	D	0.999997	D	0.61080	0.989	P	0.53912	0.737	T	0.30563	-0.9974	10	0.72032	D	0.01	-11.0923	12.4672	0.55766	0.0:0.8532:0.0:0.1468	.	201	Q5HY92	FIGN_HUMAN	H	201	ENSP00000333836:Q201H	ENSP00000333836:Q201H	Q	-	3	2	FIGN	164175985	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.845000	0.55880	1.487000	0.48415	0.650000	0.86243	CAG		0.552	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		15	36	0	0	0	1	0	15	36				
PKNOX2	63876	broad.mit.edu	37	11	125237806	125237806	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:125237806C>A	ENST00000298282.9	+	5	423	c.152C>A	c.(151-153)gCt>gAt	p.A51D	PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	51					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCCTCAGCTGCTGCCAGCACA	0.622																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(151-153)gCt>gAt		PBX/knotted 1 homeobox 2							55.0	65.0	62.0					11																	125237806		2086	4203	6289	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125237806C>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.152C>A	11.37:g.125237806C>A	ENSP00000298282:p.Ala51Asp					PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR	p.A51D	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	5	423	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	51					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.152C>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370686	0.42003	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000535518	T;T;T	0.52295	0.67;0.67;0.67	5.49	5.49	0.81192	.	0.116942	0.56097	D	0.000025	T	0.33731	0.0873	N	0.19112	0.55	0.80722	D	1	B	0.27498	0.18	B	0.19391	0.025	T	0.10474	-1.0628	10	0.18710	T	0.47	-0.0286	18.1483	0.89665	0.0:1.0:0.0:0.0	.	51	Q96KN3	PKNX2_HUMAN	D	22;22;51;39	ENSP00000434732:A22D;ENSP00000433971:A22D;ENSP00000298282:A51D	ENSP00000298282:A51D	A	+	2	0	PKNOX2	124743016	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	5.075000	0.64407	2.564000	0.86499	0.563000	0.77884	GCT		0.622	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			18	22	1	0	2.94398e-08	1	3.11342e-08	18	22				
IL1RAP	3556	broad.mit.edu	37	3	190338140	190338140	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:190338140C>G	ENST00000412504.2	+	5	866	c.614C>G	c.(613-615)tCa>tGa	p.S205*	IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000434491.1_Nonsense_Mutation_p.S64*|IL1RAP_ENST00000422485.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000422940.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.S205*			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	205	Ig-like C2-type 2.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCCTTAATTTCAAATAATGGA	0.318																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(613-615)tCa>tGa		interleukin 1 receptor accessory protein							105.0	100.0	101.0					3																	190338140		2203	4300	6503	SO:0001587	stop_gained	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190338140C>G	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.614C>G	3.37:g.190338140C>G	ENSP00000412053:p.Ser205*					IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000422940.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000434491.1_Nonsense_Mutation_p.S64*|IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.S205*|IL1RAP_ENST00000422485.1_Nonsense_Mutation_p.S205*	p.S205*			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	5	866	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		205			Ig-like C2-type 2.		B1NLD0|D3DNW0|O14915|Q86WJ7	Nonsense_Mutation	SNP	ENST00000412504.2	37	c.614C>G	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.131267|5.131267	0.94473|0.94473	.|.	.|.	ENSG00000196083|ENSG00000196083	ENST00000412080|ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.610036	.|0.16017	.|N	.|0.233513	T|.	0.69557|.	0.3124|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76402|.	-0.2972|.	3|.	.|0.59425	.|D	.|0.04	.|.	14.6515|14.6515	0.68800|0.68800	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	42|205;205;205;205;205;205;64;205;205	.|.	.|ENSP00000072516:S205X	Q|S	+|+	1|2	0|0	IL1RAP|IL1RAP	191820834|191820834	0.862000|0.862000	0.29867|0.29867	0.984000|0.984000	0.44739|0.44739	0.972000|0.972000	0.66771|0.66771	1.489000|1.489000	0.35562|0.35562	2.589000|2.589000	0.87451|0.87451	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.318	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			39	67	0	0	0	1	0	39	67				
EPPK1	83481	broad.mit.edu	37	8	144944616	144944616	+	Missense_Mutation	SNP	G	G	A	rs373257586		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:144944616G>A	ENST00000525985.1	-	2	2877	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W				P58107	EPIPL_HUMAN	epiplakin 1	936						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCAGCAGCCGCACACCGCCC	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		14805	0.001		0.0	False		,,,				2504	0.0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2806-2808)Cgg>Tgg		epiplakin 1		G	TRP/ARG	1,4061		0,1,2030	11.0	14.0	13.0		2806	2.0	0.1	8		13	1,8323		0,1,4161	no	missense	EPPK1	NM_031308.1	101	0,2,6191	AA,AG,GG		0.012,0.0246,0.0161	possibly-damaging	936/2420	144944616	2,12384	2031	4162	6193	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944616G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2806C>T	8.37:g.144944616G>A	ENSP00000436337:p.Arg936Trp						p.R936W			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2877	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		936					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2806C>T		.	.	.	.	.	.	.	.	.	.	G	8.620	0.891090	0.17613	2.46E-4	1.2E-4	ENSG00000227184	ENST00000525985	T	0.72505	-0.66	4.8	1.98	0.26296	.	.	.	.	.	T	0.50718	0.1632	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.45946	0.498	T	0.37888	-0.9686	9	0.35671	T	0.21	.	7.0541	0.25089	0.0834:0.0:0.6132:0.3034	.	936	E9PPU0	.	W	936	ENSP00000436337:R936W	ENSP00000436337:R936W	R	-	1	2	EPPK1	145016604	0.000000	0.05858	0.052000	0.19188	0.004000	0.04260	-0.526000	0.06207	0.223000	0.20920	-0.152000	0.13540	CGG		0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	29	0	0	0	1	0	3	29				
BTBD10	84280	broad.mit.edu	37	11	13466583	13466583	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:13466583T>C	ENST00000278174.5	-	2	334	c.89A>G	c.(88-90)tAt>tGt	p.Y30C	BTBD10_ENST00000528120.1_Intron	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	30						nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGAATGTTTATAAAGTTTACG	0.408																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(88-90)tAt>tGt		BTB (POZ) domain containing 10							146.0	149.0	148.0					11																	13466583		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13466583T>C	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.89A>G	11.37:g.13466583T>C	ENSP00000278174:p.Tyr30Cys					BTBD10_ENST00000528120.1_Intron	p.Y30C	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	2	334	-			30					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.89A>G	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	9.763	1.170693	0.21621	.	.	ENSG00000148925	ENST00000278174;ENST00000529708;ENST00000526841	T	0.28895	1.59	5.57	5.57	0.84162	.	0.196435	0.45361	D	0.000373	T	0.12689	0.0308	N	0.02539	-0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10042	-1.0647	10	0.38643	T	0.18	-8.3572	8.7032	0.34338	0.0:0.1182:0.0:0.8818	.	30	Q9BSF8	BTBDA_HUMAN	C	30	ENSP00000278174:Y30C	ENSP00000278174:Y30C	Y	-	2	0	BTBD10	13423159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.571000	0.36450	2.111000	0.64477	0.533000	0.62120	TAT		0.408	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		31	42	0	0	0	1	0	31	42				
TYW1	55253	broad.mit.edu	37	7	66660159	66660159	+	Silent	SNP	C	C	T	rs142524777		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:66660159C>T	ENST00000359626.5	+	15	1976	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	604					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.G604G(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTCCACAGGGCGTTACCTACT	0.493																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.G604G(1)	endometrium(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1810-1812)ggC>ggT		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)		C		0,4406		0,0,2203	127.0	114.0	118.0		1812	0.8	1.0	7	dbSNP_134	118	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	TYW1	NM_018264.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		604/733	66660159	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66660159C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1812C>T	7.37:g.66660159C>T							p.G604G	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			15	1976	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	604					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.1812C>T	CCDS5538.1																																																																																				0.493	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		23	67	0	0	0	1	0	23	67				
USP36	57602	broad.mit.edu	37	17	76808947	76808947	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:76808947C>T	ENST00000542802.3	-	13	1845	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	USP36_ENST00000312010.6_Missense_Mutation_p.G468R|USP36_ENST00000449938.2_Missense_Mutation_p.G168R|USP36_ENST00000588467.1_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	468					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AATACCTTTCCAGTCAGTGGG	0.537																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(1402-1404)Gga>Aga		ubiquitin specific peptidase 36							72.0	63.0	66.0					17																	76808947		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76808947C>T	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1402G>A	17.37:g.76808947C>T	ENSP00000441214:p.Gly468Arg					USP36_ENST00000588467.1_5'UTR|USP36_ENST00000542802.2_Missense_Mutation_p.G468R|USP36_ENST00000449938.2_Missense_Mutation_p.G168R	p.G468R	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		13	1726	-			468					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.1402G>A	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041093	0.35989	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802;ENST00000432878	T;T;T	0.19669	3.19;2.13;3.19	5.41	3.37	0.38596	.	0.476413	0.25405	N	0.030918	T	0.23249	0.0562	M	0.67953	2.075	0.09310	N	1	B;P	0.36330	0.413;0.548	B;B	0.40410	0.175;0.328	T	0.17198	-1.0377	10	0.51188	T	0.08	-4.2904	4.8059	0.13319	0.1733:0.6502:0.0:0.1765	.	468;468	Q9P275;Q9P275-2	UBP36_HUMAN;.	R	468;168;468;468	ENSP00000310590:G468R;ENSP00000401119:G168R;ENSP00000441214:G468R	ENSP00000310590:G468R	G	-	1	0	USP36	74320542	0.041000	0.20044	0.039000	0.18376	0.098000	0.18820	0.637000	0.24659	0.615000	0.30124	0.561000	0.74099	GGA		0.537	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		16	30	0	0	0	1	0	16	30				
UBE4B	10277	broad.mit.edu	37	1	10132224	10132224	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:10132224C>G	ENST00000253251.8	+	2	1002	c.163C>G	c.(163-165)Ctc>Gtc	p.L55V	UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000377153.1_Missense_Mutation_p.L55V|UBE4B_ENST00000343090.6_Missense_Mutation_p.L55V					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAGTCTTGGTCTCAATGTCCA	0.552																																						ENST00000343090.6																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(163-165)Ctc>Gtc		ubiquitination factor E4B							74.0	71.0	72.0					1																	10132224		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10132224C>G	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.163C>G	1.37:g.10132224C>G	ENSP00000253251:p.Leu55Val					UBE4B_ENST00000253251.8_Missense_Mutation_p.L55V|UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000377153.1_Missense_Mutation_p.L55V	p.L55V	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	2	238	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	55						Missense_Mutation	SNP	ENST00000253251.8	37	c.163C>G	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978543	0.92982	.	.	ENSG00000130939	ENST00000253251;ENST00000377153;ENST00000343090	T;T	0.60299	0.51;0.2	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	L	0.27053	0.805	0.80722	D	1	D;D	0.63880	0.993;0.974	D;D	0.70016	0.967;0.953	T	0.65154	-0.6237	10	0.39692	T	0.17	-19.0609	19.2392	0.93875	0.0:1.0:0.0:0.0	.	55;55	O95155;O95155-2	UBE4B_HUMAN;.	V	55	ENSP00000253251:L55V;ENSP00000343001:L55V	ENSP00000253251:L55V	L	+	1	0	UBE4B	10054811	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.237000	0.78164	2.544000	0.85801	0.563000	0.77884	CTC		0.552	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		7	46	0	0	0	1	0	7	46				
C11orf63	79864	broad.mit.edu	37	11	122830103	122830103	+	Missense_Mutation	SNP	G	G	A	rs146523567		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:122830103G>A	ENST00000531316.1	+	8	2379	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	C11orf63_ENST00000227349.2_Missense_Mutation_p.E763K			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	763					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAACAGACACGAAAGGGAAAA	0.418																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2287-2289)Gaa>Aaa		chromosome 11 open reading frame 63		G	LYS/GLU	0,4404		0,0,2202	92.0	85.0	87.0		2287	5.9	1.0	11	dbSNP_134	87	1,8597	1.2+/-3.3	0,1,4298	no	missense	C11orf63	NM_024806.2	56	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	763/779	122830103	1,13001	2202	4299	6501	SO:0001583	missense	79864							g.chr11:122830103G>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.2287G>A	11.37:g.122830103G>A	ENSP00000431669:p.Glu763Lys					C11orf63_ENST00000531316.1_Missense_Mutation_p.E763K	p.E763K	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	9	2584	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	763					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.2287G>A	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361319	0.95877	0.0	1.16E-4	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.61627	0.09;0.09	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.77103	2.36	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.79482	-0.1785	10	0.87932	D	0	-28.016	18.374	0.90430	0.0:0.0:1.0:0.0	.	763	Q6NUN7	CK063_HUMAN	K	763	ENSP00000227349:E763K;ENSP00000431669:E763K	ENSP00000227349:E763K	E	+	1	0	C11orf63	122335313	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.520000	0.73773	2.779000	0.95612	0.591000	0.81541	GAA		0.418	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		3	43	0	0	0	1	0	3	43				
RP1	6101	broad.mit.edu	37	8	55533698	55533698	+	Missense_Mutation	SNP	C	C	T	rs553910154		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:55533698C>T	ENST00000220676.1	+	2	320	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	58	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTCAACCCTCGCTCCTTTAA	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15139	0.0		0.0	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(172-174)Cgc>Tgc		retinitis pigmentosa 1 (autosomal dominant)							134.0	106.0	116.0					8																	55533698		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533698C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.172C>T	8.37:g.55533698C>T	ENSP00000220676:p.Arg58Cys						p.R58C	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	320	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	58			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.172C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.618990	0.87460	.	.	ENSG00000104237	ENST00000220676	D	0.94330	-3.4	5.34	5.34	0.76211	Doublecortin domain (5);	0.000000	0.64402	D	0.000015	D	0.97074	0.9044	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97713	1.0192	10	0.87932	D	0	-11.7099	15.4175	0.74983	0.1395:0.8605:0.0:0.0	.	58	P56715	RP1_HUMAN	C	58	ENSP00000220676:R58C	ENSP00000220676:R58C	R	+	1	0	RP1	55696251	0.996000	0.38824	0.907000	0.35723	0.978000	0.69477	3.131000	0.50515	2.498000	0.84270	0.650000	0.86243	CGC		0.567	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		33	133	0	0	0	1	0	33	133				
UBR4	23352	broad.mit.edu	37	1	19451155	19451155	+	Silent	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:19451155A>G	ENST00000375254.3	-	65	9495	c.9468T>C	c.(9466-9468)taT>taC	p.Y3156Y	UBR4_ENST00000375217.2_Silent_p.Y3149Y|UBR4_ENST00000375267.2_Silent_p.Y3156Y|UBR4_ENST00000375226.2_Silent_p.Y3132Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3156					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAAGCTGAGTATAGGCCTCAA	0.433																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(9466-9468)taT>taC		ubiquitin protein ligase E3 component n-recognin 4							156.0	147.0	150.0					1																	19451155		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19451155A>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9468T>C	1.37:g.19451155A>G						UBR4_ENST00000375217.2_Silent_p.Y3149Y|UBR4_ENST00000375226.2_Silent_p.Y3132Y|UBR4_ENST00000375254.3_Silent_p.Y3156Y	p.Y3156Y			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	65	9471	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3156					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.9468T>C	CCDS189.1																																																																																				0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		25	82	0	0	0	1	0	25	82				
NIPBL	25836	broad.mit.edu	37	5	36976406	36976406	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:36976406A>G	ENST00000282516.8	+	9	1896	c.1397A>G	c.(1396-1398)tAt>tGt	p.Y466C	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.Y466C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	466					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGACCTATATATGATGAAGTG	0.408																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(1396-1398)tAt>tGt		Nipped-B homolog (Drosophila)							80.0	82.0	81.0					5																	36976406		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976406A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1397A>G	5.37:g.36976406A>G	ENSP00000282516:p.Tyr466Cys					NIPBL_ENST00000448238.2_Missense_Mutation_p.Y466C|NIPBL_ENST00000504430.1_3'UTR	p.Y466C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1896	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		466					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1397A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338038	0.81911	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95756	-3.79;-3.8	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	L	0.29908	0.895	0.54753	D	0.999985	D;D	0.89917	0.999;1.0	D;D	0.83275	0.99;0.996	D	0.96059	0.9037	10	0.46703	T	0.11	.	15.7445	0.77929	1.0:0.0:0.0:0.0	.	466;466	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	C	466	ENSP00000282516:Y466C;ENSP00000406266:Y466C	ENSP00000282516:Y466C	Y	+	2	0	NIPBL	37012163	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.689000	0.68234	2.133000	0.65898	0.377000	0.23210	TAT		0.408	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		30	66	0	0	0	1	0	30	66				
HRH3	11255	broad.mit.edu	37	20	60794928	60794928	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:60794928C>A	ENST00000340177.5	-	1	383	c.99G>T	c.(97-99)tgG>tgT	p.W33C	HRH3_ENST00000317393.6_Missense_Mutation_p.W33C	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	33					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	GCACCGCGGTCCAGGCTGCCG	0.776																																						ENST00000340177.5																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(97-99)tgG>tgT		histamine receptor H3	Histamine Phosphate(DB00667)						9.0	10.0	9.0					20																	60794928		2146	4234	6380	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60794928C>A	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.99G>T	20.37:g.60794928C>A	ENSP00000342560:p.Trp33Cys					HRH3_ENST00000317393.6_Missense_Mutation_p.W33C	p.W33C	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		1	383	-	Breast(26;7.76e-09)		33					Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.99G>T	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594795	0.66219	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.37752	1.18;1.18	3.44	3.44	0.39384	.	0.664870	0.14094	U	0.341820	T	0.27098	0.0664	N	0.14661	0.345	0.58432	D	0.999995	D;D;P;D	0.57257	0.979;0.964;0.934;0.964	P;B;B;B	0.47015	0.534;0.334;0.253;0.334	T	0.03651	-1.1016	10	0.39692	T	0.17	-4.4491	11.6902	0.51510	0.0:0.8192:0.1808:0.0	.	33;33;33;33	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	C	33	ENSP00000342560:W33C;ENSP00000321482:W33C	ENSP00000321482:W33C	W	-	3	0	HRH3	60228323	0.877000	0.30153	0.998000	0.56505	0.987000	0.75469	0.394000	0.20834	1.448000	0.47680	0.462000	0.41574	TGG		0.776	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		7	5	1	0	2.7689e-08	1	2.94948e-08	7	5				
