#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
NLRP4	147945	broad.mit.edu	37	19	56369263	56369263	+	Silent	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr19:56369263G>A	ENST00000301295.6	+	3	926	c.504G>A	c.(502-504)ctG>ctA	p.L168L	NLRP4_ENST00000587891.1_Silent_p.L93L|NLRP4_ENST00000346986.5_Silent_p.L168L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	168	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGATGAAGCTGATGATGGCCT	0.502																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(502-504)ctG>ctA		NLR family, pyrin domain containing 4							127.0	116.0	119.0					19																	56369263		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369263G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.504G>A	19.37:g.56369263G>A						NLRP4_ENST00000346986.5_Silent_p.L168L|NLRP4_ENST00000587891.1_Silent_p.L93L	p.L168L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	926	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	168			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.504G>A	CCDS12936.1																																																																																				0.502	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		28	58	0	0	0	1	0	28	58				
NUP50	10762	broad.mit.edu	37	22	45574145	45574145	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr22:45574145A>G	ENST00000347635.4	+	5	833	c.367A>G	c.(367-369)Acc>Gcc	p.T123A	NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.T95A|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.T95A|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	123	5 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)|intracellular transport (GO:0046907)|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 membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T123A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGCCCTACCACCTTGGTTGA	0.403																																						ENST00000347635.3																			1	Substitution - Missense(1)	p.T123A(1)	skin(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(367-369)Acc>Gcc		nucleoporin 50kDa							70.0	69.0	69.0					22																	45574145		2203	4300	6503	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45574145A>G	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.367A>G	22.37:g.45574145A>G	ENSP00000345895:p.Thr123Ala					NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.T95A|NUP50_ENST00000396096.2_Missense_Mutation_p.T95A	p.T123A	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	833	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	123			5 X 2 AA repeats of F-G.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.367A>G	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	G	0.204	-1.042164	0.01997	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000396096	.	.	.	5.46	-6.61	0.01818	Nuclear pore complex, NUP2/50/61 (1);	1.214170	0.05550	N	0.567335	T	0.23572	0.0570	L	0.36672	1.1	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.24657	-1.0154	9	0.09338	T	0.73	-0.2565	3.9641	0.09423	0.2425:0.1011:0.4317:0.2247	.	123	Q9UKX7	NUP50_HUMAN	A	123;95;95	.	ENSP00000345895:T123A	T	+	1	0	NUP50	43952809	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.532000	0.06164	-1.798000	0.01250	-5.607000	0.00000	ACC		0.403	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			5	108	0	0	0	1	0	5	108				
MERTK	10461	broad.mit.edu	37	2	112686863	112686863	+	Silent	SNP	A	A	T			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr2:112686863A>T	ENST00000295408.4	+	2	485	c.228A>T	c.(226-228)ggA>ggT	p.G76G	MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Silent_p.G76G|RN7SL297P_ENST00000483161.2_RNA			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	76					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACATACAGGAAACGTAGCCA	0.507																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(226-228)ggA>ggT		c-mer proto-oncogene tyrosine kinase							109.0	88.0	95.0					2																	112686863		2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112686863A>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.228A>T	2.37:g.112686863A>T						MERTK_ENST00000421804.2_Silent_p.G76G|MERTK_ENST00000409780.1_Intron	p.G76G			Q12866	MERTK_HUMAN			2	485	+			76					Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.228A>T	CCDS2094.1																																																																																				0.507	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			18	16	0	0	0	1	0	18	16				
