#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
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	33	0	0	0	1	0	3	33				
RAD23A	5886	broad.mit.edu	37	19	13059566	13059566	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr19:13059566T>C	ENST00000586534.1	+	5	600	c.539T>C	c.(538-540)gTc>gCc	p.V180A	RAD23A_ENST00000316856.3_Missense_Mutation_p.V180A|RAD23A_ENST00000592268.1_Missense_Mutation_p.V180A|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Missense_Mutation_p.V15A			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	180	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CGAGAGCGGGTCGTGGCCGCC	0.632								Nucleotide excision repair (NER)																														ENST00000586534.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(538-540)gTc>gCc	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)							103.0	105.0	105.0					19																	13059566		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13059566T>C		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.539T>C	19.37:g.13059566T>C	ENSP00000467024:p.Val180Ala					RAD23A_ENST00000541222.1_Missense_Mutation_p.V15A|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.V180A|RAD23A_ENST00000592268.1_Missense_Mutation_p.V180A	p.V180A			P54725	RD23A_HUMAN			5	600	+			180			UBA 1.		K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.539T>C	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366331	0.82463	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T;T	0.20598	2.06;2.06	4.61	4.61	0.57282	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.64402	D	0.000002	T	0.40145	0.1105	L	0.55743	1.74	0.58432	D	0.999999	D;P;D	0.71674	0.998;0.925;0.998	D;D;D	0.83275	0.995;0.932;0.996	T	0.13899	-1.0492	10	0.45353	T	0.12	-33.3681	12.9928	0.58630	0.0:0.0:0.0:1.0	.	180;197;180	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	A	180;15	ENSP00000321365:V180A;ENSP00000438741:V15A	ENSP00000321365:V180A	V	+	2	0	RAD23A	12920566	1.000000	0.71417	0.841000	0.33234	0.996000	0.88848	7.308000	0.78929	1.715000	0.51383	0.459000	0.35465	GTC		0.632	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		5	123	0	0	0	1	0	5	123				
ZIC4	84107	broad.mit.edu	37	3	147113841	147113841	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr3:147113841G>C	ENST00000383075.3	-	3	998	c.486C>G	c.(484-486)caC>caG	p.H162Q	ZIC4_ENST00000425731.3_Missense_Mutation_p.H200Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.H212Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.H162Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.H162Q|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	162						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCCGCCGACGTGCTCCACGG	0.602																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(484-486)caC>caG		Zic family member 4							96.0	106.0	103.0					3																	147113841		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113841G>C	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.486C>G	3.37:g.147113841G>C	ENSP00000372553:p.His162Gln					ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.H200Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.H162Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.H212Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.H162Q	p.H162Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	998	-			162					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.486C>G	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414089	0.83449	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	D;D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35;-3.04	5.2	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.48767	D	0.000177	D	0.96800	0.8955	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97211	0.9871	10	0.87932	D	0	.	13.7036	0.62624	0.0746:0.0:0.9254:0.0	.	212;162	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	Q	162;200;212;162;162;162	ENSP00000372553:H162Q;ENSP00000397695:H200Q;ENSP00000435509:H212Q;ENSP00000417855:H162Q;ENSP00000420775:H162Q;ENSP00000420627:H162Q	ENSP00000372553:H162Q	H	-	3	2	ZIC4	148596531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.865000	0.62998	1.196000	0.43129	0.511000	0.50034	CAC		0.602	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			5	100	0	0	0	1	0	5	100				