LRRIQ3	127255	broad.mit.edu	37	1	74507187	74507187	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:74507187T>C	ENST00000395089.1	-	6	1427	c.1428A>G	c.(1426-1428)aaA>aaG	p.K476K	LRRIQ3_ENST00000354431.4_Silent_p.K476K			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	476										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAATTGTCTCTTTATTTTCTT	0.338																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1426-1428)aaA>aaG		leucine-rich repeats and IQ motif containing 3							136.0	128.0	130.0					1																	74507187		1819	4081	5900	SO:0001819	synonymous_variant	127255							g.chr1:74507187T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1428A>G	1.37:g.74507187T>C						LRRIQ3_ENST00000395089.1_Silent_p.K476K	p.K476K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			7	1619	-			476					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1428A>G	CCDS41350.1																																																																																				0.338	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		36	140	0	0	0	1	0	36	140				
EP300	2033	broad.mit.edu	37	22	41553243	41553243	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr22:41553243A>G	ENST00000263253.7	+	18	4551	c.3332A>G	c.(3331-3333)tAt>tGt	p.Y1111C		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1111	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACTGGACAGTATCAGGAGCCC	0.398			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(3331-3333)tAt>tGt		E1A binding protein p300							105.0	99.0	101.0					22																	41553243		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41553243A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3332A>G	22.37:g.41553243A>G	ENSP00000263253:p.Tyr1111Cys						p.Y1111C	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			18	4551	+			1111			Bromo.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3332A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771128	0.69992	.	.	ENSG00000100393	ENST00000263253	T	0.63096	-0.02	5.7	5.7	0.88788	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.44285	D	0.000474	D	0.86239	0.5885	H	0.96604	3.85	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.90927	0.4787	10	0.87932	D	0	-5.9122	15.9756	0.80060	1.0:0.0:0.0:0.0	.	1111	Q09472	EP300_HUMAN	C	1111	ENSP00000263253:Y1111C	ENSP00000263253:Y1111C	Y	+	2	0	EP300	39883189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.171000	0.68590	0.533000	0.62120	TAT		0.398	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		24	69	0	0	0	1	0	24	69				
TBC1D3P5	440419	broad.mit.edu	37	17	25748794	25748794	+	RNA	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:25748794C>T	ENST00000586223.1	+	0	695					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GGACAGGCACCCATGGCTGTG	0.587																																						ENST00000586223.1																			0																																																			440419							g.chr17:25748794C>T			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25748794C>T								NR_033892.1						0	695	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.587	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		6	20	0	0	0	1	0	6	20				
LYZL2	119180	broad.mit.edu	37	10	30915144	30915144	+	Missense_Mutation	SNP	G	G	A	rs146282381		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:30915144G>A	ENST00000375318.2	-	3	382	c.326C>T	c.(325-327)aCg>aTg	p.T109M		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	63					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATCCAGGACCGTCTGGGCTGT	0.572																																						ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(325-327)aCg>aTg		lysozyme-like 2							142.0	107.0	119.0					10																	30915144		2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915144G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.326C>T	10.37:g.30915144G>A	ENSP00000364467:p.Thr109Met						p.T109M	NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN			3	382	-		Prostate(175;0.151)	63					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.326C>T	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	G	4.424	0.078455	0.08533	.	.	ENSG00000151033	ENST00000375318	T	0.75477	-0.94	2.27	-3.89	0.04193	.	1.007180	0.07978	N	0.985155	T	0.69043	0.3067	L	0.60455	1.87	0.09310	N	1	P	0.44776	0.843	P	0.44990	0.466	T	0.63097	-0.6713	10	0.87932	D	0	-11.7449	5.3713	0.16140	0.0:0.3266:0.2688:0.4046	.	109	Q7Z4W2-2	.	M	109	ENSP00000364467:T109M	ENSP00000364467:T109M	T	-	2	0	LYZL2	30955150	0.000000	0.05858	0.000000	0.03702	0.308000	0.27856	-1.374000	0.02566	-0.881000	0.03992	-1.210000	0.01631	ACG		0.572	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		21	57	0	0	0	1	0	21	57				
OR51G1	79324	broad.mit.edu	37	11	4944789	4944789	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:4944789A>G	ENST00000321961.2	-	1	848	c.781T>C	c.(781-783)Tct>Cct	p.S261P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCACAAGAGACAAGCCAATC	0.522																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(781-783)Tct>Cct		olfactory receptor, family 51, subfamily G, member 1							187.0	145.0	159.0					11																	4944789		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944789A>G	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.781T>C	11.37:g.4944789A>G	ENSP00000322546:p.Ser261Pro					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.S261P	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	848	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	261					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.781T>C	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833978	0.32421	.	.	ENSG00000176879	ENST00000321961	T	0.00130	8.69	4.53	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001509	T	0.00580	0.0019	M	0.92268	3.29	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.16928	-1.0386	10	0.87932	D	0	.	10.3137	0.43723	0.8353:0.1647:0.0:0.0	.	261	Q8NGK1	O51G1_HUMAN	P	261	ENSP00000322546:S261P	ENSP00000322546:S261P	S	-	1	0	OR51G1	4901365	0.000000	0.05858	0.962000	0.40283	0.048000	0.14542	0.388000	0.20735	1.911000	0.55334	0.455000	0.32223	TCT		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		6	57	0	0	0	1	0	6	57				
IRGQ	126298	broad.mit.edu	37	19	44097187	44097187	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:44097187G>A	ENST00000602269.1	-	2	1048	c.863C>T	c.(862-864)gCg>gTg	p.A288V	IRGQ_ENST00000601520.1_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.A288V|L34079.2_ENST00000594374.1_Missense_Mutation_p.A1V			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	288	IRG-type G.|Poly-Ala.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGCGGCGGCCGCGGTGGTGGC	0.697																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(862-864)gCg>gTg		immunity-related GTPase family, Q							28.0	28.0	28.0					19																	44097187		2202	4299	6501	SO:0001583	missense	126298						protein binding	g.chr19:44097187G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.863C>T	19.37:g.44097187G>A	ENSP00000472250:p.Ala288Val					IRGQ_ENST00000602269.1_Missense_Mutation_p.A288V|L34079.2_ENST00000594374.1_Missense_Mutation_p.A1V	p.A288V	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1018	-		Prostate(69;0.0199)	288			Poly-Ala.		B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.863C>T	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.253578	0.01457	.	.	ENSG00000167378	ENST00000422989	T	0.44482	0.92	1.9	1.9	0.25705	.	27.028000	0.01458	U	0.015756	T	0.22820	0.0551	N	0.08118	0	0.09310	N	1	B	0.33637	0.42	B	0.20184	0.028	T	0.22626	-1.0211	10	0.42905	T	0.14	.	7.2969	0.26397	0.0:0.0:1.0:0.0	.	288	Q8WZA9	IRGQ_HUMAN	V	288	ENSP00000387535:A288V	ENSP00000387535:A288V	A	-	2	0	IRGQ	48789027	0.015000	0.18098	0.001000	0.08648	0.001000	0.01503	2.105000	0.41825	1.373000	0.46208	0.467000	0.42956	GCG		0.697	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		9	23	0	0	0	1	0	9	23				
GLYATL2	219970	broad.mit.edu	37	11	58602255	58602255	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:58602255C>T	ENST00000287275.1	-	6	922	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	GLYATL2_ENST00000532258.1_Missense_Mutation_p.E178K|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	178						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCCCAGTGTTCATTCACAAGA	0.413																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(532-534)Gaa>Aaa		glycine-N-acyltransferase-like 2	Glycine(DB00145)						47.0	47.0	47.0					11																	58602255		2050	4212	6262	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58602255C>T	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.532G>A	11.37:g.58602255C>T	ENSP00000287275:p.Glu178Lys					GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.E178K	p.E178K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			6	922	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	178					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.532G>A	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	C	7.651	0.682946	0.14907	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.19669	2.13;2.13	4.19	-2.49	0.06403	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.506415	0.18543	U	0.138122	T	0.07458	0.0188	N	0.05414	-0.055	0.09310	N	1	B	0.24651	0.108	B	0.23716	0.048	T	0.40365	-0.9567	10	0.08381	T	0.77	.	8.7296	0.34491	0.0:0.4019:0.0:0.5981	.	178	Q8WU03	GLYL2_HUMAN	K	178	ENSP00000287275:E178K;ENSP00000434277:E178K	ENSP00000287275:E178K	E	-	1	0	GLYATL2	58358831	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.786000	0.04623	-0.527000	0.06374	0.573000	0.79308	GAA		0.413	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		16	15	0	0	0	1	0	16	15				
TMEM79	84283	broad.mit.edu	37	1	156255506	156255506	+	Silent	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:156255506G>T	ENST00000405535.2	+	2	660	c.489G>T	c.(487-489)cgG>cgT	p.R163R	TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000495881.1_3'UTR|SMG5_ENST00000368267.5_5'Flank|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000295694.5_Silent_p.R163R	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	163					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGCCCCCCCGGGTCACCCACC	0.657																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(487-489)cgG>cgT		transmembrane protein 79							36.0	41.0	39.0					1																	156255506		2203	4299	6502	SO:0001819	synonymous_variant	84283					integral to membrane		g.chr1:156255506G>T	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.489G>T	1.37:g.156255506G>T						TMEM79_ENST00000295694.5_Silent_p.R163R|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron	p.R163R	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			2	660	+	Hepatocellular(266;0.158)		163					B2RE22|D3DVB8	Silent	SNP	ENST00000405535.2	37	c.489G>T	CCDS1138.1																																																																																				0.657	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		10	36	1	0	0.00829132	1	0.00834811	10	36				
MYH2	4620	broad.mit.edu	37	17	10436835	10436835	+	Silent	SNP	C	C	T	rs79757188	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:10436835C>T	ENST00000245503.5	-	20	2679	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.G765G|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	765	Actin-binding. {ECO:0000250}.|Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTGGTGTGCCCAAATTTAT	0.423													C|||	12	0.00239617	0.0091	0.0	5008	,	,		19032	0.0		0.0	False		,,,				2504	0.0					ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2293-2295)ggG>ggA		myosin, heavy chain 2, skeletal muscle, adult		C	,	35,4371	40.0+/-72.8	0,35,2168	163.0	155.0	158.0		2295,2295	-1.9	1.0	17	dbSNP_132	158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,36,6467	TT,TC,CC		0.0116,0.7944,0.2768	,	765/1942,765/1942	10436835	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10436835C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2295G>A	17.37:g.10436835C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.G765G|MYH2_ENST00000532183.1_Intron	p.G765G	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			20	2679	-			765			Actin-binding (By similarity).|Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.2295G>A	CCDS11156.1																																																																																				0.423	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		97	77	0	0	0	1	0	97	77				
EIF2AK4	440275	broad.mit.edu	37	15	40231714	40231714	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:40231714G>T	ENST00000263791.5	+	2	196	c.153G>T	c.(151-153)gaG>gaT	p.E51D	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E51D|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E51D|EIF2AK4_ENST00000560648.1_Missense_Mutation_p.E51D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	51	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGTCAAAGAGCCCCCTGAAA	0.338																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(151-153)gaG>gaT		eukaryotic translation initiation factor 2 alpha kinase 4							90.0	82.0	84.0					15																	40231714		1795	4063	5858	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40231714G>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.153G>T	15.37:g.40231714G>T	ENSP00000263791:p.Glu51Asp					EIF2AK4_ENST00000560648.1_Missense_Mutation_p.E51D|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E51D|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E51D	p.E51D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	2	196	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	51			RWD.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.153G>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570221	0.45798	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.22134	1.97;1.97	5.7	3.81	0.43845	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.298029	0.36482	N	0.002566	T	0.16300	0.0392	L	0.37630	1.12	0.31006	N	0.719789	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.10268	-1.0637	10	0.25106	T	0.35	-4.9193	11.5418	0.50672	0.1486:0.0:0.8514:0.0	.	51;51	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	D	51	ENSP00000263791:E51D;ENSP00000372174:E51D	ENSP00000263791:E51D	E	+	3	2	EIF2AK4	38019006	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.857000	0.27831	0.734000	0.32515	0.655000	0.94253	GAG		0.338	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			22	52	1	0	8.04996e-18	1	8.96473e-18	22	52				
NEDD4	4734	broad.mit.edu	37	15	56140620	56140620	+	Silent	SNP	T	T	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:56140620T>G	ENST00000508342.1	-	13	3048	c.2749A>C	c.(2749-2751)Aga>Cga	p.R917R	NEDD4_ENST00000506154.1_Silent_p.R901R|NEDD4_ENST00000338963.2_Silent_p.R845R|NEDD4_ENST00000435532.3_Silent_p.R498R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	917	Mediates interaction with TNIK. {ECO:0000250}.|WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATTGTGTTCTTTTTATATCT	0.383																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2749-2751)Aga>Cga		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							165.0	153.0	157.0					15																	56140620		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56140620T>G	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2749A>C	15.37:g.56140620T>G						NEDD4_ENST00000435532.3_Silent_p.R498R|NEDD4_ENST00000506154.1_Silent_p.R901R|NEDD4_ENST00000338963.2_Silent_p.R845R	p.R917R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	13	3048	-			917			Mediates interaction with TNIK (By similarity).|WW 4.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.2749A>C		.	.	.	.	.	.	.	.	.	.	T	9.723	1.160270	0.21454	.	.	ENSG00000069869	ENST00000508871	D	0.83914	-1.78	5.76	4.62	0.57501	.	.	.	.	.	D	0.87589	0.6215	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87679	0.2546	6	0.87932	D	0	.	11.1305	0.48343	0.0:0.0:0.2956:0.7044	.	.	.	.	N	507	ENSP00000422455:K507N	ENSP00000422455:K507N	K	-	3	2	NEDD4	53927912	0.992000	0.36948	0.927000	0.36925	0.985000	0.73830	3.132000	0.50523	0.979000	0.38497	0.533000	0.62120	AAA		0.383	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		10	131	0	0	0	1	0	10	131				
MUC5B	727897	broad.mit.edu	37	11	1271400	1271400	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:1271400G>A	ENST00000529681.1	+	31	13348	c.13290G>A	c.(13288-13290)acG>acA	p.T4430T	MUC5B_ENST00000447027.1_Silent_p.T4433T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4430	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACTGCGTCCA	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13297-13299)acG>acA		mucin 5B, oligomeric mucus/gel-forming							121.0	145.0	137.0					11																	1271400		2081	4204	6285	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271400G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13290G>A	11.37:g.1271400G>A						MUC5B_ENST00000529681.1_Silent_p.T4430T	p.T4433T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13357	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4430			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.13299G>A	CCDS44515.2																																																																																				0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		127	159	0	0	0	1	0	127	159				
SLC4A4	8671	broad.mit.edu	37	4	72399991	72399991	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:72399991C>A	ENST00000264485.5	+	18	2445	c.2328C>A	c.(2326-2328)aaC>aaA	p.N776K	SLC4A4_ENST00000340595.3_Missense_Mutation_p.N732K|SLC4A4_ENST00000425175.1_Missense_Mutation_p.N776K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.N776K	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	776	Interaction with CA4.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTGGAGAAAACCCCTGGTGGG	0.418																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2194-2196)aaC>aaA		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							77.0	76.0	76.0					4																	72399991		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72399991C>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2328C>A	4.37:g.72399991C>A	ENSP00000264485:p.Asn776Lys					SLC4A4_ENST00000425175.1_Missense_Mutation_p.N776K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.N776K|SLC4A4_ENST00000264485.5_Missense_Mutation_p.N776K	p.N732K	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		15	2392	+			776					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2196C>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233865	0.79688	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.49	2.84	0.33178	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.78223	2.4	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.984;0.999;0.999	D	0.84641	0.0695	10	0.51188	T	0.08	.	9.9281	0.41505	0.0:0.7826:0.0:0.2174	.	776;776;732;776	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	K	776;776;776;732	ENSP00000264485:N776K;ENSP00000393557:N776K;ENSP00000307349:N776K;ENSP00000344272:N732K	ENSP00000264485:N776K	N	+	3	2	SLC4A4	72618855	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.727000	0.47311	0.692000	0.31613	0.650000	0.86243	AAC		0.418	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		33	68	1	0	1.61788e-16	1	1.78818e-16	33	68				
VPS13B	157680	broad.mit.edu	37	8	100443876	100443876	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:100443876A>T	ENST00000358544.2	+	22	3305	c.3194A>T	c.(3193-3195)aAg>aTg	p.K1065M	VPS13B_ENST00000395996.1_Missense_Mutation_p.K1065M|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1065M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1065					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATGCAGTGAAGCATCTCACA	0.303																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3193-3195)aAg>aTg		vacuolar protein sorting 13 homolog B (yeast)							68.0	72.0	71.0					8																	100443876		2202	4300	6502	SO:0001583	missense	157680				protein transport			g.chr8:100443876A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3194A>T	8.37:g.100443876A>T	ENSP00000351346:p.Lys1065Met					VPS13B_ENST00000358544.2_Missense_Mutation_p.K1065M|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1065M	p.K1065M			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		22	3305	+	Breast(36;3.73e-07)		1065					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3194A>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927392	0.73327	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.36157	1.27;1.27;1.27	4.41	4.41	0.53225	.	0.056215	0.64402	D	0.000003	T	0.45418	0.1341	N	0.24115	0.695	0.51482	D	0.999929	P;P;D;P	0.76494	0.954;0.811;0.999;0.954	P;B;D;P	0.81914	0.461;0.284;0.995;0.792	T	0.50676	-0.8800	10	0.87932	D	0	.	13.9408	0.64054	1.0:0.0:0.0:0.0	.	1064;1065;1065;1065	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	M	1065	ENSP00000349685:K1065M;ENSP00000351346:K1065M;ENSP00000379318:K1065M	ENSP00000349685:K1065M	K	+	2	0	VPS13B	100513052	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.278000	0.89899	1.749000	0.51849	0.454000	0.30748	AAG		0.303	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		15	64	0	0	0	1	0	15	64				