MATR3	9782	broad.mit.edu	37	5	138651823	138651823	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr5:138651823C>T	ENST00000394805.3	+	5	1410	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	MATR3_ENST00000509990.1_Missense_Mutation_p.P359S|MATR3_ENST00000503811.1_Missense_Mutation_p.P71S|MATR3_ENST00000502499.1_Missense_Mutation_p.P21S|MATR3_ENST00000504203.1_Missense_Mutation_p.P21S|MATR3_ENST00000394800.2_Missense_Mutation_p.P359S|MATR3_ENST00000510056.1_Missense_Mutation_p.P359S|MATR3_ENST00000502929.1_Missense_Mutation_p.P359S|MATR3_ENST00000361059.2_Missense_Mutation_p.P359S	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	359					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTGGGACCTCCACCTCCCTC	0.413																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1075-1077)Cca>Tca		matrin 3							103.0	107.0	105.0					5																	138651823		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138651823C>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1075C>T	5.37:g.138651823C>T	ENSP00000378284:p.Pro359Ser					MATR3_ENST00000502499.1_Missense_Mutation_p.P21S|MATR3_ENST00000361059.2_Missense_Mutation_p.P359S|MATR3_ENST00000503811.1_Missense_Mutation_p.P71S|MATR3_ENST00000502929.1_Missense_Mutation_p.P359S|MATR3_ENST00000394805.3_Missense_Mutation_p.P359S|MATR3_ENST00000504203.1_Missense_Mutation_p.P21S|MATR3_ENST00000509990.1_Missense_Mutation_p.P359S|MATR3_ENST00000510056.1_Missense_Mutation_p.P359S	p.P359S			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1624	+			359					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.1075C>T	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571988	0.86542	.	.	ENSG00000015479	ENST00000509990;ENST00000506147;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000509644;ENST00000394805;ENST00000512876;ENST00000513678;ENST00000504045;ENST00000504311;ENST00000502499;ENST00000510056;ENST00000503811;ENST00000514528	T;T;T;T;T;T;T;T;T;T;T;T	0.77750	-0.73;-0.73;-0.27;-0.76;-0.76;-0.73;-1.11;-1.08;-1.12;-0.27;-0.75;-0.09	5.83	5.83	0.93111	.	0.115665	0.64402	D	0.000014	T	0.81833	0.4906	N	0.24115	0.695	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	0.993;1.0;0.993;1.0;0.987;1.0	D;D;D;D;D;D	0.79108	0.968;0.992;0.968;0.992;0.953;0.992	T	0.80018	-0.1558	10	0.33940	T	0.23	-5.5704	20.1162	0.97934	0.0:1.0:0.0:0.0	.	71;359;71;359;359;359	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243	.;.;.;.;.;MATR3_HUMAN	S	359;59;359;21;359;359;21;359;21;21;359;21;21;359;71;95	ENSP00000423533:P359S;ENSP00000354346:P359S;ENSP00000421218:P21S;ENSP00000422319:P359S;ENSP00000378279:P359S;ENSP00000378284:P359S;ENSP00000425150:P21S;ENSP00000423290:P359S;ENSP00000422700:P21S;ENSP00000426030:P21S;ENSP00000426743:P359S;ENSP00000423587:P71S	ENSP00000354346:P359S	P	+	1	0	MATR3	138679722	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	3.996000	0.57009	2.757000	0.94681	0.563000	0.77884	CCA		0.413	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		26	69	0	0	0	1	0	26	69				
KLHDC3	116138	broad.mit.edu	37	6	42987098	42987098	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr6:42987098A>G	ENST00000326974.4	+	10	1271	c.1076A>G	c.(1075-1077)gAt>gGt	p.D359G	KLHDC3_ENST00000244670.8_Missense_Mutation_p.D225G|KLHDC3_ENST00000332245.8_Missense_Mutation_p.D300G|RRP36_ENST00000244496.5_5'Flank	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	359					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTGCCTCATGATATCAGGTAC	0.498																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1075-1077)gAt>gGt		kelch domain containing 3							227.0	222.0	223.0					6																	42987098		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42987098A>G	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.1076A>G	6.37:g.42987098A>G	ENSP00000313995:p.Asp359Gly					KLHDC3_ENST00000332245.8_Missense_Mutation_p.D300G|KLHDC3_ENST00000244670.8_Missense_Mutation_p.D225G	p.D359G	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		10	1271	+			359					A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.1076A>G	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355806	0.41700	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.17213	3.1;2.29;3.1	5.17	5.17	0.71159	.	0.642296	0.13832	N	0.359658	T	0.11410	0.0278	L	0.51422	1.61	0.50313	D	0.999863	B;P;P;P	0.40476	0.074;0.534;0.718;0.546	B;B;B;B	0.38500	0.013;0.133;0.275;0.101	T	0.03898	-1.0994	10	0.59425	D	0.04	-8.3896	15.3285	0.74186	1.0:0.0:0.0:0.0	.	359;300;225;359	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	G	359;359;225;359;332;300	ENSP00000313995:D359G;ENSP00000244670:D225G;ENSP00000331562:D300G	ENSP00000244670:D225G	D	+	2	0	KLHDC3	43095076	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.350000	0.79385	2.087000	0.62958	0.260000	0.18958	GAT		0.498	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		76	84	0	0	0	1	0	76	84				