DSP	1832	broad.mit.edu	37	6	7578728	7578728	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr6:7578728T>C	ENST00000379802.3	+	22	3358	c.3017T>C	c.(3016-3018)cTa>cCa	p.L1006P	DSP_ENST00000418664.2_Missense_Mutation_p.L1006P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1006	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACATTGAACTACTTACAAGA	0.358																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3016-3018)cTa>cCa		desmoplakin							143.0	147.0	146.0					6																	7578728		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7578728T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3017T>C	6.37:g.7578728T>C	ENSP00000369129:p.Leu1006Pro					DSP_ENST00000418664.2_Missense_Mutation_p.L1006P	p.L1006P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	22	3358	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1006			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3017T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323232	0.81580	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.62788	-0.0;-0.0	5.07	5.07	0.68467	.	0.000000	0.47455	D	0.000226	T	0.63450	0.2512	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.70321	-0.4904	10	0.87932	D	0	.	14.8323	0.70156	0.0:0.0:0.0:1.0	.	1053;1006	Q4LE79;P15924	.;DESP_HUMAN	P	1006;1006;811	ENSP00000369129:L1006P;ENSP00000396591:L1006P	ENSP00000369129:L1006P	L	+	2	0	DSP	7523727	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	7.698000	0.84413	1.918000	0.55548	0.533000	0.62120	CTA		0.358	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		4	52	0	0	0	1	0	4	52				
MEFV	4210	broad.mit.edu	37	16	3297232	3297232	+	Silent	SNP	C	C	T			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr16:3297232C>T	ENST00000219596.1	-	5	1410	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	MEFV_ENST00000339854.4_Silent_p.A277A|MEFV_ENST00000536379.1_Silent_p.A246A|MEFV_ENST00000541159.1_Silent_p.A246A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	457	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCTGCTTCAGCGCTTCAGTTT	0.597																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1369-1371)gcG>gcA		Mediterranean fever	Colchicine(DB01394)						73.0	74.0	74.0					16																	3297232		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3297232C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1371G>A	16.37:g.3297232C>T						MEFV_ENST00000541159.1_Silent_p.A246A|MEFV_ENST00000536379.1_Silent_p.A246A|MEFV_ENST00000339854.4_Silent_p.A277A	p.A457A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			5	1410	-			457					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1371G>A	CCDS10498.1																																																																																				0.597	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		6	74	0	0	0	1	0	6	74				
CACNB1	782	broad.mit.edu	37	17	37343159	37343159	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr17:37343159G>C	ENST00000394303.3	-	5	645	c.438C>G	c.(436-438)atC>atG	p.I146M	CACNB1_ENST00000344140.5_Missense_Mutation_p.I146M|CACNB1_ENST00000394310.3_Missense_Mutation_p.I146M|CACNB1_ENST00000582877.1_5'UTR	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	146	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGCCGCCCGATCCACCAGT	0.562																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(436-438)atC>atG		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						56.0	54.0	55.0					17																	37343159		2203	4300	6503	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37343159G>C		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.438C>G	17.37:g.37343159G>C	ENSP00000377840:p.Ile146Met					CACNB1_ENST00000344140.5_Missense_Mutation_p.I146M|CACNB1_ENST00000394310.3_Missense_Mutation_p.I146M|CACNB1_ENST00000582877.1_5'UTR	p.I146M	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			5	645	-			146			SH3.		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.438C>G	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971164	0.74246	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83335	-1.71;-1.71;-1.71	5.06	-9.98	0.00438	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	M	0.87328	2.875	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.995;0.999;1.0;0.995;0.999	D;D;D;D;D	0.81914	0.987;0.995;0.993;0.981;0.995	D	0.85567	0.1231	10	0.87932	D	0	-14.9066	6.3073	0.21145	0.5141:0.0:0.2147:0.2712	.	99;146;146;146;146	F5H6X1;Q6TME4;Q02641-2;Q02641-3;Q02641	.;.;.;.;CACB1_HUMAN	M	96;146;146;146;99	ENSP00000377840:I146M;ENSP00000345461:I146M;ENSP00000377847:I146M	ENSP00000345461:I146M	I	-	3	3	CACNB1	34596685	0.002000	0.14202	0.884000	0.34674	0.963000	0.63663	-1.281000	0.02802	-1.312000	0.02306	0.313000	0.20887	ATC		0.562	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			3	38	0	0	0	1	0	3	38				