EPHB3	2049	broad.mit.edu	37	3	184296225	184296225	+	Missense_Mutation	SNP	C	C	T	rs376314906		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:184296225C>T	ENST00000330394.2	+	9	2224	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	591					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGCTCTGATTCGGAGTACACG	0.627																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1771-1773)tCg>tTg		EPH receptor B3		C	LEU/SER	0,4406		0,0,2203	120.0	113.0	116.0		1772	5.2	0.1	3		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHB3	NM_004443.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	591/999	184296225	1,13005	2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184296225C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1772C>T	3.37:g.184296225C>T	ENSP00000332118:p.Ser591Leu					EIF2B5_ENST00000444495.1_Intron	p.S591L	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		9	2224	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		591					Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1772C>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445139	0.43429	0.0	1.16E-4	ENSG00000182580	ENST00000330394	T	0.10763	2.84	5.21	5.21	0.72293	.	0.234784	0.37178	N	0.002201	T	0.10680	0.0261	L	0.28458	0.855	0.24681	N	0.993365	B	0.06786	0.001	B	0.04013	0.001	T	0.14980	-1.0453	10	0.45353	T	0.12	.	17.3283	0.87256	0.0:1.0:0.0:0.0	.	591	P54753	EPHB3_HUMAN	L	591	ENSP00000332118:S591L	ENSP00000332118:S591L	S	+	2	0	EPHB3	185778919	0.104000	0.21937	0.090000	0.20809	0.942000	0.58702	3.270000	0.51600	2.436000	0.82500	0.551000	0.68910	TCG		0.627	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		29	68	0	0	0	1	0	29	68				
HUWE1	10075	broad.mit.edu	37	X	53560975	53560975	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:53560975G>A	ENST00000342160.3	-	82	13472	c.13015C>T	c.(13015-13017)Cac>Tac	p.H4339Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.H4339Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4339	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACCATGTGTGAGCTGAAGGC	0.483																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(13015-13017)Cac>Tac		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							148.0	116.0	127.0					X																	53560975		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53560975G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13015C>T	X.37:g.53560975G>A	ENSP00000340648:p.His4339Tyr					HUWE1_ENST00000262854.6_Missense_Mutation_p.H4339Y	p.H4339Y			Q7Z6Z7	HUWE1_HUMAN			82	13472	-			4339			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.13015C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.56|12.56	1.975881|1.975881	0.34848|0.34848	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.60424|.	0.19;0.19|.	5.42|5.42	5.42|5.42	0.78866|0.78866	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87059|0.87059	0.6083|0.6083	H|H	0.94462|0.94462	3.54|3.54	0.80722|0.80722	D|D	1|1	P;P|.	0.48503|.	0.911;0.891|.	P;P|.	0.61533|.	0.89;0.825|.	D|D	0.90658|0.90658	0.4588|0.4588	10|5	0.87932|.	D|.	0|.	.|.	17.2866|17.2866	0.87143|0.87143	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4339;4323|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Y|L	4339|3372;1161	ENSP00000340648:H4339Y;ENSP00000262854:H4339Y|.	ENSP00000262854:H4339Y|.	H|S	-|-	1|2	0|0	HUWE1|HUWE1	53577700|53577700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	8.879000|8.879000	0.92398|0.92398	2.436000|2.436000	0.82500|0.82500	0.529000|0.529000	0.55759|0.55759	CAC|TCA		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		24	39	0	0	0	1	0	24	39				
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T	rs201509113	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6514-6516)Ggt>Agt		mucin 4, cell surface associated							12.0	15.0	14.0					3																	195511937		652	1533	2185	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511937C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6514G>A	3.37:g.195511937C>T	ENSP00000417498:p.Gly2172Ser					MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.G2172S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6973	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	951					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6514G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	7.497	0.651958	0.14516	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28666	1.6;1.67	.	.	.	.	.	.	.	.	T	0.29976	0.0750	N	0.19112	0.55	0.09310	N	0.999998	D	0.56746	0.977	D	0.63488	0.915	T	0.11084	-1.0602	7	.	.	.	.	3.4513	0.07499	0.4478:0.552:1.0E-4:1.0E-4	.	2172	E7ESK3	.	S	2172	ENSP00000417498:G2172S;ENSP00000420243:G2172S	.	G	-	1	0	MUC4	196996332	0.229000	0.23729	0.002000	0.10522	0.068000	0.16541	1.016000	0.29976	0.488000	0.27723	0.064000	0.15345	GGT		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	4	0	0	0	1	0	4	4				
YLPM1	56252	broad.mit.edu	37	14	75283661	75283661	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr14:75283661A>G	ENST00000552421.1	+	13	3719	c.3595A>G	c.(3595-3597)Atg>Gtg	p.M1199V	YLPM1_ENST00000238571.3_Missense_Mutation_p.M1670V|YLPM1_ENST00000325680.7_Missense_Mutation_p.M1905V			P49750	YLPM1_HUMAN	YLP motif containing 1	1710	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGAAGCTGAGATGGAGGAGAC	0.398																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(5713-5715)Atg>Gtg		YLP motif containing 1							79.0	73.0	75.0					14																	75283661		1869	4099	5968	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75283661A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3595A>G	14.37:g.75283661A>G	ENSP00000447921:p.Met1199Val					YLPM1_ENST00000552421.1_Missense_Mutation_p.M1199V|YLPM1_ENST00000238571.3_Missense_Mutation_p.M1670V	p.M1905V	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	14	5837	+			1710			Involved in interaction with PPP1CA (By similarity).		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5713A>G		.	.	.	.	.	.	.	.	.	.	A	17.81	3.479975	0.63849	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.37584	1.19;1.19;1.19	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.71581	2.175	0.80722	D	1	B;B	0.32128	0.32;0.357	B;B	0.43445	0.42;0.274	T	0.51092	-0.8749	10	0.56958	D	0.05	-8.2747	16.5446	0.84426	1.0:0.0:0.0:0.0	.	1710;1905	P49750-3;P49750-4	.;.	V	1199;1905;1670;1618;314	ENSP00000447921:M1199V;ENSP00000324463:M1905V;ENSP00000448367:M314V	ENSP00000238571:M1670V	M	+	1	0	YLPM1	74353414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	ATG		0.398	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		9	36	0	0	0	1	0	9	36				
TRPC4AP	26133	broad.mit.edu	37	20	33588792	33588792	+	IGR	SNP	C	C	T	rs147239130	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:33588792C>T	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Splice_Site_p.A1811V			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCCCAACAGGCGGCCATGATG	0.632													C|||	11	0.00219649	0.003	0.0	5008	,	,		18919	0.0069		0.0	False		,,,				2504	0.0					ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.e39-1		myosin, heavy chain 7B, cardiac muscle, beta		C	VAL/ALA	18,4380	25.3+/-52.1	0,18,2181	58.0	74.0	69.0		5432	4.6	0.9	20	dbSNP_134	69	0,8592		0,0,4296	yes	missense-near-splice	MYH7B	NM_020884.3	64	0,18,6477	TT,TC,CC		0.0,0.4093,0.1386	probably-damaging	1811/1984	33588792	18,12972	2199	4296	6495	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588792C>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33588792C>T							p.A1811_splice	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		39	5524	+			1769					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Splice_Site	SNP	ENST00000252015.2	37	c.5430_splice	CCDS13246.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	4	0.006993006993006993	0	0.0	C	13.70	2.313961	0.40996	0.004093	0.0	ENSG00000078814	ENST00000262873	T	0.78707	-1.2	4.55	4.55	0.56014	Myosin tail (1);	0.000000	0.37669	N	0.001989	T	0.71400	0.3335	M	0.73430	2.235	0.80722	D	1	B	0.29115	0.233	B	0.22601	0.04	T	0.76932	-0.2776	10	0.54805	T	0.06	.	17.5042	0.87740	0.0:1.0:0.0:0.0	.	1769	A7E2Y1	MYH7B_HUMAN	V	1811	ENSP00000262873:A1811V	ENSP00000262873:A1811V	A	+	2	0	MYH7B	33052453	1.000000	0.71417	0.905000	0.35620	0.020000	0.10135	7.647000	0.83462	2.368000	0.80403	0.462000	0.41574	GCG		0.632	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		29	96	0	0	0	1	0	29	96				
OPRK1	4986	broad.mit.edu	37	8	54142384	54142384	+	Missense_Mutation	SNP	C	C	T	rs370616732		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:54142384C>T	ENST00000265572.3	-	4	913	c.616G>A	c.(616-618)Gat>Aat	p.D206N	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.D206N|OPRK1_ENST00000524278.1_Missense_Mutation_p.D117N	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	206					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCAATGACATCGACGTCTGGA	0.423																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(616-618)Gat>Aat		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	43.0	47.0	46.0		616	5.7	0.4	8		46	0,8600		0,0,4300	no	missense	OPRK1	NM_000912.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	206/381	54142384	1,13005	2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142384C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.616G>A	8.37:g.54142384C>T	ENSP00000265572:p.Asp206Asn					RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.D117N|OPRK1_ENST00000520287.1_Missense_Mutation_p.D206N	p.D206N	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			4	913	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	206					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.616G>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	6.873	0.530469	0.13127	2.27E-4	0.0	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.35605	1.3;1.3;1.3	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.430200	0.23881	N	0.043658	T	0.21103	0.0508	N	0.03281	-0.365	0.27456	N	0.953299	B	0.10296	0.003	B	0.13407	0.009	T	0.12319	-1.0552	10	0.35671	T	0.21	.	18.0156	0.89239	0.0:1.0:0.0:0.0	.	206	P41145	OPRK_HUMAN	N	206;117;206;192	ENSP00000265572:D206N;ENSP00000430923:D117N;ENSP00000429706:D206N	ENSP00000265572:D206N	D	-	1	0	OPRK1	54304937	0.439000	0.25610	0.394000	0.26270	0.007000	0.05969	2.917000	0.48821	2.693000	0.91896	0.650000	0.86243	GAT		0.423	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			9	45	0	0	0	1	0	9	45				
EYA1	2138	broad.mit.edu	37	8	72234072	72234072	+	Silent	SNP	A	A	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:72234072A>C	ENST00000340726.3	-	6	954	c.315T>G	c.(313-315)acT>acG	p.T105T	EYA1_ENST00000388741.2_Silent_p.T71T|EYA1_ENST00000388742.4_Silent_p.T105T|EYA1_ENST00000419131.1_Silent_p.T105T|EYA1_ENST00000388743.2_Silent_p.T104T|EYA1_ENST00000388740.3_Silent_p.T72T|EYA1_ENST00000303824.7_Silent_p.T104T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	105					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATGCAGCCATAGTTTGTGAGG	0.463																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(313-315)acT>acG		eyes absent homolog 1 (Drosophila)							191.0	166.0	174.0					8																	72234072		2203	4300	6503	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72234072A>C	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.315T>G	8.37:g.72234072A>C						EYA1_ENST00000388741.2_Silent_p.T71T|EYA1_ENST00000419131.1_Silent_p.T105T|EYA1_ENST00000388740.3_Silent_p.T72T|EYA1_ENST00000388743.2_Silent_p.T104T|EYA1_ENST00000388742.4_Silent_p.T105T|EYA1_ENST00000303824.7_Silent_p.T104T	p.T105T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		6	954	-	Breast(64;0.046)		105					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.315T>G	CCDS34906.1																																																																																				0.463	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		37	109	0	0	0	1	0	37	109				
GPAM	57678	broad.mit.edu	37	10	113921438	113921438	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:113921438T>C	ENST00000348367.4	-	15	1678	c.1481A>G	c.(1480-1482)tAc>tGc	p.Y494C	GPAM_ENST00000423155.1_Missense_Mutation_p.Y494C|GPAM_ENST00000369425.1_Missense_Mutation_p.Y494C			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	494					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CCTGTGTCTGTAGAGGAGCAG	0.463																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1480-1482)tAc>tGc		glycerol-3-phosphate acyltransferase, mitochondrial							95.0	79.0	84.0					10																	113921438		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113921438T>C	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1481A>G	10.37:g.113921438T>C	ENSP00000265276:p.Tyr494Cys					GPAM_ENST00000369425.1_Missense_Mutation_p.Y494C|GPAM_ENST00000423155.1_Missense_Mutation_p.Y494C	p.Y494C			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	15	1678	-			494					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.1481A>G	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028855	0.75504	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.68903	-0.36;-0.36;-0.36	5.38	5.38	0.77491	.	0.066771	0.64402	D	0.000007	T	0.79724	0.4495	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.81167	-0.1056	10	0.56958	D	0.05	-16.2689	13.9679	0.64221	0.0:0.0:0.0:1.0	.	494;494	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	C	494	ENSP00000265276:Y494C;ENSP00000409242:Y494C;ENSP00000358433:Y494C	ENSP00000265276:Y494C	Y	-	2	0	GPAM	113911428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.460000	0.80816	2.047000	0.60756	0.523000	0.50628	TAC		0.463	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		14	32	0	0	0	1	0	14	32				
COCH	1690	broad.mit.edu	37	14	31355514	31355514	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr14:31355514T>C	ENST00000396618.3	+	11	1529	c.1473T>C	c.(1471-1473)gaT>gaC	p.D491D	COCH_ENST00000382493.4_Silent_p.D342D|COCH_ENST00000475087.1_Silent_p.D491D|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000460581.2_Silent_p.D379D|COCH_ENST00000216361.4_Silent_p.D491D	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	491	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTGCACATGATGCAGGTAAGG	0.408																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(1135-1137)gaT>gaC		cochlin							43.0	45.0	44.0					14																	31355514		2202	4300	6502	SO:0001819	synonymous_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355514T>C		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1473T>C	14.37:g.31355514T>C						RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Silent_p.D491D|COCH_ENST00000475087.1_Silent_p.D491D|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000216361.4_Silent_p.D491D|COCH_ENST00000382493.4_Silent_p.D342D	p.D379D			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	9	1683	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		491			VWFA 2.		A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	37	c.1137T>C	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116731	0.37339	.	.	ENSG00000100473	ENST00000468826	.	.	.	5.89	0.763	0.18459	.	.	.	.	.	T	0.40347	0.1113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26985	-1.0087	4	.	.	.	-22.514	0.6827	0.00878	0.2887:0.1728:0.1099:0.4286	.	.	.	.	T	375	.	.	M	+	2	0	COCH	30425265	0.906000	0.30813	1.000000	0.80357	0.971000	0.66376	0.028000	0.13644	0.491000	0.27793	-0.380000	0.06706	ATG		0.408	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		39	51	0	0	0	1	0	39	51				
SYDE1	85360	broad.mit.edu	37	19	15220102	15220102	+	Silent	SNP	C	C	T	rs377224290		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:15220102C>T	ENST00000342784.2	+	2	355	c.324C>T	c.(322-324)ggC>ggT	p.G108G	SYDE1_ENST00000600440.1_Silent_p.G41G|SYDE1_ENST00000600252.1_5'UTR	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	108	Pro-rich.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AGCCCGCCGGCGAGATCTGGT	0.692																																						ENST00000342784.2																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(322-324)ggC>ggT		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							28.0	29.0	29.0					19																	15220102		2201	4298	6499	SO:0001819	synonymous_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15220102C>T	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.324C>T	19.37:g.15220102C>T						SYDE1_ENST00000600440.1_Silent_p.G41G|SYDE1_ENST00000600252.1_5'UTR	p.G108G	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN			2	355	+			108			Pro-rich.		Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	37	c.324C>T	CCDS12324.1																																																																																				0.692	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		13	13	0	0	0	1	0	13	13				
DYNC1I1	1780	broad.mit.edu	37	7	95457426	95457426	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:95457426T>C	ENST00000324972.6	+	5	616	c.423T>C	c.(421-423)ctT>ctC	p.L141L	DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000447467.2_Silent_p.L124L|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000457059.1_Silent_p.L124L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	141					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACTCAGAACTTGGGTATATGT	0.438																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(421-423)ctT>ctC		dynein, cytoplasmic 1, intermediate chain 1							271.0	264.0	266.0					7																	95457426		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95457426T>C	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.423T>C	7.37:g.95457426T>C						DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000457059.1_Silent_p.L124L|DYNC1I1_ENST00000447467.2_Silent_p.L124L|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000537881.1_Intron	p.L141L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		5	616	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		141					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.423T>C	CCDS5644.1																																																																																				0.438	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		64	141	0	0	0	1	0	64	141				
SMAD4	4089	broad.mit.edu	37	18	48584569	48584569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr18:48584569C>T	ENST00000342988.3	+	6	1280	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q248*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	248					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.Q248*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGCCAGGACAGCAGCAGAA	0.438																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(36)|p.?(2)|p.Q248*(1)	pancreas(27)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(742-744)Cag>Tag		SMAD family member 4							97.0	91.0	93.0					18																	48584569		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584569C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.742C>T	18.37:g.48584569C>T	ENSP00000341551:p.Gln248*					SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q248*|SMAD4_ENST00000588745.1_Intron	p.Q248*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	6	1280	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	248					A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.742C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	39	7.339122	0.98221	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.76	5.76	0.90799	.	0.469570	0.25130	N	0.032920	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	12.7636	0.57378	0.1636:0.8363:0.0:0.0	.	.	.	.	X	248	.	ENSP00000341551:Q248X	Q	+	1	0	SMAD4	46838567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.676000	0.25247	2.882000	0.98803	0.655000	0.94253	CAG		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		18	29	0	0	0	1	0	18	29				
HLA-C	3107	broad.mit.edu	37	6	31238165	31238165	+	Silent	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr6:31238165C>A	ENST00000376228.5	-	4	731	c.717G>T	c.(715-717)ctG>ctT	p.L239L	HLA-C_ENST00000383329.3_Silent_p.L239L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	239	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCTGCCAGGTCAGTGTGATCT	0.637																																						ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(715-717)ctG>ctT		major histocompatibility complex, class I, C							40.0	40.0	40.0					6																	31238165		2203	4289	6492	SO:0001819	synonymous_variant	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31238165C>A	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.717G>T	6.37:g.31238165C>A						HLA-C_ENST00000376228.5_Silent_p.L239L	p.L239L			Q9TNN7	1C05_HUMAN			4	731	-			239			Alpha-3.|Ig-like C1-type.		O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	c.717G>T	CCDS34393.1																																																																																				0.637	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		7	23	1	0	1.56452e-12	1	1.70359e-12	7	23				
KIF3C	3797	broad.mit.edu	37	2	26204611	26204611	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:26204611G>A	ENST00000264712.3	-	1	755	c.176C>T	c.(175-177)aCc>aTc	p.T59I	KIF3C_ENST00000405914.1_Missense_Mutation_p.T59I	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGTCAAAGGTGAAGGTCTT	0.632																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(175-177)aCc>aTc		kinesin family member 3C							81.0	86.0	84.0					2																	26204611		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204611G>A		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.176C>T	2.37:g.26204611G>A	ENSP00000264712:p.Thr59Ile					KIF3C_ENST00000405914.1_Missense_Mutation_p.T59I	p.T59I	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	755	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		59			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.176C>T	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730518	0.69074	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	T;T	0.76060	-0.99;-0.99	5.45	4.56	0.56223	Kinesin, motor domain (4);	0.047201	0.85682	D	0.000000	D	0.88998	0.6590	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.87578	0.947;0.998	D	0.91235	0.5017	10	0.72032	D	0.01	.	13.3219	0.60438	0.0:0.0:0.8406:0.1594	.	59;59	B7ZM25;O14782	.;KIF3C_HUMAN	I	59	ENSP00000264712:T59I;ENSP00000385030:T59I	ENSP00000264712:T59I	T	-	2	0	KIF3C	26058115	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	9.686000	0.98664	1.267000	0.44247	0.563000	0.77884	ACC		0.632	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			27	72	0	0	0	1	0	27	72				