OTOP3	347741	broad.mit.edu	37	17	72937759	72937759	+	Silent	SNP	C	C	T			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr17:72937759C>T	ENST00000328801.4	+	2	345	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	115						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					ACAAGGTGGCCGTCACTCTGG	0.602																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(343-345)gcC>gcT		otopetrin 3							80.0	65.0	70.0					17																	72937759		2203	4300	6503	SO:0001819	synonymous_variant	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937759C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.345C>T	17.37:g.72937759C>T							p.A115A	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			2	345	+	all_lung(278;0.151)|Lung NSC(278;0.185)		115						Silent	SNP	ENST00000328801.4	37	c.345C>T	CCDS11709.1																																																																																				0.602	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		22	35	0	0	0	1	0	22	35				
ZACN	353174	broad.mit.edu	37	17	74075788	74075788	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr17:74075788C>G	ENST00000334586.5	+	3	311	c.228C>G	c.(226-228)atC>atG	p.I76M	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	76					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CCCAGGACATCCTGCGATACA	0.582																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(226-228)atC>atG		zinc activated ligand-gated ion channel							118.0	94.0	102.0					17																	74075788		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74075788C>G	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.228C>G	17.37:g.74075788C>G	ENSP00000334854:p.Ile76Met					ZACN_ENST00000392503.2_Intron	p.I76M	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			3	311	+			76					Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.228C>G	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591650	0.66219	.	.	ENSG00000186919	ENST00000334586	T	0.77620	-1.11	4.35	4.35	0.52113	Neurotransmitter-gated ion-channel ligand-binding (3);	0.423554	0.21207	N	0.078376	D	0.85133	0.5627	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83606	0.0131	10	0.35671	T	0.21	-35.09	12.2419	0.54546	0.0:1.0:0.0:0.0	.	76	Q401N2	ZACN_HUMAN	M	76	ENSP00000334854:I76M	ENSP00000334854:I76M	I	+	3	3	ZACN	71587383	0.993000	0.37304	0.998000	0.56505	0.958000	0.62258	2.321000	0.43805	2.251000	0.74343	0.462000	0.41574	ATC		0.582	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		4	45	0	0	0	1	0	4	45				
USP34	9736	broad.mit.edu	37	2	61486850	61486850	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr2:61486850A>G	ENST00000398571.2	-	44	5916	c.5840T>C	c.(5839-5841)tTa>tCa	p.L1947S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1947	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATACCATTAAATATGTAAA	0.408																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(5839-5841)tTa>tCa		ubiquitin specific peptidase 34							70.0	66.0	67.0					2																	61486850		1866	4095	5961	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61486850A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5840T>C	2.37:g.61486850A>G	ENSP00000381577:p.Leu1947Ser						p.L1947S	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		44	5916	-			1947					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.5840T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615733	0.87359	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.09073	3.02;3.02	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.37892	0.1020	M	0.91459	3.21	0.58432	D	0.99999	D	0.76494	0.999	D	0.91635	0.999	T	0.48906	-0.8993	10	0.87932	D	0	.	15.6055	0.76668	1.0:0.0:0.0:0.0	.	1947	Q70CQ2	UBP34_HUMAN	S	1795;1795;1947;225	ENSP00000381577:L1947S;ENSP00000410559:L225S	ENSP00000263989:L1795S	L	-	2	0	USP34	61340354	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.996000	0.76263	2.152000	0.67230	0.533000	0.62120	TTA		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			25	29	0	0	0	1	0	25	29				