FCRL5	83416	broad.mit.edu	37	1	157509002	157509002	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr1:157509002C>T	ENST00000361835.3	-	7	1433	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	FCRL5_ENST00000368189.3_Missense_Mutation_p.A426T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A426T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A341T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A426T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	426	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCAGAGTTGGCCGACCTACGC	0.572																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1276-1278)Gcc>Acc		Fc receptor-like 5							78.0	67.0	71.0					1																	157509002		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157509002C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1276G>A	1.37:g.157509002C>T	ENSP00000354691:p.Ala426Thr					FCRL5_ENST00000368189.3_Missense_Mutation_p.A426T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A426T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A341T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A426T	p.A426T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			7	1433	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	426			Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1276G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498877	0.26861	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	3.17	-1.43	0.08884	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06600	0.0169	M	0.64260	1.97	0.09310	N	1	B;P;B;D;P;D	0.53312	0.302;0.935;0.257;0.959;0.537;0.959	B;P;B;P;B;P	0.47402	0.205;0.546;0.062;0.523;0.155;0.542	T	0.26883	-1.0090	9	0.26408	T	0.33	.	7.7082	0.28663	0.0:0.7254:0.0:0.2746	.	457;341;426;426;426;426	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	T	426;426;426;341;426	ENSP00000354691:A426T;ENSP00000349434:A426T;ENSP00000357173:A426T;ENSP00000357174:A341T;ENSP00000357172:A426T	ENSP00000349434:A426T	A	-	1	0	FCRL5	155775626	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.051000	0.03507	-0.424000	0.07382	-0.379000	0.06801	GCC		0.572	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		3	21	0	0	0	1	0	3	21				
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																						ENST00000558896.1																			0																																																			0							g.chr15:22332432C>T																													15.37:g.22332432C>T														0	239	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	136	0	0	0	1	0	4	136				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs367861986|rs3831361|rs370297731	byFrequency	TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		ATTTGTTCATGCCTTCCCTTT	0.453																																						ENST00000376797.3																			0																																																			0							g.chr6:29977359G>A	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977359G>A						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.453	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	35	0	0	0	1	0	5	35				
FAM47A	158724	broad.mit.edu	37	X	34149302	34149302	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chrX:34149302G>A	ENST00000346193.3	-	1	1145	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	365										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTGGGAGGCGCTAGGCGGAG	0.627																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1093-1095)gCg>gTg		family with sequence similarity 47, member A							31.0	33.0	32.0					X																	34149302		2199	4297	6496	SO:0001583	missense	158724							g.chrX:34149302G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1094C>T	X.37:g.34149302G>A	ENSP00000345029:p.Ala365Val						p.A365V	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1145	-			365					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1094C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.639780	0.00799	.	.	ENSG00000185448	ENST00000346193	T	0.14144	2.53	0.226	-0.452	0.12205	.	.	.	.	.	T	0.07007	0.0178	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40515	-0.9559	8	0.30078	T	0.28	.	.	.	.	.	365	Q5JRC9	FA47A_HUMAN	V	365	ENSP00000345029:A365V	ENSP00000345029:A365V	A	-	2	0	FAM47A	34059223	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	-3.728000	0.00382	-4.179000	0.00067	-4.252000	0.00008	GCG		0.627	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		3	24	0	0	0	1	0	3	24				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GATTTGTTCATGCCTTCCCTT	0.448																																						ENST00000376797.3																			0																																																			0							g.chr6:29977358T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977358T>C						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.448	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	35	0	0	0	1	0	5	35				