CDK5R1	8851	broad.mit.edu	37	17	30814693	30814693	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:30814693G>A	ENST00000313401.3	+	2	744	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	19					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GCTGTTTGAGGATGGCGCGGC	0.672																																						ENST00000313401.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(55-57)Gat>Aat		cyclin-dependent kinase 5, regulatory subunit 1 (p35)							50.0	45.0	47.0					17																	30814693		2203	4300	6503	SO:0001583	missense	8851				axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	g.chr17:30814693G>A	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.55G>A	17.37:g.30814693G>A	ENSP00000318486:p.Asp19Asn						p.D19N	NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)		2	744	+		Breast(31;0.159)|Ovarian(249;0.182)	19					E1P664|Q5U0G3	Missense_Mutation	SNP	ENST00000313401.3	37	c.55G>A	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	g	32	5.106477	0.94292	.	.	ENSG00000176749	ENST00000313401	T	0.77620	-1.11	5.23	5.23	0.72850	.	0.062740	0.64402	D	0.000005	T	0.79347	0.4430	M	0.62723	1.935	0.48040	D	0.999575	B	0.31949	0.348	B	0.40256	0.324	T	0.77062	-0.2727	10	0.33940	T	0.23	-5.12	16.311	0.82872	0.0:0.0:1.0:0.0	.	19	Q15078	CD5R1_HUMAN	N	19	ENSP00000318486:D19N	ENSP00000318486:D19N	D	+	1	0	CDK5R1	27838806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.963000	0.63694	2.443000	0.82685	0.450000	0.29827	GAT		0.672	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		11	37	0	0	0	1	0	11	37				
UBN2	254048	broad.mit.edu	37	7	138943235	138943235	+	Splice_Site	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:138943235A>G	ENST00000473989.3	+	4	665	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	UBN2_ENST00000288561.8_Splice_Site_p.Y139C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	222						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTAATCTAGTATGATGAATTA	0.358																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.e4-1		ubinuclein 2							79.0	72.0	74.0					7																	138943235		1814	4078	5892	SO:0001630	splice_region_variant	254048							g.chr7:138943235A>G	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.664-1A>G	7.37:g.138943235A>G						UBN2_ENST00000473989.2_Splice_Site_p.Y222_splice	p.Y139_splice	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			4	665	+			222					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Splice_Site	SNP	ENST00000473989.3	37	c.414_splice	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543795	0.65198	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T	0.49432	0.82;0.78	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66492	-0.5910	10	0.46703	T	0.11	-10.0216	15.4858	0.75564	1.0:0.0:0.0:0.0	.	222	Q6ZU65	UBN2_HUMAN	C	45;222;139	ENSP00000418648:Y222C;ENSP00000288561:Y139C	ENSP00000288561:Y139C	Y	+	2	0	UBN2	138593775	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	9.193000	0.94954	2.124000	0.65301	0.377000	0.23210	TAT		0.358	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	Missense_Mutation	33	77	0	0	0	1	0	33	77				
NCOA4	8031	broad.mit.edu	37	10	51580580	51580580	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:51580580A>G	ENST00000443446.1	+	3	395	c.166A>G	c.(166-168)Ata>Gta	p.I56V	NCOA4_ENST00000430396.2_5'UTR|NCOA4_ENST00000438493.1_Missense_Mutation_p.I72V|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374082.1_Missense_Mutation_p.I56V|NCOA4_ENST00000452682.1_Missense_Mutation_p.I72V|NCOA4_ENST00000374087.4_Missense_Mutation_p.I56V|NCOA4_ENST00000344348.6_Missense_Mutation_p.I56V	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	56					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCACAGTTGCATAAGCCGTCA	0.423			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(214-216)Ata>Gta		nuclear receptor coactivator 4							143.0	136.0	139.0					10																	51580580		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51580580A>G	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.166A>G	10.37:g.51580580A>G	ENSP00000390713:p.Ile56Val					NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.I56V|NCOA4_ENST00000374087.4_Missense_Mutation_p.I56V|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000374082.1_Missense_Mutation_p.I56V|NCOA4_ENST00000438493.1_Missense_Mutation_p.I72V|NCOA4_ENST00000430396.2_5'UTR|NCOA4_ENST00000443446.1_Missense_Mutation_p.I56V	p.I72V	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			4	466	+			56					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.214A>G	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626310	0.66901	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.21191	2.33;2.32;2.34;2.34;2.02;2.34	5.9	5.9	0.94986	.	0.052894	0.85682	D	0.000000	T	0.40956	0.1138	L	0.45581	1.43	0.80722	D	1	D;D;P	0.63880	0.993;0.993;0.905	D;D;P	0.76071	0.987;0.987;0.751	T	0.08973	-1.0696	10	0.48119	T	0.1	-14.9614	16.3245	0.82970	1.0:0.0:0.0:0.0	.	72;72;56	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	V	72;72;56;56;56;56;56	ENSP00000405146:I72V;ENSP00000395465:I72V;ENSP00000363200:I56V;ENSP00000344552:I56V;ENSP00000363195:I56V;ENSP00000390713:I56V	ENSP00000332421:I56V	I	+	1	0	NCOA4	51250586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.263000	0.65507	2.254000	0.74563	0.460000	0.39030	ATA		0.423	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		39	84	0	0	0	1	0	39	84				
RC3H2	54542	broad.mit.edu	37	9	125642364	125642364	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:125642364A>G	ENST00000373670.1	-	6	1601	c.1001T>C	c.(1000-1002)tTg>tCg	p.L334S	RC3H2_ENST00000423239.2_Missense_Mutation_p.L334S|RC3H2_ENST00000357244.2_Missense_Mutation_p.L334S|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000373665.2_Missense_Mutation_p.L334S|RC3H2_ENST00000335387.5_Missense_Mutation_p.L334S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	334					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACAATTGTCAATTCCTGGAC	0.388																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1000-1002)tTg>tCg		ring finger and CCCH-type domains 2							143.0	131.0	135.0					9																	125642364		1851	4092	5943	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125642364A>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1001T>C	9.37:g.125642364A>G	ENSP00000362774:p.Leu334Ser					RC3H2_ENST00000357244.2_Missense_Mutation_p.L334S|RC3H2_ENST00000373665.2_Missense_Mutation_p.L334S|RC3H2_ENST00000335387.5_Missense_Mutation_p.L334S|RC3H2_ENST00000423239.2_Missense_Mutation_p.L334S	p.L334S			Q9HBD1	RC3H2_HUMAN			6	1601	-			334					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1001T>C	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633393	0.87660	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88;-3.88	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;0.997	D;D;D;D	0.91635	0.999;0.999;0.969;0.986	D	0.98479	1.0604	10	0.87932	D	0	-18.9393	15.0165	0.71588	1.0:0.0:0.0:0.0	.	334;205;334;334	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	S	334;334;205;334;334;334	ENSP00000362774:L334S;ENSP00000349783:L334S;ENSP00000411767:L334S;ENSP00000362769:L334S;ENSP00000335150:L334S	ENSP00000335150:L334S	L	-	2	0	RC3H2	124682185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.206000	0.71126	0.455000	0.32223	TTG		0.388	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		58	84	0	0	0	1	0	58	84				
DVL1	1855	broad.mit.edu	37	1	1271635	1271635	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:1271635C>T	ENST00000378888.5	-	15	2259	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	DVL1_ENST00000378891.5_Missense_Mutation_p.G634R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	659					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGGTCCCCCGGGTGGCCCC	0.716																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1975-1977)Ggg>Agg		dishevelled segment polarity protein 1							3.0	4.0	4.0					1																	1271635		1992	3942	5934	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271635C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1975G>A	1.37:g.1271635C>T	ENSP00000368166:p.Gly659Arg					DVL1_ENST00000378891.5_Missense_Mutation_p.G634R	p.G659R			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2259	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	659					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1975G>A		.	.	.	.	.	.	.	.	.	.	C	14.97	2.693784	0.48202	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.06608	3.3;3.28	4.51	4.51	0.55191	Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.04693	-1.0933	10	0.72032	D	0.01	.	17.8294	0.88676	0.0:1.0:0.0:0.0	.	317;659;634	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	R	634;659;408;317	ENSP00000368169:G634R;ENSP00000368166:G659R	ENSP00000263743:G317R	G	-	1	0	DVL1	1261498	1.000000	0.71417	0.440000	0.26846	0.017000	0.09413	7.073000	0.76784	2.505000	0.84491	0.555000	0.69702	GGG		0.716	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		4	6	0	0	0	1	0	4	6				
TARBP1	6894	broad.mit.edu	37	1	234601437	234601437	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:234601437T>A	ENST00000040877.1	-	5	1265	c.1266A>T	c.(1264-1266)ttA>ttT	p.L422F		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	422					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCGCATCCATTAATGGTCCaa	0.303																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(1264-1266)ttA>ttT		TAR (HIV-1) RNA binding protein 1							65.0	66.0	66.0					1																	234601437		2203	4299	6502	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234601437T>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1266A>T	1.37:g.234601437T>A	ENSP00000040877:p.Leu422Phe						p.L422F	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		5	1265	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	422					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.1266A>T	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159866	0.57368	.	.	ENSG00000059588	ENST00000040877	T	0.16457	2.34	5.37	1.76	0.24704	.	0.092964	0.49916	D	0.000128	T	0.18087	0.0434	M	0.63843	1.955	0.46542	D	0.999097	P	0.47106	0.89	P	0.46076	0.503	T	0.02668	-1.1126	10	0.39692	T	0.17	-19.7344	4.1203	0.10103	0.1407:0.2433:0.0:0.616	.	422	Q13395	TARB1_HUMAN	F	422	ENSP00000040877:L422F	ENSP00000040877:L422F	L	-	3	2	TARBP1	232668060	1.000000	0.71417	0.954000	0.39281	0.991000	0.79684	0.509000	0.22707	0.426000	0.26116	0.523000	0.50628	TTA		0.303	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		5	26	0	0	0	1	0	5	26				
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A	rs546948015		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:79323756G>A	ENST00000376718.3	-	8	3557	c.3434C>T	c.(3433-3435)gCg>gTg	p.A1145V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A786V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522													A|||	1	0.000199681	0.0	0.0	5008	,	,		20449	0.0		0.001	False		,,,				2504	0.0					ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2356-2358)gCg>gTg		prune homolog 2 (Drosophila)							121.0	111.0	114.0					9																	79323756		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323756G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3434C>T	9.37:g.79323756G>A	ENSP00000365908:p.Ala1145Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V	p.A786V			Q8WUY3	PRUN2_HUMAN			8	3557	-			1145					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2357C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	2.851	-0.238399	0.05944	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.38401	1.15;1.14	6.08	6.08	0.98989	.	0.121361	0.37577	N	0.002034	T	0.12603	0.0306	N	0.01576	-0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.02654	T	1	-10.7943	11.0795	0.48051	0.9304:0.0:0.0696:0.0	.	1145	Q8WUY3	PRUN2_HUMAN	V	1145;786;1144	ENSP00000365908:A1145V;ENSP00000397425:A786V	ENSP00000365908:A1145V	A	-	2	0	PRUNE2	78513576	0.218000	0.23608	0.794000	0.32065	0.308000	0.27856	0.910000	0.28571	1.126000	0.42016	-0.254000	0.11334	GCG		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		4	129	0	0	0	1	0	4	129				
POU6F2	11281	broad.mit.edu	37	7	39500156	39500156	+	Silent	SNP	G	G	A	rs371316682		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:39500156G>A	ENST00000403058.1	+	10	1567	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	POU6F2_ENST00000518318.2_Silent_p.T471T|POU6F2_ENST00000559001.1_Silent_p.T416T	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	471					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCCTCAAACGGCAGCGGGTG	0.468																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1411-1413)acG>acA		POU class 6 homeobox 2		G	,	1,4405	2.1+/-5.4	0,1,2202	54.0	48.0	50.0		1413,1413	0.8	1.0	7		50	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	POU6F2	NM_001166018.1,NM_007252.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	471/656,471/692	39500156	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39500156G>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1413G>A	7.37:g.39500156G>A						POU6F2_ENST00000559001.1_Silent_p.T416T|POU6F2_ENST00000403058.1_Silent_p.T471T	p.T471T			P78424	PO6F2_HUMAN			9	1455	+			471					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.1413G>A	CCDS34620.2																																																																																				0.468	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		6	25	0	0	0	1	0	6	25				
SCAF1	58506	broad.mit.edu	37	19	50157646	50157646	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:50157646G>A	ENST00000360565.3	+	8	3481	c.3357G>A	c.(3355-3357)gcG>gcA	p.A1119A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1119					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCAACCTGGCGAGCCGAGCGA	0.602																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3355-3357)gcG>gcA		SR-related CTD-associated factor 1							30.0	29.0	29.0					19																	50157646		2201	4299	6500	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50157646G>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3357G>A	19.37:g.50157646G>A							p.A1119A	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	8	3481	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1119					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.3357G>A	CCDS33074.1																																																																																				0.602	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		13	43	0	0	0	1	0	13	43				
ADAMTS12	81792	broad.mit.edu	37	5	33576265	33576265	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:33576265T>A	ENST00000504830.1	-	19	4201	c.3866A>T	c.(3865-3867)gAt>gTt	p.D1289V	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1204V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1289	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTTGTTGCATCCTCCTCAGT	0.488										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3865-3867)gAt>gTt		ADAM metallopeptidase with thrombospondin type 1 motif, 12							219.0	217.0	218.0					5																	33576265		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576265T>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3866A>T	5.37:g.33576265T>A	ENSP00000422554:p.Asp1289Val	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1204V	p.D1289V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4201	-			1289			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3866A>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.200411	0.38905	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60171	0.22;0.21	5.47	5.47	0.80525	.	0.956280	0.08755	N	0.898489	T	0.65186	0.2667	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.48091	-0.9065	10	0.11794	T	0.64	.	11.9493	0.52946	0.0:0.0:0.0:1.0	.	1204;1289	P58397-3;P58397	.;ATS12_HUMAN	V	1289;1204	ENSP00000422554:D1289V;ENSP00000344847:D1204V	ENSP00000344847:D1204V	D	-	2	0	ADAMTS12	33612022	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	2.063000	0.41423	2.074000	0.62210	0.533000	0.62120	GAT		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		94	212	0	0	0	1	0	94	212				
IHH	3549	broad.mit.edu	37	2	219925177	219925177	+	Silent	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:219925177G>T	ENST00000295731.6	-	1	12	c.13C>A	c.(13-15)Cgg>Agg	p.R5R	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	5					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCGGAGCCGGGCGGGAGAC	0.776																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(13-15)Cgg>Agg		indian hedgehog							4.0	5.0	4.0					2																	219925177		1660	3451	5111	SO:0001819	synonymous_variant	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219925177G>T	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.13C>A	2.37:g.219925177G>T							p.R5R	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	12	-		Renal(207;0.0915)	5					B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	c.13C>A	CCDS33380.1																																																																																				0.776	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		9	7	1	0	1.12685e-05	1	1.15837e-05	9	7				
KIAA1161	57462	broad.mit.edu	37	9	34371652	34371652	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:34371652G>A	ENST00000297625.7	-	2	1413	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	430					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTAGCACCGCGCCGATGCCGT	0.677																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(1186-1188)ggC>ggT		KIAA1161							17.0	22.0	20.0					9																	34371652		2003	4158	6161	SO:0001819	synonymous_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371652G>A	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1188C>T	9.37:g.34371652G>A							p.G396G	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1413	-			430					Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.1188C>T																																																																																					0.677	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		10	7	0	0	0	1	0	10	7				
C1GALT1C1	29071	broad.mit.edu	37	X	119760995	119760995	+	Silent	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:119760995C>T	ENST00000304661.5	-	2	265	c.27G>A	c.(25-27)ttG>ttA	p.L9L	C1GALT1C1_ENST00000371313.2_Silent_p.L9L	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	9					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TCACACCCTTCAAAAAGGAGC	0.343																																						ENST00000304661.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(25-27)ttG>ttA		C1GALT1-specific chaperone 1							88.0	78.0	81.0					X																	119760995		2203	4300	6503	SO:0001819	synonymous_variant	29071					integral to membrane		g.chrX:119760995C>T	AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.27G>A	X.37:g.119760995C>T						C1GALT1C1_ENST00000371313.2_Silent_p.L9L	p.L9L	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN			2	265	-			9					A8K246|Q8WWS3|Q9NZX1	Silent	SNP	ENST00000304661.5	37	c.27G>A	CCDS14602.1																																																																																				0.343	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058117.1	NM_152692		36	117	0	0	0	1	0	36	117				
TP53I3	9540	broad.mit.edu	37	2	24305861	24305861	+	Silent	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:24305861A>T	ENST00000238721.4	-	2	1154	c.300T>A	c.(298-300)acT>acA	p.T100T	TP53I3_ENST00000335934.4_Silent_p.T100T|TP53I3_ENST00000407482.1_Silent_p.T100T|TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000313482.4_Silent_p.T100T|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	100					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCGGGGACAGTGACGTACT	0.647																																						ENST00000238721.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12						c.(298-300)acT>acA		tumor protein p53 inducible protein 3							54.0	55.0	55.0					2																	24305861		2203	4300	6503	SO:0001819	synonymous_variant	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24305861A>T	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.300T>A	2.37:g.24305861A>T						TP53I3_ENST00000417886.1_Intron|TP53I3_ENST00000335934.4_Silent_p.T100T|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Silent_p.T100T|TP53I3_ENST00000313482.4_Silent_p.T100T	p.T100T	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN			2	1154	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		100					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Silent	SNP	ENST00000238721.4	37	c.300T>A	CCDS1708.1																																																																																				0.647	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		11	37	0	0	0	1	0	11	37				