UCKL1	54963	broad.mit.edu	37	20	62571398	62571398	+	Silent	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr20:62571398G>A	ENST00000354216.6	-	15	1620	c.1578C>T	c.(1576-1578)ggC>ggT	p.G526G	UCKL1_ENST00000369908.5_Silent_p.G511G|UCKL1_ENST00000358711.3_3'UTR|MIR1914_ENST00000607800.1_RNA|UCKL1_ENST00000369892.3_Silent_p.G526G|MIR647_ENST00000384823.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	526					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGTAGCGGTCGCCAAAGTTCC	0.682																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1531-1533)ggC>ggT		uridine-cytidine kinase 1-like 1							25.0	24.0	24.0					20																	62571398		2192	4290	6482	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571398G>A	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1578C>T	20.37:g.62571398G>A						UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.G526G|UCKL1_ENST00000369892.3_Silent_p.G526G	p.G511G	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			15	1832	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		526					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1533C>T	CCDS13547.1																																																																																				0.682	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		3	27	0	0	0	1	0	3	27				
ESX1	80712	broad.mit.edu	37	X	103495314	103495314	+	Silent	SNP	G	G	T			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chrX:103495314G>T	ENST00000372588.4	-	4	899	c.816C>A	c.(814-816)ccC>ccA	p.P272P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	272	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CAGGCGCcatgggtggcatag	0.687																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(814-816)ccC>ccA		ESX homeobox 1							64.0	63.0	63.0					X																	103495314		2203	4300	6503	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495314G>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.816C>A	X.37:g.103495314G>T							p.P272P	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	899	-			272			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.816C>A	CCDS14516.1																																																																																				0.687	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		54	58	1	0	6.56871e-35	1	7.20439e-35	54	58				
REPIN1	29803	broad.mit.edu	37	7	150066802	150066802	+	5'UTR	SNP	T	T	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr7:150066802T>A	ENST00000397281.2	+	0	195				RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_5'UTR|REPIN1_ENST00000489432.2_Start_Codon_SNP_p.M1K|REPIN1_ENST00000518514.1_Intron|REPIN1_ENST00000518462.1_Intron|REPIN1_ENST00000482680.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000425389.2_5'Flank|REPIN1_ENST00000479668.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000444957.1_Intron|REPIN1_ENST00000466559.1_Intron	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1						DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTCTGCCATGGGGATAGGG	0.587																																						ENST00000479668.1																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1-3)aTg>aAg		replication initiator 1							56.0	62.0	60.0					7																	150066802		1943	4136	6079	SO:0001623	5_prime_UTR_variant	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150066802T>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000397281.2:c.-295T>A	7.37:g.150066802T>A						REPIN1_ENST00000466559.1_Intron|REPIN1_ENST00000518514.1_Intron|REPIN1_ENST00000397281.2_5'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000482680.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000489432.2_Start_Codon_SNP_p.M1K|REPIN1_ENST00000540729.1_5'UTR|REPIN1_ENST00000518462.1_Intron|REPIN1_ENST00000444957.1_Intron	p.M1K			Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		2	90	+	Ovarian(565;0.183)|Melanoma(164;0.226)		0					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Translation_Start_Site	SNP	ENST00000397281.2	37	c.2T>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299878	0.60195	.	.	ENSG00000214022	ENST00000479668;ENST00000489432;ENST00000482680;ENST00000461637	T	0.07908	3.15	3.93	2.78	0.32641	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.80722	D	1	B	0.25105	0.118	B	0.19391	0.025	T	0.18713	-1.0328	8	0.87932	D	0	.	5.9846	0.19426	0.0:0.1162:0.0:0.8838	.	1	C9J3L7	.	K	1	ENSP00000417291:M1K	ENSP00000417756:M1K	M	+	2	0	REPIN1	149697735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.870000	0.28010	0.874000	0.35823	0.482000	0.46254	ATG		0.587	REPIN1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_014374		30	21	0	0	0	1	0	30	21				