ATP10B	23120	broad.mit.edu	37	5	160047449	160047449	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:160047449G>T	ENST00000327245.5	-	15	3167	c.2321C>A	c.(2320-2322)tCt>tAt	p.S774Y	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	774					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACAACCACAGACATTCTCTT	0.602																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2320-2322)tCt>tAt		ATPase, class V, type 10B							45.0	49.0	48.0					5																	160047449		2099	4211	6310	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047449G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2321C>A	5.37:g.160047449G>T	ENSP00000313600:p.Ser774Tyr					CTC-348L5.1_ENST00000523598.1_RNA	p.S774Y	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	3167	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	774					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2321C>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764216	0.89932	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.73152	-0.72;-0.72	5.53	5.53	0.82687	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93463	0.6812	9	.	.	.	.	18.4818	0.90815	0.0:0.0:1.0:0.0	.	382;774	Q2YDW8;O94823	.;AT10B_HUMAN	Y	774;382	ENSP00000313600:S774Y;ENSP00000431081:S382Y	.	S	-	2	0	ATP10B	159980027	1.000000	0.71417	0.967000	0.41034	0.934000	0.57294	9.677000	0.98645	2.605000	0.88082	0.655000	0.94253	TCT		0.602	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		6	23	1	0	3.59834e-05	1	3.64797e-05	6	23				
MORC1	27136	broad.mit.edu	37	3	108819312	108819312	+	Missense_Mutation	SNP	C	C	T	rs374215295		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:108819312C>T	ENST00000483760.1	-	5	309	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	MORC1_ENST00000232603.5_Missense_Mutation_p.R89Q|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTTGACAGCCGTTTTTTGGA	0.398																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(265-267)cGg>cAg		MORC family CW-type zinc finger 1		C	GLN/ARG	0,4406		0,0,2203	184.0	184.0	184.0		266	3.5	0.7	3		184	1,8599	1.2+/-3.3	0,1,4299	no	missense	MORC1	NM_014429.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	89/985	108819312	1,13005	2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819312C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.266G>A	3.37:g.108819312C>T	ENSP00000417282:p.Arg89Gln					MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q	p.R89Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			5	348	-			89						Missense_Mutation	SNP	ENST00000483760.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	C	19.29	3.798725	0.70567	0.0	1.16E-4	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95035	-3.59;-3.59	5.32	3.53	0.40419	ATPase-like, ATP-binding domain (3);	0.312347	0.23631	N	0.046123	D	0.91078	0.7192	L	0.58669	1.825	0.29851	N	0.828413	P;B	0.40731	0.728;0.354	B;B	0.38156	0.266;0.219	D	0.86061	0.1532	10	0.35671	T	0.21	-3.4591	8.1909	0.31368	0.1574:0.7605:0.0:0.0821	.	89;89	E7ERX1;Q86VD1	.;MORC1_HUMAN	Q	89	ENSP00000232603:R89Q;ENSP00000417282:R89Q	ENSP00000232603:R89Q	R	-	2	0	MORC1	110302002	0.965000	0.33210	0.689000	0.30133	0.944000	0.59088	2.212000	0.42835	0.815000	0.34398	0.655000	0.94253	CGG		0.398	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			42	99	0	0	0	1	0	42	99				
MAP2K2	5605	broad.mit.edu	37	19	4101229	4101229	+	Missense_Mutation	SNP	C	C	T	rs530342723		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:4101229C>T	ENST00000262948.5	-	5	831	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	MAP2K2_ENST00000394867.4_Missense_Mutation_p.R96Q|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GGCCTTACCTCGGTGCATGAT	0.697													.|||	1	0.000199681	0.0	0.0	5008	,	,		11165	0.0		0.001	False		,,,				2504	0.0					ENST00000262948.5																			0											c.(577-579)cGa>cAa		mitogen-activated protein kinase kinase 2							19.0	18.0	18.0					19																	4101229		2197	4296	6493	SO:0001583	missense	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4101229C>T	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.578G>A	19.37:g.4101229C>T	ENSP00000262948:p.Arg193Gln					MAP2K2_ENST00000394867.4_Missense_Mutation_p.R96Q|MAP2K2_ENST00000599345.1_5'UTR	p.R193Q	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	5	831	-		Hepatocellular(1079;0.137)	193			Protein kinase.			Missense_Mutation	SNP	ENST00000262948.5	37	c.578G>A	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	c	35	5.437373	0.96168	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	D;D	0.96265	-3.96;-3.96	4.08	4.08	0.47627	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	D	0.99679	1.0998	10	0.87932	D	0	-14.0223	14.8759	0.70493	0.0:1.0:0.0:0.0	.	193	P36507	MP2K2_HUMAN	Q	193;96	ENSP00000262948:R193Q;ENSP00000378336:R96Q	ENSP00000262948:R193Q	R	-	2	0	MAP2K2	4052229	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.689000	0.84165	1.826000	0.53198	0.561000	0.74099	CGA		0.697	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			3	15	0	0	0	1	0	3	15				
ZNF835	90485	broad.mit.edu	37	19	57176557	57176557	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:57176557G>T	ENST00000537055.2	-	2	241	c.10C>A	c.(10-12)Ctc>Atc	p.L4I		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACGCTCAAGAGTCCCTCCATC	0.502																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(10-12)Ctc>Atc		zinc finger protein 835							60.0	62.0	61.0					19																	57176557		1954	4141	6095	SO:0001583	missense	90485							g.chr19:57176557G>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.10C>A	19.37:g.57176557G>T	ENSP00000444747:p.Leu4Ile						p.L4I	NM_001005850.2	NP_001005850.2					2	241	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.10C>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.928060	0.34002	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07444	3.19	2.28	0.0829	0.14431	.	.	.	.	.	T	0.04137	0.0115	L	0.27053	0.805	0.09310	N	1	P	0.42827	0.791	B	0.31751	0.135	T	0.39663	-0.9603	9	0.35671	T	0.21	.	4.4823	0.11773	0.341:0.0:0.659:0.0	.	26	Q9Y2P0	ZN835_HUMAN	I	26;4	ENSP00000444747:L4I	ENSP00000341756:L26I	L	-	1	0	ZNF835	61868369	0.002000	0.14202	0.004000	0.12327	0.533000	0.34776	0.847000	0.27696	0.092000	0.17331	0.561000	0.74099	CTC		0.502	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		12	33	1	0	6.31663e-08	1	6.63246e-08	12	33				
ACSM2A	123876	broad.mit.edu	37	16	20497952	20497952	+	Silent	SNP	G	G	A	rs1054980		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:20497952G>A	ENST00000573854.1	+	14	1800	c.1686G>A	c.(1684-1686)aaG>aaA	p.K562K	ACSM2A_ENST00000396104.2_Silent_p.K562K|ACSM2A_ENST00000575690.1_Silent_p.K562K|ACSM2A_ENST00000417235.2_Silent_p.K483K|ACSM2A_ENST00000219054.6_Silent_p.K562K|ACSM2A_ENST00000536134.1_Silent_p.K334K|AC137056.1_ENST00000593357.1_5'Flank	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	562					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AACGAGCCAAGCTTCGAGACA	0.468																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1684-1686)aaG>aaA		acyl-CoA synthetase medium-chain family member 2A							197.0	190.0	192.0					16																	20497952		2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20497952G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1686G>A	16.37:g.20497952G>A						ACSM2A_ENST00000536134.1_Silent_p.K334K|ACSM2A_ENST00000575690.1_Silent_p.K562K|ACSM2A_ENST00000417235.2_Silent_p.K483K|ACSM2A_ENST00000396104.2_Silent_p.K562K|ACSM2A_ENST00000219054.6_Silent_p.K562K	p.K562K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			14	1800	+			562					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1686G>A	CCDS32401.1																																																																																				0.468	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		35	196	0	0	0	1	0	35	196				
ADAT3	113179	broad.mit.edu	37	19	1912891	1912891	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:1912891G>A	ENST00000602400.1	+	2	1025	c.797G>A	c.(796-798)cGt>cAt	p.R266H	SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.R282H			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	266					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCGTGCGTAAACTGGAC	0.731																																						ENST00000329478.2																			0				breast(1)|kidney(3)|pancreas(1)|skin(2)	7						c.(844-846)cGt>cAt		adenosine deaminase, tRNA-specific 3							40.0	35.0	36.0					19																	1912891		2197	4285	6482	SO:0001583	missense	113179				tRNA processing		hydrolase activity|zinc ion binding	g.chr19:1912891G>A	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.797G>A	19.37:g.1912891G>A	ENSP00000473571:p.Arg266His					ADAT3_ENST00000602400.1_Missense_Mutation_p.R266H|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron	p.R282H			Q96EY9	ADAT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1065	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	266						Missense_Mutation	SNP	ENST00000602400.1	37	c.845G>A		.	.	.	.	.	.	.	.	.	.	g	9.012	0.982678	0.18889	.	.	ENSG00000213638	ENST00000329478	.	.	.	5.04	2.91	0.33838	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.276497	0.28360	N	0.015639	T	0.28962	0.0719	L	0.45352	1.415	0.09310	N	0.999996	B	0.29232	0.238	B	0.23018	0.043	T	0.15435	-1.0437	9	0.15066	T	0.55	-21.7809	9.4145	0.38512	0.1743:0.0:0.8257:0.0	.	266	Q96EY9	ADAT3_HUMAN	H	266	.	ENSP00000332448:R266H	R	+	2	0	ADAT3	1863891	0.027000	0.19231	0.789000	0.31954	0.074000	0.17049	1.017000	0.29989	0.538000	0.28769	0.549000	0.68633	CGT		0.731	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		17	24	0	0	0	1	0	17	24				
LCN8	138307	broad.mit.edu	37	9	139649881	139649881	+	Missense_Mutation	SNP	C	C	T	rs138766179		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr9:139649881C>T	ENST00000371688.3	-	4	609	c.314G>A	c.(313-315)cGc>cAc	p.R105H	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	128					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CTTGAGGACGCGAAAGTTCCT	0.657																																						ENST00000371688.3																			0				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10						c.(313-315)cGc>cAc		lipocalin 8		C	HIS/ARG	0,4402		0,0,2201	41.0	38.0	39.0		314	-2.1	0.0	9	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	missense	LCN8	NM_178469.3	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	105/153	139649881	1,13001	2201	4300	6501	SO:0001583	missense	138307				transport	extracellular region	binding	g.chr9:139649881C>T	AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"""Lipocalins"""	27038	protein-coding gene	gene with protein product		612902	"""chromosome 9 open reading frame 137"", ""lipocalin 5"""	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.314G>A	9.37:g.139649881C>T	ENSP00000360753:p.Arg105His					LCN8_ENST00000482893.1_5'UTR	p.R105H	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	4	609	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	128					A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	ENST00000371688.3	37	c.314G>A	CCDS35183.1	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.198118	0.01594	0.0	1.16E-4	ENSG00000204001	ENST00000371688	T	0.08282	3.11	3.41	-2.14	0.07123	.	.	.	.	.	T	0.02649	0.0080	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46693	-0.9173	9	0.08837	T	0.75	.	3.9264	0.09265	0.0:0.3579:0.2005:0.4416	.	105	Q6JVE9-2	.	H	105	ENSP00000360753:R105H	ENSP00000360753:R105H	R	-	2	0	LCN8	138769702	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.687000	0.05156	-0.388000	0.07797	-0.458000	0.05436	CGC		0.657	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	NM_178469		8	15	0	0	0	1	0	8	15				
FBN3	84467	broad.mit.edu	37	19	8203164	8203164	+	Silent	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:8203164G>A	ENST00000600128.1	-	10	1476	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	FBN3_ENST00000601739.1_Silent_p.P354P|FBN3_ENST00000270509.2_Silent_p.P354P			Q75N90	FBN3_HUMAN	fibrillin 3	354						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGGTGGCCGGGTAGCAGCG	0.672																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1060-1062)ccC>ccT		fibrillin 3							19.0	26.0	23.0					19																	8203164		2189	4289	6478	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8203164G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1062C>T	19.37:g.8203164G>A						FBN3_ENST00000601739.1_Silent_p.P354P|FBN3_ENST00000270509.2_Silent_p.P354P	p.P354P			Q75N90	FBN3_HUMAN			10	1476	-			354					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.1062C>T	CCDS12196.1																																																																																				0.672	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		8	11	0	0	0	1	0	8	11				
CCNI	10983	broad.mit.edu	37	4	77977406	77977406	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:77977406T>C	ENST00000237654.4	-	4	890	c.314A>G	c.(313-315)gAt>gGt	p.D105G	CCNI_ENST00000537948.1_Missense_Mutation_p.D91G|CCNI_ENST00000504697.1_5'UTR	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	105					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TATTACCTCATCTTCCTCAAC	0.333																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(313-315)gAt>gGt		cyclin I							73.0	77.0	75.0					4																	77977406		2203	4300	6503	SO:0001583	missense	10983				spermatogenesis			g.chr4:77977406T>C	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.314A>G	4.37:g.77977406T>C	ENSP00000237654:p.Asp105Gly					CCNI_ENST00000504697.1_5'UTR|CCNI_ENST00000537948.1_Missense_Mutation_p.D91G	p.D105G	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			4	890	-			105					B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	c.314A>G	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765433	0.69878	.	.	ENSG00000118816	ENST00000237654;ENST00000537948;ENST00000505609	T;T;T	0.12147	2.71;2.71;2.71	6.16	6.16	0.99307	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	M	0.79805	2.47	0.80722	D	1	B;B	0.26602	0.154;0.019	B;B	0.37346	0.247;0.031	T	0.03981	-1.0987	10	0.72032	D	0.01	-3.9748	16.8061	0.85666	0.0:0.0:0.0:1.0	.	91;105	B7Z6X4;Q14094	.;CCNI_HUMAN	G	105;91;105	ENSP00000237654:D105G;ENSP00000441001:D91G;ENSP00000426467:D105G	ENSP00000237654:D105G	D	-	2	0	CCNI	78196430	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	2.367000	0.80283	0.528000	0.53228	GAT		0.333	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		18	62	0	0	0	1	0	18	62				
DDX27	55661	broad.mit.edu	37	20	47841505	47841505	+	Missense_Mutation	SNP	A	A	G	rs550509569	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr20:47841505A>G	ENST00000371764.4	+	5	592	c.583A>G	c.(583-585)Aag>Gag	p.K195E	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	195	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAGGATCGGAAGAAGAAGAA	0.463																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(583-585)Aag>Gag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							108.0	104.0	105.0					20																	47841505		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47841505A>G	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.583A>G	20.37:g.47841505A>G	ENSP00000360828:p.Lys195Glu					DDX27_ENST00000484427.1_3'UTR	p.K195E	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		5	592	+			195			Asp/Glu/Lys-rich.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.583A>G	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938568	0.34189	.	.	ENSG00000124228	ENST00000371764	T	0.01527	4.8	4.01	4.01	0.46588	.	0.155800	0.47455	D	0.000224	T	0.02156	0.0067	L	0.50333	1.59	0.49687	D	0.999816	B	0.06786	0.001	B	0.04013	0.001	T	0.47071	-0.9145	10	0.11794	T	0.64	-3.0995	11.3206	0.49419	1.0:0.0:0.0:0.0	.	195	Q96GQ7	DDX27_HUMAN	E	195	ENSP00000360828:K195E	ENSP00000360828:K195E	K	+	1	0	DDX27	47274912	1.000000	0.71417	0.987000	0.45799	0.941000	0.58515	4.415000	0.59809	1.614000	0.50241	0.407000	0.27541	AAG		0.463	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			26	45	0	0	0	1	0	26	45				
MTMR8	55613	broad.mit.edu	37	X	63557245	63557245	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:63557245A>T	ENST00000374852.3	-	9	1071	c.1004T>A	c.(1003-1005)tTa>tAa	p.L335*	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Nonsense_Mutation_p.L335*	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	335	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACAATGGACTAAGACACTGGC	0.453																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1003-1005)tTa>tAa		myotubularin related protein 8							105.0	75.0	86.0					X																	63557245		2203	4299	6502	SO:0001587	stop_gained	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63557245A>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1004T>A	X.37:g.63557245A>T	ENSP00000363985:p.Leu335*					MTMR8_ENST00000453546.1_Nonsense_Mutation_p.L335*|MTMR8_ENST00000478487.1_5'UTR	p.L335*	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			9	1071	-			335			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Nonsense_Mutation	SNP	ENST00000374852.3	37	c.1004T>A	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238099	0.79800	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	.	.	.	2.7	2.7	0.31948	.	0.000000	0.40222	U	0.001151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3721	0.38261	1.0:0.0:0.0:0.0	.	.	.	.	X	335;335;221	.	ENSP00000247400:L221X	L	-	2	0	MTMR8	63473970	1.000000	0.71417	0.956000	0.39512	0.988000	0.76386	4.629000	0.61290	1.120000	0.41904	0.486000	0.48141	TTA		0.453	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		13	48	0	0	0	1	0	13	48				
ACSM2A	123876	broad.mit.edu	37	16	20497947	20497947	+	Missense_Mutation	SNP	G	G	A	rs1054977		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:20497947G>A	ENST00000573854.1	+	14	1795	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	ACSM2A_ENST00000396104.2_Missense_Mutation_p.A561T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A561T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A482T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A561T|ACSM2A_ENST00000536134.1_Missense_Mutation_p.A333T|AC137056.1_ENST00000593357.1_5'Flank	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	561			A -> T (in dbSNP:rs1054977).		fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AATTCAACGAGCCAAGCTTCG	0.473																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1681-1683)Gcc>Acc		acyl-CoA synthetase medium-chain family member 2A							197.0	189.0	192.0					16																	20497947		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20497947G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1681G>A	16.37:g.20497947G>A	ENSP00000459451:p.Ala561Thr					ACSM2A_ENST00000536134.1_Missense_Mutation_p.A333T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A561T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A482T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A561T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A561T	p.A561T	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			14	1795	+			561		A -> T (in dbSNP:rs1054977).			B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1681G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	7.623	0.677157	0.14841	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	3.63	-7.26	0.01466	.	2.547150	0.02226	N	0.064467	T	0.23410	0.0566	N	0.20304	0.555	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25328	-1.0135	10	0.12430	T	0.62	4.8646	0.7374	0.00968	0.37:0.1139:0.172:0.344	rs1054977;rs3195489;rs16970256;rs1054977	561	Q08AH3	ACS2A_HUMAN	T	482;561;333;561	ENSP00000392169:A482T;ENSP00000219054:A561T;ENSP00000445082:A333T;ENSP00000379411:A561T	ENSP00000219054:A561T	A	+	1	0	ACSM2A	20405448	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.829000	0.04415	-2.573000	0.00466	-1.206000	0.01644	GCC		0.473	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		34	195	0	0	0	1	0	34	195				
MUC6	4588	broad.mit.edu	37	11	1031902	1031902	+	Silent	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:1031902G>C	ENST00000421673.2	-	3	317	c.267C>G	c.(265-267)ggC>ggG	p.G89G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	89	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCCGTCTGGGCCTCGCCGCA	0.622																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(265-267)ggC>ggG		mucin 6, oligomeric mucus/gel-forming							67.0	74.0	71.0					11																	1031902		2141	4228	6369	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1031902G>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.267C>G	11.37:g.1031902G>C							p.G89G	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	317	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	89			VWFD 1.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.267C>G	CCDS44513.1																																																																																				0.622	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		4	47	0	0	0	1	0	4	47				
NUP155	9631	broad.mit.edu	37	5	37329378	37329378	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:37329378T>C	ENST00000231498.3	-	16	1930	c.1727A>G	c.(1726-1728)tAt>tGt	p.Y576C	NUP155_ENST00000381843.2_Missense_Mutation_p.Y517C|RNU7-75P_ENST00000516071.1_RNA|NUP155_ENST00000513532.1_Missense_Mutation_p.Y576C	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	576					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCACCACCATACCTATTTTT	0.398																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(1726-1728)tAt>tGt		nucleoporin 155kDa							97.0	90.0	92.0					5																	37329378		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37329378T>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1727A>G	5.37:g.37329378T>C	ENSP00000231498:p.Tyr576Cys					NUP155_ENST00000513532.1_Missense_Mutation_p.Y576C|NUP155_ENST00000381843.2_Missense_Mutation_p.Y517C	p.Y576C	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1930	-	all_lung(31;0.000137)		576					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.1727A>G	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463806	0.63513	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.79749	-1.29;-1.28;-1.3	5.87	4.68	0.58851	.	0.167553	0.53938	D	0.000041	D	0.87557	0.6207	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.86497	0.1801	10	0.42905	T	0.14	-2.8595	12.2213	0.54435	0.1277:0.0:0.0:0.8722	.	576;576	E9PF10;O75694	.;NU155_HUMAN	C	576;517;538;576	ENSP00000231498:Y576C;ENSP00000371265:Y517C;ENSP00000422019:Y576C	ENSP00000231498:Y576C	Y	-	2	0	NUP155	37365135	1.000000	0.71417	0.887000	0.34795	0.661000	0.39034	6.937000	0.75898	0.994000	0.38892	0.477000	0.44152	TAT		0.398	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		15	39	0	0	0	1	0	15	39				
TRIM46	80128	broad.mit.edu	37	1	155152405	155152405	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:155152405C>A	ENST00000334634.4	+	8	1583	c.1583C>A	c.(1582-1584)gCa>gAa	p.A528E	TRIM46_ENST00000368385.4_Missense_Mutation_p.A528E|TRIM46_ENST00000545012.1_Missense_Mutation_p.A402E|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.A528E|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.A505E|TRIM46_ENST00000543729.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	528	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACGCCCCCGGCACCTGGTGAG	0.647																																						ENST00000368382.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(1513-1515)gCa>gAa		tripartite motif containing 46							21.0	21.0	21.0					1																	155152405		2202	4298	6500	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155152405C>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1583C>A	1.37:g.155152405C>A	ENSP00000334657:p.Ala528Glu					TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.A528E|TRIM46_ENST00000334634.4_Missense_Mutation_p.A528E|TRIM46_ENST00000368383.3_Missense_Mutation_p.A528E|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.A402E|TRIM46_ENST00000543729.1_3'UTR	p.A505E	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1651	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		528			Fibronectin type-III.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1514C>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500691	0.44455	.	.	ENSG00000163462	ENST00000430513;ENST00000368385;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	3.77	3.77	0.43336	Fibronectin, type III (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.41396	0.1157	L	0.59436	1.845	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.80764	0.993;0.986;0.993;0.994	T	0.39272	-0.9622	10	0.72032	D	0.01	.	13.514	0.61530	0.0:1.0:0.0:0.0	.	528;505;528;528	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	E	486;528;402;528;505;528	ENSP00000357369:A528E;ENSP00000440254:A402E;ENSP00000357367:A528E;ENSP00000357366:A505E;ENSP00000334657:A528E	ENSP00000334657:A528E	A	+	2	0	TRIM46	153419029	1.000000	0.71417	0.446000	0.26920	0.033000	0.12548	7.069000	0.76755	2.127000	0.65507	0.462000	0.41574	GCA		0.647	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		8	18	1	0	1.12685e-05	1	1.15837e-05	8	18				
ELMO3	79767	broad.mit.edu	37	16	67237408	67237408	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:67237408T>C	ENST00000360833.1	+	18	2037	c.1980T>C	c.(1978-1980)taT>taC	p.Y660Y	MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Silent_p.Y511Y|ELMO3_ENST00000393997.2_Silent_p.Y677Y			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	624	PH.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGGACCTCTATGAGTTGGCCT	0.637																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(2029-2031)taT>taC		engulfment and cell motility 3							79.0	83.0	81.0					16																	67237408		2184	4291	6475	SO:0001819	synonymous_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237408T>C		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1980T>C	16.37:g.67237408T>C						ELMO3_ENST00000477898.1_Silent_p.Y511Y|ELMO3_ENST00000360833.1_Silent_p.Y660Y	p.Y677Y	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	19	2088	+		Ovarian(137;0.0563)	624					B4DV86|Q9H8A5	Silent	SNP	ENST00000360833.1	37	c.2031T>C																																																																																					0.637	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		13	35	0	0	0	1	0	13	35				
CSMD3	114788	broad.mit.edu	37	8	113246683	113246683	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:113246683G>A	ENST00000297405.5	-	68	10895	c.10651C>T	c.(10651-10653)Cgc>Tgc	p.R3551C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3551						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACATTAGGCGAGCTTCCTGG	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10651-10653)Cgc>Tgc		CUB and Sushi multiple domains 3							152.0	149.0	150.0					8																	113246683		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113246683G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10651C>T	8.37:g.113246683G>A	ENSP00000297405:p.Arg3551Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C	p.R3551C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			68	10895	-			3551					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10651C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773249	0.90108	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27720	1.97;1.97;2.0;1.65;1.99	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000004	T	0.51991	0.1707	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79108	0.992;0.982;0.921	T	0.51772	-0.8663	10	0.72032	D	0.01	.	18.8461	0.92208	0.0:0.0:1.0:0.0	.	3382;3551;3511	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3511;3551;2821;3382;3481	ENSP00000345799:R3511C;ENSP00000297405:R3551C;ENSP00000341558:R2821C;ENSP00000412263:R3382C;ENSP00000343124:R3481C	ENSP00000297405:R3551C	R	-	1	0	CSMD3	113315859	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.757000	0.62213	2.690000	0.91761	0.655000	0.94253	CGC		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		80	97	0	0	0	1	0	80	97				
HSPG2	3339	broad.mit.edu	37	1	22191370	22191370	+	Missense_Mutation	SNP	C	C	T	rs553872815		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:22191370C>T	ENST00000374695.3	-	36	4671	c.4592G>A	c.(4591-4593)cGc>cAc	p.R1531H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1531	Laminin EGF-like 9; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGCGGGCAGCGGCACTCCTC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		13397	0.0		0.001	False		,,,				2504	0.0					ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(4591-4593)cGc>cAc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						17.0	16.0	16.0					1																	22191370		2193	4292	6485	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22191370C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4592G>A	1.37:g.22191370C>T	ENSP00000363827:p.Arg1531His						p.R1531H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	36	4671	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1531			Laminin EGF-like 9; second part.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.4592G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527969	0.64860	.	.	ENSG00000142798	ENST00000374695	T	0.61392	0.11	5.31	3.33	0.38152	EGF-like, laminin (2);EGF-like region, conserved site (2);	0.000000	0.39083	N	0.001470	T	0.41465	0.1160	N	0.14661	0.345	0.43714	D	0.99618	P	0.45176	0.852	B	0.44278	0.445	T	0.40590	-0.9555	10	0.62326	D	0.03	.	8.6397	0.33970	0.0:0.7613:0.153:0.0857	.	1531	P98160	PGBM_HUMAN	H	1531	ENSP00000363827:R1531H	ENSP00000363827:R1531H	R	-	2	0	HSPG2	22063957	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.254000	0.43214	1.263000	0.44181	-0.444000	0.05651	CGC		0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	13	0	0	0	1	0	4	13				
PLEKHG4	25894	broad.mit.edu	37	16	67318814	67318814	+	Missense_Mutation	SNP	C	C	T	rs138070673		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:67318814C>T	ENST00000360461.5	+	12	4426	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R631W|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R631W|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R550W	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	631							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R631W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGCCTGGGCGCGGTGCCAGGA	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17200	0.0		0.0	False		,,,				2504	0.001					ENST00000360461.5																			1	Substitution - Missense(1)	p.R631W(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1891-1893)Cgg>Tgg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4391		0,1,2195	17.0	17.0	17.0		1891,1891,1891,1648,1891	0.9	0.0	16	dbSNP_134	17	8,8576		0,8,4284	yes	missense,missense,missense,missense,missense	PLEKHG4	NM_001129727.1,NM_001129728.1,NM_001129729.1,NM_001129731.1,NM_015432.3	101,101,101,101,101	0,9,6479	TT,TC,CC		0.0932,0.0228,0.0694	benign,benign,benign,benign,benign	631/1192,631/1192,631/1192,550/1111,631/1192	67318814	9,12967	2196	4292	6488	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67318814C>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1891C>T	16.37:g.67318814C>T	ENSP00000353646:p.Arg631Trp					PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R631W|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R550W|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R631W	p.R631W	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	12	4426	+			631					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.1891C>T	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360231	0.24598	2.28E-4	9.32E-4	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.12361	2.7;2.7;2.7;2.69	4.34	0.911	0.19343	.	.	.	.	.	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.33189	-0.9878	9	0.52906	T	0.07	.	3.871	0.09036	0.3318:0.4576:0.0:0.2106	.	550;631	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	W	631;631;631;550	ENSP00000353646:R631W;ENSP00000401118:R631W;ENSP00000368649:R631W;ENSP00000398030:R550W	ENSP00000353646:R631W	R	+	1	2	PLEKHG4	65876315	0.000000	0.05858	0.006000	0.13384	0.377000	0.30045	0.457000	0.21875	0.815000	0.34398	0.591000	0.81541	CGG		0.667	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		8	22	0	0	0	1	0	8	22				
RNF111	54778	broad.mit.edu	37	15	59359272	59359272	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:59359272A>G	ENST00000557998.1	+	6	1963	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	RNF111_ENST00000559209.1_Missense_Mutation_p.Y559C|RNF111_ENST00000348370.4_Missense_Mutation_p.Y559C|RNF111_ENST00000434298.1_Missense_Mutation_p.Y559C|RNF111_ENST00000561186.1_Missense_Mutation_p.Y559C	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	559					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GGTACCAGCTATCATGAACAG	0.473																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1675-1677)tAt>tGt		ring finger protein 111							107.0	97.0	100.0					15																	59359272		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59359272A>G	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1676A>G	15.37:g.59359272A>G	ENSP00000452732:p.Tyr559Cys					RNF111_ENST00000559209.1_Missense_Mutation_p.Y559C|RNF111_ENST00000561186.1_Missense_Mutation_p.Y559C|RNF111_ENST00000434298.1_Missense_Mutation_p.Y559C|RNF111_ENST00000557998.1_Missense_Mutation_p.Y559C	p.Y559C	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	6	2109	+			559					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.1676A>G	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918488	0.73098	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.30448	1.53;1.54	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.98;0.991	T	0.44406	-0.9330	10	0.87932	D	0	-15.2776	15.1499	0.72689	1.0:0.0:0.0:0.0	.	559;559;559	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	C	559	ENSP00000288199:Y559C;ENSP00000393641:Y559C	ENSP00000288199:Y559C	Y	+	2	0	RNF111	57146564	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.836000	0.86788	2.176000	0.68965	0.379000	0.24179	TAT		0.473	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		19	64	0	0	0	1	0	19	64				
XPNPEP1	7511	broad.mit.edu	37	10	111643888	111643888	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr10:111643888C>T	ENST00000502935.1	-	9	886	c.767G>A	c.(766-768)gGa>gAa	p.G256E	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.G142E|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.G213E|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.G256E					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CACATCTGATCCTCGGAGATT	0.463											OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(766-768)gGa>gAa		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							167.0	165.0	166.0					10																	111643888		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111643888C>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.767G>A	10.37:g.111643888C>T	ENSP00000421566:p.Gly256Glu		OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1436	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.G142E|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.G256E|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.G213E|XPNPEP1_ENST00000430337.1_5'UTR	p.G256E			Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	9	886	-		Breast(234;0.174)	213						Missense_Mutation	SNP	ENST00000502935.1	37	c.767G>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765762	0.90020	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	H	0.97564	4.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.95594	0.8657	10	0.87932	D	0	-10.9681	17.3671	0.87367	0.0:1.0:0.0:0.0	.	256;256;213	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	E	256;142;256;213;213;181	ENSP00000421566:G256E;ENSP00000358697:G142E;ENSP00000324011:G256E;ENSP00000358694:G213E;ENSP00000385388:G213E	ENSP00000324011:G256E	G	-	2	0	XPNPEP1	111633878	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.920000	0.70017	2.615000	0.88500	0.655000	0.94253	GGA		0.463	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			49	91	0	0	0	1	0	49	91				
GAK	2580	broad.mit.edu	37	4	877870	877870	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:877870C>T	ENST00000314167.4	-	12	1320	c.1210G>A	c.(1210-1212)Gca>Aca	p.A404T	GAK_ENST00000511163.1_Missense_Mutation_p.A325T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	404	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCACCCTTTGCATAACTGGAA	0.532																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1210-1212)Gca>Aca		cyclin G associated kinase							113.0	97.0	103.0					4																	877870		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:877870C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1210G>A	4.37:g.877870C>T	ENSP00000314499:p.Ala404Thr					GAK_ENST00000511163.1_Missense_Mutation_p.A325T	p.A404T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	12	1320	-			404			Phosphatase tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1210G>A	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.501933	0.44455	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.78364	-0.71;-1.17	5.35	5.35	0.76521	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	N	0.10837	0.055	0.80722	D	1	P;D;P;P	0.55800	0.589;0.973;0.876;0.876	B;P;P;P	0.56514	0.264;0.8;0.464;0.464	T	0.69064	-0.5244	10	0.15952	T	0.53	-31.2981	16.906	0.86128	0.0:1.0:0.0:0.0	.	325;325;404;300	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	T	404;325	ENSP00000314499:A404T;ENSP00000421361:A325T	ENSP00000314499:A404T	A	-	1	0	GAK	867870	1.000000	0.71417	0.819000	0.32651	0.434000	0.31775	5.874000	0.69652	2.661000	0.90470	0.655000	0.94253	GCA		0.532	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		11	51	0	0	0	1	0	11	51				
TNFRSF19	55504	broad.mit.edu	37	13	24233325	24233325	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr13:24233325G>C	ENST00000382258.4	+	6	786	c.582G>C	c.(580-582)aaG>aaC	p.K194N	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.K194N|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.K62N|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.K194N	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	194					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTATTGTAAGAGACAGTTTA	0.512																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(580-582)aaG>aaC		tumor necrosis factor receptor superfamily, member 19							53.0	55.0	55.0					13																	24233325		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24233325G>C	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.582G>C	13.37:g.24233325G>C	ENSP00000371693:p.Lys194Asn					TNFRSF19_ENST00000382258.4_Missense_Mutation_p.K194N|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.K194N|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.K62N	p.K194N	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	6	766	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	194					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.582G>C	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706461	0.68615	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.92	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.74258	2.255	0.49915	D	0.999833	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	T	0.53121	-0.8483	10	0.72032	D	0.01	-34.5701	9.7841	0.40666	0.2706:0.0:0.7294:0.0	.	62;194;194	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	N	194;62;194;194	ENSP00000248484:K194N;ENSP00000385408:K62N;ENSP00000371693:K194N;ENSP00000371698:K194N	ENSP00000248484:K194N	K	+	3	2	TNFRSF19	23131325	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.649000	0.61433	0.850000	0.35239	-0.150000	0.13652	AAG		0.512	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		27	55	0	0	0	1	0	27	55				
XIAP	331	broad.mit.edu	37	X	123019596	123019596	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:123019596T>C	ENST00000371199.3	+	2	383	c.84T>C	c.(82-84)aaT>aaC	p.N28N	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Silent_p.N28N|XIAP_ENST00000355640.3_Silent_p.N28N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	28					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AAGAGTTTAATAGATTAAAAA	0.368									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(82-84)aaT>aaC		X-linked inhibitor of apoptosis							66.0	71.0	69.0					X																	123019596		2202	4300	6502	SO:0001819	synonymous_variant	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019596T>C	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.84T>C	X.37:g.123019596T>C						XIAP_ENST00000434753.3_Silent_p.N28N|XIAP_ENST00000355640.3_Silent_p.N28N|XIAP_ENST00000468691.1_Intron	p.N28N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	383	+			28					D3DTF2|Q9NQ14	Silent	SNP	ENST00000371199.3	37	c.84T>C	CCDS14606.1																																																																																				0.368	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		57	169	0	0	0	1	0	57	169				
RPL5	6125	broad.mit.edu	37	1	93301939	93301939	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:93301939A>G	ENST00000370321.3	+	5	607	c.517A>G	c.(517-519)Atc>Gtc	p.I173V	SNORA66_ENST00000515986.1_RNA|SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	173					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGGCTTGTCTATCCCTCACAG	0.468																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(517-519)Atc>Gtc		ribosomal protein L5							68.0	75.0	73.0					1																	93301939		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301939A>G	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.517A>G	1.37:g.93301939A>G	ENSP00000359345:p.Ile173Val						p.I173V	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	607	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	173					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.517A>G	CCDS741.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.918779	0.33908	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.64991	-0.13	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.41906	1.305	0.80722	D	1	B	0.09022	0.002	B	0.17433	0.018	T	0.32052	-0.9921	10	0.30078	T	0.28	.	14.5167	0.67824	1.0:0.0:0.0:0.0	.	173	P46777	RL5_HUMAN	V	123;173;123	ENSP00000359345:I173V	ENSP00000359338:I123V	I	+	1	0	RPL5	93074527	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.117000	0.94347	1.818000	0.53035	0.378000	0.23410	ATC		0.468	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		24	53	0	0	0	1	0	24	53				