AHNAK2	113146	broad.mit.edu	37	14	105409427	105409427	+	Silent	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.587																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12361-12363)Ctg>Ttg		AHNAK nucleoprotein 2							247.0	258.0	254.0					14																	105409427		2014	4154	6168	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409427G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12361C>T	14.37:g.105409427G>A						AHNAK2_ENST00000557457.1_Intron	p.L4121L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12480	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4121					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12361C>T	CCDS45177.1																																																																																				0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	520	0	0	0	1	0	6	520				
OBSCN	84033	broad.mit.edu	37	1	228547476	228547476	+	Intron	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr1:228547476G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.G6295S|OBSCN_ENST00000366709.4_Missense_Mutation_p.G3414S|OBSCN_ENST00000570156.2_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCAGAACCAGGCCAGAAGCC	0.706																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18883-18885)Ggc>Agc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							12.0	14.0	14.0					1																	228547476		2013	4180	6193	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547476G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2801G>A	1.37:g.228547476G>A						OBSCN_ENST00000366709.4_Missense_Mutation_p.G3414S|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron	p.G6295S			Q5VST9	OBSCN_HUMAN			81	18957	+		Prostate(94;0.0405)	7118					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18883G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654675	0.29425	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.55052	0.54;0.69	4.56	4.56	0.56223	.	.	.	.	.	T	0.44623	0.1302	M	0.63428	1.95	0.09310	N	1	B	0.33583	0.418	B	0.30855	0.121	T	0.35674	-0.9779	9	0.09084	T	0.74	.	10.3689	0.44042	0.0904:0.0:0.9096:0.0	.	6295	Q5VST9-3	.	S	6295;3414	ENSP00000284548:G6295S;ENSP00000355670:G3414S	ENSP00000284548:G6295S	G	+	1	0	OBSCN	226614099	0.001000	0.12720	0.093000	0.20910	0.065000	0.16274	0.663000	0.25053	2.379000	0.81126	0.556000	0.70494	GGC		0.706	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		13	8	0	0	0	1	0	13	8				
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T	rs200953619		TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr18:15323276A>T	ENST00000455308.2	-	0	572				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308																																						ENST00000455308.2																			0																																																			644669							g.chr18:15323276A>T																													18.37:g.15323276A>T								NR_027417.1						0	572	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			4	23	0	0	0	1	0	4	23				
SLC26A9	115019	broad.mit.edu	37	1	205884502	205884502	+	Missense_Mutation	SNP	T	T	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr1:205884502T>G	ENST00000367135.3	-	21	2472	c.2359A>C	c.(2359-2361)Acc>Ccc	p.T787P	SLC26A9_ENST00000340781.4_Missense_Mutation_p.T787P|SLC26A9_ENST00000367134.2_Missense_Mutation_p.T787P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	787					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCGGTCAGGGTCTCTGCGTGA	0.592																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(2359-2361)Acc>Ccc		solute carrier family 26 (anion exchanger), member 9							107.0	98.0	101.0					1																	205884502		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205884502T>G	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2359A>C	1.37:g.205884502T>G	ENSP00000356103:p.Thr787Pro					SLC26A9_ENST00000340781.4_Missense_Mutation_p.T787P|SLC26A9_ENST00000367134.2_Missense_Mutation_p.T787P	p.T787P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		21	2472	-	Breast(84;0.201)		787					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.2359A>C	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577974	0.86645	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93763	-3.28;-3.19;-3.28	5.44	5.44	0.79542	.	0.171322	0.40302	N	0.001126	D	0.93086	0.7799	L	0.29908	0.895	0.41389	D	0.9876	D;P	0.64830	0.994;0.917	P;B	0.59288	0.855;0.353	D	0.93670	0.6989	10	0.52906	T	0.07	.	14.3224	0.66496	0.0:0.0:0.0:1.0	.	787;787	Q7LBE3;B1AVM8	S26A9_HUMAN;.	P	787	ENSP00000341682:T787P;ENSP00000356103:T787P;ENSP00000356102:T787P	ENSP00000341682:T787P	T	-	1	0	SLC26A9	204151125	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.686000	0.46968	2.062000	0.61559	0.379000	0.24179	ACC		0.592	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		34	95	0	0	0	1	0	34	95				