ZFHX3	463	broad.mit.edu	37	16	72984482	72984482	+	Silent	SNP	G	G	A	rs150708280	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr16:72984482G>A	ENST00000268489.5	-	3	3774	c.3102C>T	c.(3100-3102)atC>atT	p.I1034I	ZFHX3_ENST00000397992.5_Silent_p.I120I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1034					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGGGTTGCCGATGGCCACAC	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19135	0.0		0.0	False		,,,				2504	0.0					ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(3100-3102)atC>atT		zinc finger homeobox 3							148.0	111.0	124.0					16																	72984482		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72984482G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3102C>T	16.37:g.72984482G>A						ZFHX3_ENST00000397992.5_Silent_p.I120I	p.I1034I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			3	3774	-		Ovarian(137;0.13)	1034					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.3102C>T	CCDS10908.1																																																																																				0.612	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		20	49	0	0	0	1	0	20	49				
CSNK1E	1454	broad.mit.edu	37	22	38696830	38696830	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr22:38696830T>C	ENST00000396832.1	-	5	724	c.464A>G	c.(463-465)aAg>aGg	p.K155R	CSNK1E_ENST00000405675.3_Missense_Mutation_p.K155R|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Missense_Mutation_p.K155R|CSNK1E_ENST00000400206.2_Missense_Mutation_p.K155R|CSNK1E_ENST00000359867.3_Missense_Mutation_p.K155R|CSNK1E_ENST00000413574.2_Missense_Mutation_p.K155R	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GTCCCGGTACTTCTTGGCCAG	0.597																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	ENST00000396832.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(463-465)aAg>aGg		casein kinase 1, epsilon							174.0	141.0	152.0					22																	38696830		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38696830T>C		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.464A>G	22.37:g.38696830T>C	ENSP00000380044:p.Lys155Arg					CSNK1E_ENST00000413574.2_Missense_Mutation_p.K155R|CSNK1E_ENST00000405675.3_Missense_Mutation_p.K155R|CSNK1E_ENST00000403904.1_Missense_Mutation_p.K155R|CSNK1E_ENST00000400206.2_Missense_Mutation_p.K155R|CSNK1E_ENST00000359867.3_Missense_Mutation_p.K155R	p.K155R	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN			5	724	-	Melanoma(58;0.045)		155			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.464A>G	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.82|19.82	3.898354|3.898354	0.72639|0.72639	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335|ENST00000451964	T;T;T;T;T;T;T|.	0.11385|.	2.78;2.78;2.78;2.78;2.78;2.78;2.78|.	4.92|4.92	4.92|4.92	0.64577|0.64577	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.228668|.	0.50627|.	D|.	0.000114|.	T|T	0.47229|0.47229	0.1434|0.1434	N|N	0.13272|0.13272	0.32|0.32	0.80722|0.80722	D|D	1|1	B;B;B|.	0.12630|.	0.005;0.006;0.003|.	B;B;B|.	0.19391|.	0.025;0.017;0.01|.	T|T	0.42666|0.42666	-0.9438|-0.9438	10|5	0.49607|.	T|.	0.09|.	.|.	14.7118|14.7118	0.69238|0.69238	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	155;155;155|.	B0QY35;B0QY34;P49674|.	.;.;KC1E_HUMAN|.	R|G	155|93	ENSP00000352929:K155R;ENSP00000380044:K155R;ENSP00000383067:K155R;ENSP00000384074:K155R;ENSP00000407235:K155R;ENSP00000384426:K155R;ENSP00000412335:K155R|.	ENSP00000352929:K155R|.	K|S	-|-	2|1	0|0	CSNK1E|CSNK1E	37026776|37026776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.757000|7.757000	0.85209|0.85209	2.200000|2.200000	0.70718|0.70718	0.459000|0.459000	0.35465|0.35465	AAG|AGT		0.597	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		41	89	0	0	0	1	0	41	89				
METTL16	79066	broad.mit.edu	37	17	2318556	2318556	+	IGR	SNP	T	T	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:2318556T>A	ENST00000263092.6	-	0	5711				AC006435.1_ENST00000609667.1_Missense_Mutation_p.L32F|METTL16_ENST00000571669.2_5'Flank	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16								methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ACCAGAAACATAAGGGGAGAC	0.567																																						ENST00000571332.1																			0																				139.0	149.0	146.0					17																	2318556		1984	4140	6124	SO:0001628	intergenic_variant	79066							g.chr17:2318556T>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50			17.37:g.2318556T>A								NR_028335.1						0	823	-								D3DTI8|Q86TE5|Q96T16|Q9BVG7	RNA	SNP	ENST00000263092.6	37		CCDS42232.1	.	.	.	.	.	.	.	.	.	.	T	3.855	-0.031006	0.07543	.	.	ENSG00000205821	ENST00000381977	.	.	.	2.52	-2.07	0.07276	.	.	.	.	.	T	0.19127	0.0459	.	.	.	.	.	.	B	0.34255	0.445	B	0.23574	0.047	T	0.13791	-1.0496	6	0.87932	D	0	.	2.7661	0.05320	0.528:0.1474:0.0:0.3246	.	32	Q4G0H6	.	F	32	.	ENSP00000371404:L32F	L	-	3	2	AC006435.1	2265306	0.003000	0.15002	0.000000	0.03702	0.021000	0.10359	-0.366000	0.07563	-0.508000	0.06540	0.260000	0.18958	TTA		0.567	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		104	63	0	0	0	1	0	104	63				
HDAC11	79885	broad.mit.edu	37	3	13544481	13544481	+	Splice_Site	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:13544481G>A	ENST00000295757.3	+	8	832		c.e8+1		HDAC11_ENST00000433119.1_Splice_Site|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Splice_Site|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Splice_Site|HDAC11_ENST00000437379.2_Splice_Site|HDAC11_ENST00000446613.2_Splice_Site|HDAC11_ENST00000404040.1_Splice_Site	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11						chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|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)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TTTGCCAAGCGTAAGCTGCTG	0.572																																						ENST00000295757.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.e8+1		histone deacetylase 11							168.0	149.0	155.0					3																	13544481		2203	4300	6503	SO:0001630	splice_region_variant	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13544481G>A	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.649+1G>A	3.37:g.13544481G>A						HDAC11_ENST00000446613.2_Splice_Site|HDAC11_ENST00000404040.1_Splice_Site|HDAC11_ENST00000522202.1_Splice_Site|HDAC11_ENST00000402271.1_Splice_Site|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000433119.1_Splice_Site|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000437379.2_Splice_Site|HDAC11_ENST00000404548.1_Intron		NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN			8	832	+								B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Splice_Site	SNP	ENST00000295757.3	37		CCDS2615.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296188	0.81025	.	.	ENSG00000163517	ENST00000433119;ENST00000295757;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000405478;ENST00000522202;ENST00000437379	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6763	0.77326	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HDAC11	13519481	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.434000	0.90294	2.301000	0.77427	0.491000	0.48974	.		0.572	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827	Intron	42	50	0	0	0	1	0	42	50				
HSPA4	3308	broad.mit.edu	37	5	132440088	132440088	+	Missense_Mutation	SNP	C	C	T	rs377082440		TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:132440088C>T	ENST00000304858.2	+	19	2772	c.2483C>T	c.(2482-2484)tCg>tTg	p.S828L		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	828					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.S828L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGTGCCTTCGGATTCAGAC	0.438																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			1	Substitution - Missense(1)	p.S828L(1)	endometrium(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(2482-2484)tCg>tTg		heat shock 70kDa protein 4		C	LEU/SER	0,4406		0,0,2203	74.0	80.0	78.0		2483	4.2	0.9	5		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPA4	NM_002154.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	828/841	132440088	1,13005	2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132440088C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2483C>T	5.37:g.132440088C>T	ENSP00000302961:p.Ser828Leu						p.S828L	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		19	2772	+			828					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.2483C>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092233	0.36952	0.0	1.16E-4	ENSG00000170606	ENST00000304858;ENST00000321956	T	0.01197	5.19	5.92	4.16	0.48862	.	0.407512	0.28203	N	0.016206	T	0.01124	0.0037	N	0.22421	0.69	0.26490	N	0.974953	B	0.06786	0.001	B	0.04013	0.001	T	0.45804	-0.9236	10	0.23302	T	0.38	-4.1012	12.594	0.56459	0.0:0.8665:0.0:0.1335	.	828	P34932	HSP74_HUMAN	L	828;136	ENSP00000302961:S828L	ENSP00000302961:S828L	S	+	2	0	HSPA4	132467987	0.502000	0.26107	0.865000	0.33974	0.595000	0.36748	1.431000	0.34925	0.861000	0.35504	-0.234000	0.12200	TCG		0.438	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		25	53	0	0	0	1	0	25	53				
CSMD3	114788	broad.mit.edu	37	8	113418852	113418852	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:113418852A>T	ENST00000297405.5	-	35	5954	c.5710T>A	c.(5710-5712)Tgt>Agt	p.C1904S	CSMD3_ENST00000343508.3_Missense_Mutation_p.C1864S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C1834S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1800S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1904	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTGGATTACAATCAAAAAGA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5710-5712)Tgt>Agt		CUB and Sushi multiple domains 3							119.0	115.0	117.0					8																	113418852		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418852A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5710T>A	8.37:g.113418852A>T	ENSP00000297405:p.Cys1904Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.C1864S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1800S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C1834S	p.C1904S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			35	5954	-			1904			Sushi 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5710T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.525333	0.64747	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.99312	4.51	0.49687	D	0.999811	B;B;D	0.76494	0.194;0.025;0.999	B;B;D	0.91635	0.087;0.044;0.999	D	0.96163	0.9117	10	0.87932	D	0	.	15.0021	0.71483	1.0:0.0:0.0:0.0	.	1800;1904;1864	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1864;1904;1174;1800;1834	ENSP00000345799:C1864S;ENSP00000297405:C1904S;ENSP00000341558:C1174S;ENSP00000412263:C1800S;ENSP00000343124:C1834S	ENSP00000297405:C1904S	C	-	1	0	CSMD3	113488028	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.087000	0.94110	2.198000	0.70561	0.533000	0.62120	TGT		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		85	88	0	0	0	1	0	85	88				
PRICKLE2	166336	broad.mit.edu	37	3	64133296	64133296	+	Silent	SNP	T	T	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr3:64133296T>C	ENST00000295902.6	-	7	1455	c.870A>G	c.(868-870)aaA>aaG	p.K290K	PRICKLE2_ENST00000564377.1_Silent_p.K346K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	290	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCAGGAGGGATTTCTTGCAGT	0.532																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(868-870)aaA>aaG		prickle homolog 2 (Drosophila)							75.0	78.0	77.0					3																	64133296		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133296T>C	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.870A>G	3.37:g.64133296T>C						PRICKLE2_ENST00000564377.1_Silent_p.K346K	p.K290K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1455	-		Lung NSC(201;0.136)	290			LIM zinc-binding 3.		Q0VF44	Silent	SNP	ENST00000295902.6	37	c.870A>G	CCDS2902.1																																																																																				0.532	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		26	42	0	0	0	1	0	26	42				
UACA	55075	broad.mit.edu	37	15	70959587	70959587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr15:70959587G>A	ENST00000322954.6	-	16	3621	c.3436C>T	c.(3436-3438)Cag>Tag	p.Q1146*	UACA_ENST00000560441.1_Nonsense_Mutation_p.Q1131*|UACA_ENST00000539319.1_Nonsense_Mutation_p.Q1037*|UACA_ENST00000379983.2_Nonsense_Mutation_p.Q1133*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1146					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACTGTCTGCTGCTCTTTCTCG	0.398																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3436-3438)Cag>Tag		uveal autoantigen with coiled-coil domains and ankyrin repeats							176.0	174.0	175.0					15																	70959587		2198	4296	6494	SO:0001587	stop_gained	55075					cytoskeleton|extracellular region		g.chr15:70959587G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3436C>T	15.37:g.70959587G>A	ENSP00000314556:p.Gln1146*					UACA_ENST00000379983.2_Nonsense_Mutation_p.Q1133*|UACA_ENST00000560441.1_Nonsense_Mutation_p.Q1131*|UACA_ENST00000539319.1_Nonsense_Mutation_p.Q1037*	p.Q1146*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3621	-			1146					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Nonsense_Mutation	SNP	ENST00000322954.6	37	c.3436C>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	44	10.983547	0.99499	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	.	.	.	5.66	4.69	0.59074	.	0.241087	0.29940	N	0.010805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.1091	14.7626	0.69617	0.0:0.0:0.7792:0.2208	.	.	.	.	X	1146;1133;1037	.	ENSP00000314556:Q1146X	Q	-	1	0	UACA	68746641	0.987000	0.35691	1.000000	0.80357	0.988000	0.76386	1.409000	0.34680	2.665000	0.90641	0.655000	0.94253	CAG		0.398	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			9	228	0	0	0	1	0	9	228				
TBC1D31	93594	broad.mit.edu	37	8	124138344	124138344	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr8:124138344A>G	ENST00000287380.1	+	12	1709	c.1619A>G	c.(1618-1620)aAt>aGt	p.N540S	TBC1D31_ENST00000378080.2_Missense_Mutation_p.N435S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.N435S|TBC1D31_ENST00000518805.1_Missense_Mutation_p.N173S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.N540S|TBC1D31_ENST00000521676.1_Missense_Mutation_p.N417S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.N540S	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	540	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										CCTCCTATCAATATTCTTAGC	0.328																																						ENST00000287380.1																			0											c.(1618-1620)aAt>aGt		TBC1 domain family, member 31							78.0	78.0	78.0					8																	124138344		2203	4297	6500	SO:0001583	missense	93594							g.chr8:124138344A>G	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1619A>G	8.37:g.124138344A>G	ENSP00000287380:p.Asn540Ser					TBC1D31_ENST00000378080.2_Missense_Mutation_p.N435S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.N435S|TBC1D31_ENST00000518805.1_Missense_Mutation_p.N173S|TBC1D31_ENST00000521676.1_Missense_Mutation_p.N417S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.N540S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.N540S	p.N540S	NM_145647.3	NP_663622.2					12	1709	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.1619A>G	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932352	0.52866	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.43	4.28	0.50868	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.55103	1.725	0.58432	D	0.999999	B;B;B	0.34147	0.007;0.063;0.438	B;B;B	0.43301	0.08;0.043;0.415	T	0.21965	-1.0230	10	0.44086	T	0.13	-26.4286	11.016	0.47689	0.927:0.0:0.073:0.0	.	540;435;540	B7ZL19;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	S	540;540;540;435;417;435;173	ENSP00000287380:N540S;ENSP00000308358:N540S;ENSP00000312701:N540S;ENSP00000429334:N435S;ENSP00000430628:N417S;ENSP00000367320:N435S;ENSP00000429494:N173S	ENSP00000287380:N540S	N	+	2	0	WDR67	124207525	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.316000	0.72857	0.903000	0.36546	0.482000	0.46254	AAT		0.328	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		39	99	0	0	0	1	0	39	99				
EDNRB	1910	broad.mit.edu	37	13	78492249	78492249	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr13:78492249C>A	ENST00000334286.5	-	1	696	c.460G>T	c.(460-462)Gac>Tac	p.D154Y	EDNRB_ENST00000377211.4_Missense_Mutation_p.D244Y|EDNRB_ENST00000475537.1_5'Flank|EDNRB_ENST00000446573.1_Missense_Mutation_p.D154Y|RNF219-AS1_ENST00000607862.1_RNA	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	154					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ATAGGGATGTCAATGACGATG	0.507																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(730-732)Gac>Tac		endothelin receptor type B	Bosentan(DB00559)						126.0	119.0	121.0					13																	78492249		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492249C>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.460G>T	13.37:g.78492249C>A	ENSP00000335311:p.Asp154Tyr					EDNRB_ENST00000334286.5_Missense_Mutation_p.D154Y|EDNRB_ENST00000446573.1_Missense_Mutation_p.D154Y	p.D244Y	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	2	882	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	154		T -> M (in dbSNP:rs5350).			A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.730G>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102975	0.94245	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.71461	-0.57;-0.57;-0.57	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.100364	0.64402	D	0.000003	T	0.82084	0.4960	M	0.70903	2.155	0.80722	D	1	D;P;D	0.57899	0.981;0.929;0.958	P;P;P	0.60345	0.859;0.741;0.873	D	0.83872	0.0274	10	0.62326	D	0.03	-17.5976	18.7677	0.91879	0.0:1.0:0.0:0.0	.	154;244;154	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	Y	244;154;154	ENSP00000366416:D244Y;ENSP00000403401:D154Y;ENSP00000335311:D154Y	ENSP00000335311:D154Y	D	-	1	0	EDNRB	77390250	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.445000	0.80570	2.508000	0.84585	0.655000	0.94253	GAC		0.507	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			34	75	1	0	1.57351e-24	1	1.7657e-24	34	75				
HPRT1	3251	broad.mit.edu	37	X	133620520	133620520	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:133620520A>G	ENST00000298556.7	+	4	503	c.344A>G	c.(343-345)aAa>aGa	p.K115R	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	115					adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352)	GGGGACATAAAAGTAATTGGT	0.308																																						ENST00000298556.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(343-345)aAa>aGa		hypoxanthine phosphoribosyltransferase 1	Mercaptopurine(DB01033)|Thioguanine(DB00352)						62.0	55.0	57.0					X																	133620520		2203	4298	6501	SO:0001583	missense	3251				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chrX:133620520A>G	M26434	CCDS14641.1	Xq26.2	2012-10-02	2008-08-01		ENSG00000165704	ENSG00000165704	2.4.2.8		5157	protein-coding gene	gene with protein product	"""Lesch-Nyhan syndrome"""	308000		HPRT		12175903	Standard	NM_000194		Approved	HGPRT	uc004exl.4	P00492	OTTHUMG00000022452	ENST00000298556.7:c.344A>G	X.37:g.133620520A>G	ENSP00000298556:p.Lys115Arg					HPRT1_ENST00000462974.1_3'UTR	p.K115R	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN			4	503	+	Acute lymphoblastic leukemia(192;0.000127)		115					A6NHF0|B2R8M9	Missense_Mutation	SNP	ENST00000298556.7	37	c.344A>G	CCDS14641.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.496692	0.44352	.	.	ENSG00000165704	ENST00000298556;ENST00000370796	D	0.99353	-5.77	5.3	5.3	0.74995	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	N	0.19112	0.55	0.58432	D	0.999998	B	0.02656	0.0	B	0.10450	0.005	D	0.95334	0.8432	10	0.31617	T	0.26	-10.2445	13.2405	0.59994	1.0:0.0:0.0:0.0	.	115	P00492	HPRT_HUMAN	R	115	ENSP00000298556:K115R	ENSP00000298556:K115R	K	+	2	0	HPRT1	133448186	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.117000	0.77129	1.873000	0.54277	0.486000	0.48141	AAA		0.308	HPRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058361.1	NM_000194		11	30	0	0	0	1	0	11	30				
PCDHGC3	5098	broad.mit.edu	37	5	140855787	140855787	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:140855787A>T	ENST00000308177.3	+	1	208	c.104A>T	c.(103-105)tAt>tTt	p.Y35F	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATTCACTATGAGATCCCG	0.587																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(103-105)tAt>tTt									143.0	150.0	148.0					5																	140855787		2203	4300	6503	SO:0001583	missense	5098							g.chr5:140855787A>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.104A>T	5.37:g.140855787A>T	ENSP00000312070:p.Tyr35Phe					PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.Y35F	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	208	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.104A>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224733	0.79576	.	.	ENSG00000240184	ENST00000308177	T	0.53857	0.6	5.65	5.65	0.86999	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.75824	0.3902	M	0.84948	2.725	0.37207	D	0.904626	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.82841	-0.0258	9	0.72032	D	0.01	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	35;35	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	F	35	ENSP00000312070:Y35F	ENSP00000312070:Y35F	Y	+	2	0	PCDHGC3	140835971	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.857000	0.92250	2.371000	0.80710	0.533000	0.62120	TAT		0.587	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		39	81	0	0	0	1	0	39	81				
RP11-782C8.2	0	broad.mit.edu	37	1	143211637	143211639	+	lincRNA	DEL	TTC	TTC	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr1:143211637_143211639delTTC	ENST00000412204.2	-	0	0				RP11-782C8.1_ENST00000438000.1_lincRNA																							TCCTTTCTAATTCTTCTCTATTT	0.286																																						ENST00000438000.1																			0																																																			0							g.chr1:143211637_143211639delTTC																													1.37:g.143211640_143211642delTTC														0	59	+									RNA	DEL	ENST00000412204.2	37																																																																																						0.286	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			8	20						8	20	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452464	43452465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:43452464_43452465insG	ENST00000282388.3	-	2	771_772	c.478_479insC	c.(478-480)cggfs	p.R160fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	160					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCGAAGGGCCGGCACAGCTCG	0.649																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(478-480)gccfs		ZFP36 ring finger protein-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452464_43452465insG	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.479dupC	2.37:g.43452466_43452466dupG	ENSP00000282388:p.Arg160fs					THADA_ENST00000330266.7_Intron	p.A160fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	771_772	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	160					Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.478_479insC	CCDS1811.1																																																																																				0.649	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		14	32						14	32	---	---	---	---
DYNC1I2	1781	broad.mit.edu	37	2	172569318	172569319	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr2:172569318_172569319insC	ENST00000397119.3	+	6	544_545	c.377_378insC	c.(376-381)cactcafs	p.S127fs	DYNC1I2_ENST00000410079.3_Intron|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.S127fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.S121fs|DYNC1I2_ENST00000534253.2_Frame_Shift_Ins_p.S127fs|DYNC1I2_ENST00000340296.4_Intron|AC068039.1_ENST00000598148.1_5'Flank|DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.S127fs|DYNC1I2_ENST00000358002.6_Intron|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.S121fs|DYNC1I2_ENST00000409197.1_Intron	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	127					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CTTCAGCTTCACTCAGATTCCG	0.361																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(376-378)ctcfs		dynein, cytoplasmic 1, intermediate chain 2																																				SO:0001589	frameshift_variant	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172569318_172569319insC	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.378dupC	2.37:g.172569319_172569319dupC	ENSP00000380308:p.Ser127fs					DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.L120fs|DYNC1I2_ENST00000410079.3_Intron|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.L120fs|DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000397119.3_Frame_Shift_Ins_p.L126fs|DYNC1I2_ENST00000358002.6_Intron|DYNC1I2_ENST00000340296.4_Intron	p.L126fs			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		6	545_546	+			126					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Frame_Shift_Ins	INS	ENST00000397119.3	37	c.377_378insC	CCDS46450.1																																																																																				0.361	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		47	129						47	129	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153332540	153332558	+	Frame_Shift_Del	DEL	TGTGTATGTTCATCTTCTC	TGTGTATGTTCATCTTCTC	-	rs61748169	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr4:153332540_153332558delTGTGTATGTTCATCTTCTC	ENST00000281708.4	-	2	1627_1645	c.398_416delGAGAAGATGAACATACACA	c.(397-417)agagaagatgaacatacacatfs	p.REDEHTH133fs	FBXW7_ENST00000604872.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.REDEHTH133fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	133			R -> G (in dbSNP:rs6842544).		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.H139N(2)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTGTTAGTATGTGTATGTTCATCTTCTCTGCTACTATC	0.434			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		2	Substitution - Missense(2)	p.H139N(2)	endometrium(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(397-417)atfs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153332540_153332558delTGTGTATGTTCATCTTCTC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.398_416delGAGAAGATGAACATACACA	4.37:g.153332540_153332558delTGTGTATGTTCATCTTCTC	ENSP00000281708:p.Arg133fs					FBXW7_ENST00000603548.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000604872.1_Frame_Shift_Del_p.REDEHTH133fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.REDEHTH133fs	p.REDEHTH133fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			2	1627_1645	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	133		R -> G (in dbSNP:rs6842544).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	ENST00000281708.4	37	c.398_416delGAGAAGATGAACATACACA	CCDS3777.1																																																																																				0.434	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			16	68						16	68	---	---	---	---
HNRNPH1	3187	broad.mit.edu	37	5	179046282	179046286	+	Frame_Shift_Del	DEL	CTTTC	CTTTC	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr5:179046282_179046286delCTTTC	ENST00000356731.5	-	4	2055_2059	c.520_524delGAAAG	c.(520-525)gaaagafs	p.ER174fs	HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000442819.2_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000393432.4_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000329433.6_Frame_Shift_Del_p.ER174fs			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	174	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						GTGCCCTATTCTTTCCTTGTGTTTC	0.429																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(520-525)afs		heterogeneous nuclear ribonucleoprotein H1 (H)																																				SO:0001589	frameshift_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179046282_179046286delCTTTC	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.520_524delGAAAG	5.37:g.179046282_179046286delCTTTC	ENSP00000349168:p.Glu174fs					HNRNPH1_ENST00000510411.1_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000329433.6_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000442819.2_Frame_Shift_Del_p.ER174fs|HNRNPH1_ENST00000393432.4_Frame_Shift_Del_p.ER174fs	p.ER174fs			P31943	HNRH1_HUMAN			4	2055_2059	-			174			RRM 2.		B3KW86|D3DWQ2|Q6IBM4	Frame_Shift_Del	DEL	ENST00000356731.5	37	c.520_524delGAAAG	CCDS4446.1																																																																																				0.429	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		58	262						58	262	---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149925823	149925824	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr6:149925823_149925824delTA	ENST00000335647.5	-	4	640_641	c.596_597delTA	c.(595-597)atafs	p.I200fs	KATNA1_ENST00000367411.2_Frame_Shift_Del_p.I200fs|KATNA1_ENST00000335643.8_Intron|KATNA1_ENST00000494504.1_5'UTR					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TCTGGGAAATTATATCTCTTTC	0.371																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(595-597)afs		katanin p60 (ATPase containing) subunit A 1																																				SO:0001589	frameshift_variant	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149925823_149925824delTA	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.596_597delTA	6.37:g.149925825_149925826delTA	ENSP00000335106:p.Ile200fs					KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Intron|KATNA1_ENST00000335647.5_Frame_Shift_Del_p.I200fs	p.I200fs	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	5	854_855	-		Ovarian(120;0.0164)	200						Frame_Shift_Del	DEL	ENST00000335647.5	37	c.596_597delTA	CCDS5217.1																																																																																				0.371	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		36	104						36	104	---	---	---	---
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337																																						ENST00000451381.1																			0																																																			0							g.chr7:62701951_62701952insA																													7.37:g.62701957_62701957dupA														0	55	-									RNA	INS	ENST00000451381.1	37																																																																																						0.337	RP5-905H7.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000343675.1			2	4						2	4	---	---	---	---
DUSP8	1850	broad.mit.edu	37	11	1585103	1585103	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr11:1585103delG	ENST00000397374.3	-	3	475	c.348delC	c.(346-348)ttcfs	p.F116fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.F116fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	116	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCACGCTGTCGAAGCAGCCGT	0.672																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(346-348)ttfs		dual specificity phosphatase 8							34.0	27.0	29.0					11																	1585103		2165	4264	6429	SO:0001589	frameshift_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1585103delG		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.348delC	11.37:g.1585103delG	ENSP00000380530:p.Phe116fs					DUSP8_ENST00000331588.4_Frame_Shift_Del_p.F116fs	p.F116fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	3	475	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	116			Rhodanese.		Q86SS8	Frame_Shift_Del	DEL	ENST00000397374.3	37	c.348delC	CCDS7724.1																																																																																				0.672	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		2	4						2	4	---	---	---	---
DNAJC14	85406	broad.mit.edu	37	12	56222200	56222201	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr12:56222200_56222201insG	ENST00000357606.3	-	3	531_532	c.242_243insC	c.(241-243)ccafs	p.P81fs	DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.P81fs|TMEM198B_ENST00000478241.1_RNA|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.P81fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	81					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TAGGTGGTCCTGGACCCCCTGG	0.559																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(241-243)cggfs		DnaJ (Hsp40) homolog, subfamily C, member 14																																				SO:0001589	frameshift_variant	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222200_56222201insG	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.243dupC	12.37:g.56222202_56222202dupG	ENSP00000350223:p.Pro81fs					DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R81fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R81fs	p.R81fs			Q6Y2X3	DJC14_HUMAN			3	531_532	-			81					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Frame_Shift_Ins	INS	ENST00000357606.3	37	c.242_243insC	CCDS8894.1																																																																																				0.559	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		76	188						76	188	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23450686	23450687	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr14:23450686_23450687insAG	ENST00000262713.2	-	1	1164_1165	c.789_790insCT	c.(787-792)tctgtgfs	p.V264fs	RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.V264fs	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	264	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TAGCCGGTCACAGAGTGTCGTC	0.728																																						ENST00000262713.2																			0											c.(787-792)tctgacfs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450686_23450687insAG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.788_789dupCT	14.37:g.23450689_23450690dupAG	ENSP00000262713:p.Val264fs					AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.D264fs|RP11-298I3.5_ENST00000555074.1_Intron	p.D264fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	1164_1165	-			264			PreLIM.		A8MX18|D3DS37	Frame_Shift_Ins	INS	ENST00000262713.2	37	c.789_790insCT	CCDS9581.1																																																																																				0.728	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			14	11						14	11	---	---	---	---
UPF3AP2	147150	broad.mit.edu	37	17	20279655	20279655	+	RNA	DEL	T	T	-	rs200407551|rs530996042	byFrequency	TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:20279655delT	ENST00000578315.1	-	0	51									UPF3A pseudogene 2																		tctgtctctcttttttttttt	0.383														1002	0.20008	0.264	0.1715	5008	,	,		16984	0.1964		0.175	False		,,,				2504	0.1636					ENST00000578315.1																			0																																																			147150							g.chr17:20279655delT			17p11.2	2013-09-13	2013-09-13			ENSG00000214832			30567	pseudogene	pseudogene			"""UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2"""			11997339	Standard	NG_001546		Approved						17.37:g.20279655delT														0	51	-									RNA	DEL	ENST00000578315.1	37																																																																																						0.383	UPF3AP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443627.1	NG_001546		2	4						2	4	---	---	---	---
COX11	1353	broad.mit.edu	37	17	53042103	53042104	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr17:53042103_53042104insTG	ENST00000299335.3	-	2	614_615	c.476_477insCA	c.(475-477)catfs	p.H159fs	COX11_ENST00000571584.1_Frame_Shift_Ins_p.H159fs	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	159					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGACTTGCATGCACATCTGC	0.361																																						ENST00000299335.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						c.(475-477)cgcfs		cytochrome c oxidase assembly homolog 11 (yeast)																																				SO:0001589	frameshift_variant	1353				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity	g.chr17:53042103_53042104insTG	AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"""Mitochondrial respiratory chain complex assembly factors"""	2261	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit 11"", ""cytochrome c oxidase assembly protein COX11"""	603648	"""COX11 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX11 cytochrome c oxidase assembly homolog (yeast)"""			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.475_476dupCA	17.37:g.53042104_53042105dupTG	ENSP00000299335:p.His159fs					COX11_ENST00000571584.1_Frame_Shift_Ins_p.R159fs	p.R159fs	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN			2	614_615	-			159					D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Frame_Shift_Ins	INS	ENST00000299335.3	37	c.476_477insCA	CCDS11583.1																																																																																				0.361	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		35	105						35	105	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39006732	39006732	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr19:39006732delG	ENST00000359596.3	+	65	9560	c.9560delG	c.(9559-9561)cggfs	p.R3187fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.R3187fs|RYR1_ENST00000355481.4_Frame_Shift_Del_p.R3187fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3187					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCAGGCTTCGGCCAGCCCTC	0.657																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9559-9561)cgfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						10.0	9.0	9.0					19																	39006732		2040	3950	5990	SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39006732delG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9560delG	19.37:g.39006732delG	ENSP00000352608:p.Arg3187fs					RYR1_ENST00000359596.3_Frame_Shift_Del_p.R3187fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.R3187fs	p.R3187fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		65	9691	+	all_cancers(60;7.91e-06)		3187					Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Del	DEL	ENST00000359596.3	37	c.9560delG	CCDS33011.1																																																																																				0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			2	4						2	4	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30038273	30038299	+	Splice_Site	DEL	AGGTAGGCTCAAAGAAGAAAAATGTAT	AGGTAGGCTCAAAGAAGAAAAATGTAT	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chr22:30038273_30038299delAGGTAGGCTCAAAGAAGAAAAATGTAT	ENST00000338641.4	+	4	887_888	c.446_447delAGGTAGGCTCAAAGAAGAAAAATGTAT	c.(445-447)aag>a	p.K149del	NF2_ENST00000361452.4_Splice_Site_p.K108del|NF2_ENST00000361166.4_Splice_Site_p.K149del|NF2_ENST00000334961.7_Splice_Site_p.K66del|NF2_ENST00000347330.5_Splice_Site_p.K66del|NF2_ENST00000397789.3_Splice_Site_p.K149del|NF2_ENST00000403999.3_Splice_Site_p.K149del|NF2_ENST00000353887.4_Splice_Site_p.K66del|NF2_ENST00000361676.4_Splice_Site_p.K107del|NF2_ENST00000403435.1_Splice_Site_p.K149del|NF2_ENST00000413209.2_Splice_Site_p.K149del	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	149	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V122_K149del(5)|p.?(5)|p.K149N(1)|p.K149fs*25(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGG	0.449			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		13	Unknown(5)|Deletion - In frame(5)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.V122_K149del(5)|p.?(5)|p.K149N(1)|p.K149fs*25(1)|p.K123fs*2(1)	soft_tissue(8)|meninges(3)|large_intestine(1)|stomach(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776	GRCh37	CS004503|CS005418|CS045483|CS045484|CS070393	NF2	S		c.e4+1		neurofibromin 2 (merlin)																																				SO:0001630	splice_region_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30038273_30038299delAGGTAGGCTCAAAGAAGAAAAATGTAT	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.447+1AGGTAGGCTCAAAGAAGAAAAATGTAT>-	22.37:g.30038273_30038299delAGGTAGGCTCAAAGAAGAAAAATGTAT						NF2_ENST00000361452.4_Splice_Site_p.108_splice|NF2_ENST00000403999.3_Splice_Site_p.149_splice|NF2_ENST00000397789.3_Splice_Site_p.149_splice|NF2_ENST00000353887.4_Splice_Site_p.66_splice|NF2_ENST00000403435.1_Splice_Site_p.149_splice|NF2_ENST00000361676.4_Splice_Site_p.107_splice|NF2_ENST00000347330.5_Splice_Site_p.66_splice|NF2_ENST00000334961.7_Splice_Site_p.66_splice|NF2_ENST00000361166.4_Splice_Site_p.149_splice|NF2_ENST00000413209.2_Splice_Site_p.149_splice	p.149_splice	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			4	887_888	+			149			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	DEL	ENST00000338641.4	37	c.447_splice	CCDS13861.1																																																																																				0.449	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	In_Frame_Del	7	61						7	61	---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69519024	69519024	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-A6UO-01A-12D-A34J-08	TCGA-BB-A6UO-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52ea34af-b9b8-46bd-9aac-41a42256c53c	842d2bd9-deaa-48e8-9a03-5ed8c075944f	g.chrX:69519024delT	ENST00000374403.3	+	5	570	c.488delT	c.(487-489)atafs	p.I163fs	KIF4A_ENST00000374388.3_Frame_Shift_Del_p.I163fs	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	163	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAAATAAATATACGAGAGGAT	0.308																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(487-489)aafs		kinesin family member 4A							87.0	78.0	81.0					X																	69519024		2203	4300	6503	SO:0001589	frameshift_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69519024delT	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.488delT	X.37:g.69519024delT	ENSP00000363524:p.Ile163fs					KIF4A_ENST00000374388.3_Frame_Shift_Del_p.I163fs	p.I163fs	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			5	570	+			163			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Frame_Shift_Del	DEL	ENST00000374403.3	37	c.488delT	CCDS14401.1																																																																																				0.308	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		27	70						27	70	---	---	---	---