SCN5A	6331	broad.mit.edu	37	3	38639331	38639331	+	Silent	SNP	C	C	T	rs191840835		TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr3:38639331C>T	ENST00000333535.4	-	14	2300	c.2151G>A	c.(2149-2151)ccG>ccA	p.P717P	SCN5A_ENST00000450102.2_Silent_p.P717P|SCN5A_ENST00000449557.2_Silent_p.P717P|SCN5A_ENST00000425664.1_Silent_p.P717P|SCN5A_ENST00000451551.2_Silent_p.P717P|SCN5A_ENST00000413689.1_Silent_p.P717P|SCN5A_ENST00000414099.2_Silent_p.P717P|SCN5A_ENST00000423572.2_Silent_p.P717P|SCN5A_ENST00000455624.2_Silent_p.P717P|SCN5A_ENST00000443581.1_Silent_p.P717P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	717					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCAGTAAACGGGTCCATGA	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		22591	0.001		0.0	False		,,,				2504	0.0					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2149-2151)ccG>ccA		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						154.0	157.0	156.0					3																	38639331		2153	4265	6418	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639331C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2151G>A	3.37:g.38639331C>T						SCN5A_ENST00000423572.2_Silent_p.P717P|SCN5A_ENST00000414099.2_Silent_p.P717P|SCN5A_ENST00000451551.2_Silent_p.P717P|SCN5A_ENST00000450102.2_Silent_p.P717P|SCN5A_ENST00000449557.2_Silent_p.P717P|SCN5A_ENST00000443581.1_Silent_p.P717P|SCN5A_ENST00000333535.4_Silent_p.P717P|SCN5A_ENST00000425664.1_Silent_p.P717P|SCN5A_ENST00000455624.2_Silent_p.P717P	p.P717P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2344	-	Medulloblastoma(35;0.163)		717					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.2151G>A	CCDS46796.1																																																																																				0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		29	12	0	0	0	1	0	29	12				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L50P(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(148-150)cTt>cCt																																						SO:0001583	missense	284802							g.chr20:29625905T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P	p.L50P							5	529	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	116	0	0	0	1	0	6	116				
MYOM2	9172	broad.mit.edu	37	8	2046698	2046698	+	Silent	SNP	G	G	A			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr8:2046698G>A	ENST00000262113.4	+	19	2466	c.2325G>A	c.(2323-2325)ttG>ttA	p.L775L	MYOM2_ENST00000523438.1_Silent_p.L200L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	775	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGGACGGCTTGACGGAAGGCT	0.507																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2323-2325)ttG>ttA		myomesin 2							41.0	39.0	40.0					8																	2046698		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2046698G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2325G>A	8.37:g.2046698G>A						MYOM2_ENST00000523438.1_Silent_p.L200L	p.L775L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	19	2466	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	775			Fibronectin type-III 4.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.2325G>A	CCDS5957.1																																																																																				0.507	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		16	24	0	0	0	1	0	16	24				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000567960.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																197331							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000564451.1_RNA								0	1198	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	106	0	0	0	1	0	5	106				
BOD1L1	259282	broad.mit.edu	37	4	13601677	13601677	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr4:13601677G>C	ENST00000040738.5	-	10	6982	c.6847C>G	c.(6847-6849)Cca>Gca	p.P2283A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2283						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTTCCGCTGGTGTGACTGAG	0.562																																						ENST00000040738.5																			0											c.(6847-6849)Cca>Gca		biorientation of chromosomes in cell division 1-like 1							63.0	55.0	57.0					4																	13601677		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601677G>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6847C>G	4.37:g.13601677G>C	ENSP00000040738:p.Pro2283Ala						p.P2283A	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6982	-			2283					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6847C>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	5.041	0.193221	0.09599	.	.	ENSG00000038219	ENST00000040738	T	0.06608	3.28	5.24	2.07	0.26955	.	0.848596	0.09952	N	0.734522	T	0.04634	0.0126	L	0.34521	1.04	0.09310	N	1	B	0.32918	0.39	B	0.27380	0.079	T	0.44329	-0.9335	10	0.18276	T	0.48	-4.4295	6.8818	0.24177	0.0:0.2906:0.3408:0.3686	.	2283	Q8NFC6	BOD1L_HUMAN	A	2283	ENSP00000040738:P2283A	ENSP00000040738:P2283A	P	-	1	0	BOD1L	13210775	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.349000	0.20055	0.548000	0.28955	-0.315000	0.08773	CCA		0.562	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		14	13	0	0	0	1	0	14	13				
SOWAHB	345079	broad.mit.edu	37	4	77818089	77818090	+	In_Frame_Ins	INS	-	-	GCT	rs140725545|rs112402456	byFrequency	TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr4:77818089_77818090insGCT	ENST00000334306.2	-	1	912_913	c.913_914insAGC	c.(913-915)cgc>cAGCgc	p.304_305insQ		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	304	Poly-Gln.																CTCTCGAGTGCGCTGCTGCTGC	0.713														70	0.0139776	0.0492	0.0043	5008	,	,		15762	0.0		0.001	False		,,,				2504	0.001					ENST00000334306.2																			0											c.(913-915)cac>AGCcac		sosondowah ankyrin repeat domain family member B																																				SO:0001652	inframe_insertion	345079							g.chr4:77818089_77818090insGCT		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.911_913dupAGC	4.37:g.77818096_77818098dupGCT	ENSP00000334879:p.Gln304_Gln304dup						p.304_305insS	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	912_913	-			304			Poly-Gln.		B2RP29	In_Frame_Ins	INS	ENST00000334306.2	37	c.913_914insAGC	CCDS34017.1																																																																																				0.713	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		8	10						8	10	---	---	---	---
NBN	4683	broad.mit.edu	37	8	90982714	90982714	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr8:90982714delT	ENST00000265433.3	-	7	928	c.774delA	c.(772-774)gaafs	p.E259fs	NBN_ENST00000409330.1_Frame_Shift_Del_p.E177fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	259	Interaction with MTOR, MAPKAP1 and RICTOR.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATTATGTTCTTCTTCATTCT	0.378								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(772-774)gafs	Homologous recombination	nibrin							100.0	98.0	98.0					8																	90982714		2203	4300	6503	SO:0001589	frameshift_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90982714delT	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.774delA	8.37:g.90982714delT	ENSP00000265433:p.Glu259fs					NBN_ENST00000409330.1_Frame_Shift_Del_p.E177fs	p.E259fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		7	928	-			259					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Frame_Shift_Del	DEL	ENST00000265433.3	37	c.774delA	CCDS6249.1																																																																																				0.378	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		27	83						27	83	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78729786	78729786	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr10:78729786delT	ENST00000286628.8	-	20	2305	c.2306delA	c.(2305-2307)aagfs	p.K769fs	KCNMA1_ENST00000354353.5_Frame_Shift_Del_p.K772fs|KCNMA1_ENST00000372443.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000372440.1_Frame_Shift_Del_p.K711fs|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Frame_Shift_Del_p.K773fs|KCNMA1_ENST00000404771.3_Frame_Shift_Del_p.K769fs|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000286627.5_Frame_Shift_Del_p.K711fs|RP11-443A13.5_ENST00000598613.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	769					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.K711fs*17(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATTCCGTTGCTTTTTTTTTGG	0.502																																						ENST00000286627.5																			1	Deletion - Frameshift(1)	p.K711fs*17(1)	ovary(1)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(2131-2133)agfs		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						249.0	212.0	225.0					10																	78729786		2203	4300	6503	SO:0001589	frameshift_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78729786delT	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2306delA	10.37:g.78729786delT	ENSP00000286628:p.Lys769fs					KCNMA1_ENST00000404771.3_Frame_Shift_Del_p.K769fs|KCNMA1_ENST00000372443.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000406533.3_Frame_Shift_Del_p.K773fs|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Frame_Shift_Del_p.K772fs|KCNMA1_ENST00000372440.1_Frame_Shift_Del_p.K711fs|KCNMA1_ENST00000404857.1_Frame_Shift_Del_p.K711fs|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000286628.8_Frame_Shift_Del_p.K769fs	p.K711fs	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		19	3084	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		706					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Frame_Shift_Del	DEL	ENST00000286628.8	37	c.2132delA																																																																																					0.502	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		7	83						7	83	---	---	---	---
LINC01514	101927396	broad.mit.edu	37	10	102941524	102941524	+	lincRNA	DEL	G	G	-			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr10:102941524delG	ENST00000434189.2	+	0	545																											TTATCTTTGAGGGTTTTGGAA	0.502																																						ENST00000434189.2																			0																																																			101927396							g.chr10:102941524delG																													10.37:g.102941524delG														0	545	+									RNA	DEL	ENST00000434189.2	37																																																																																						0.502	RP11-324L3.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000049927.2			2	4						2	4	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25483318	25483319	+	RNA	INS	-	-	G	rs370022814|rs140580374	byFrequency	TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr15:25483318_25483319insG	ENST00000453082.2	+	0	1979				SNORD115-38_ENST00000365037.1_RNA|SNORD115-37_ENST00000363768.1_RNA|SNORD115-36_ENST00000365629.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GCGCATCTTGTGGGGGGGCAAT	0.579													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	207	0.0413339	0.1498	0.0115	5008	,	,		16900	0.001		0.0	False		,,,				2504	0.0					ENST00000453082.2																			0																																																			104472715							g.chr15:25483318_25483319insG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25483325_25483325dupG								NR_003343.1						0	1979	+									RNA	INS	ENST00000453082.2	37																																																																																						0.579	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			7	10						7	10	---	---	---	---
CLEC17A	388512	broad.mit.edu	37	19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA	rs138602183|rs34295949|rs548360441	byFrequency	TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr19:14694175_14694176insGGA	ENST00000417570.1	+	2	88_89	c.50_51insGGA	c.(49-54)atggag>atGGAggag	p.22_23insE	RN7SL337P_ENST00000462468.2_RNA|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.22_23insE|CLEC17A_ENST00000547437.1_In_Frame_Ins_p.22_23insE	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	22	Poly-Glu.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GAAGGGACCATGGAGGAGGAGG	0.579														414	0.0826677	0.174	0.0346	5008	,	,		19484	0.004		0.0656	False		,,,				2504	0.092					ENST00000547437.1																			0											c.(49-51)aga>aGGAga		C-type lectin domain family 17, member A																																				SO:0001652	inframe_insertion	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14694175_14694176insGGA	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.66_68dupGGA	19.37:g.14694182_14694184dupGGA	ENSP00000393719:p.Glu22_Glu22dup					CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR	p.17_17R>RR	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			2	127_128	+			17					A8MX68|B2RTX0|B7ZMM4	In_Frame_Ins	INS	ENST00000417570.1	37	c.50_51insGGA	CCDS56087.1																																																																																				0.579	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		12	13						12	13	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			6	12						6	12	---	---	---	---