POM121C	100101267	broad.mit.edu	37	7	75068480	75068480	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr7:75068480C>T	ENST00000257665.5	-	4	975	c.976G>A	c.(976-978)Gga>Aga	p.G326R	POM121C_ENST00000453279.2_Missense_Mutation_p.G84R|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	326	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCTGAATGTCCACTGCCACTG	0.453																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(250-252)Gga>Aga		POM121 transmembrane nucleoporin C							192.0	192.0	192.0					7																	75068480		2203	4300	6503	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75068480C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.976G>A	7.37:g.75068480C>T	ENSP00000257665:p.Gly326Arg					POM121C_ENST00000257665.5_Missense_Mutation_p.G326R	p.G84R	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			6	1114	-			326			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.250G>A		.	.	.	.	.	.	.	.	.	.	C	13.76	2.333126	0.41297	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.14893	2.47;2.47	4.28	4.28	0.50868	.	0.183335	0.26404	N	0.024563	T	0.28499	0.0705	L	0.46947	1.48	0.29471	N	0.857065	D	0.89917	1.0	D	0.79108	0.992	T	0.06499	-1.0823	10	0.02654	T	1	.	14.2459	0.65988	0.0:1.0:0.0:0.0	.	326	A8CG34	P121C_HUMAN	R	326;84	ENSP00000257665:G326R;ENSP00000414208:G84R	ENSP00000257665:G326R	G	-	1	0	POM121C	74906416	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	4.024000	0.57218	2.101000	0.63845	0.505000	0.49811	GGA		0.453	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		6	184	0	0	0	1	0	6	184				
C15orf59	388135	broad.mit.edu	37	15	74032722	74032722	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr15:74032722G>A	ENST00000569673.1	-	3	1622	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	C15orf59_ENST00000379822.4_Missense_Mutation_p.R140C|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	140										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTCATGAGGCGGTAGTCAGGG	0.647																																						ENST00000569673.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(418-420)Cgc>Tgc		chromosome 15 open reading frame 59							51.0	55.0	54.0					15																	74032722		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032722G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.418C>T	15.37:g.74032722G>A	ENSP00000457205:p.Arg140Cys					C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.R140C	p.R140C			Q2T9L4	CO059_HUMAN			3	1622	-			140						Missense_Mutation	SNP	ENST00000569673.1	37	c.418C>T	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140924	0.56936	.	.	ENSG00000205363	ENST00000379822	T	0.48201	0.82	5.15	4.16	0.48862	.	0.273246	0.34338	N	0.004047	T	0.43233	0.1238	L	0.51422	1.61	0.48830	D	0.999713	B	0.15930	0.015	B	0.14023	0.01	T	0.45934	-0.9227	10	0.66056	D	0.02	.	13.5856	0.61928	0.0:0.0:0.7558:0.2442	.	140	Q2T9L4	CO059_HUMAN	C	140	ENSP00000369150:R140C	ENSP00000369150:R140C	R	-	1	0	C15orf59	71819775	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.050000	0.30404	2.388000	0.81334	0.561000	0.74099	CGC		0.647	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		3	63	0	0	0	1	0	3	63				
ADAMTS17	170691	broad.mit.edu	37	15	100594119	100594119	+	Silent	SNP	G	G	A			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr15:100594119G>A	ENST00000268070.4	-	16	2383	c.2278C>T	c.(2278-2280)Cta>Tta	p.L760L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	760	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGCAGCGGTAGTTTGGTTGGT	0.527																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2278-2280)Cta>Tta		ADAM metallopeptidase with thrombospondin type 1 motif, 17							302.0	287.0	292.0					15																	100594119		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100594119G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2278C>T	15.37:g.100594119G>A							p.L760L	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	16	2383	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		760			Spacer.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2278C>T	CCDS10383.1																																																																																				0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		6	206	0	0	0	1	0	6	206				
KRTAP5-7	440050	broad.mit.edu	37	11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(268-270)tGt>tAt		keratin associated protein 5-7							74.0	97.0	89.0					11																	71238615		2199	4294	6493	SO:0001583	missense	440050					keratin filament		g.chr11:71238615G>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.269G>A	11.37:g.71238615G>A	ENSP00000417330:p.Cys90Tyr						p.C90Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	303	+			90			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.269G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	5.324	0.245132	0.10077	.	.	ENSG00000244411	ENST00000398536	T	0.01438	4.89	1.56	-0.879	0.10613	.	.	.	.	.	T	0.02342	0.0072	M	0.83223	2.63	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40553	-0.9557	9	0.54805	T	0.06	.	2.6036	0.04872	0.3779:0.2657:0.3565:0.0	.	90	Q6L8G8	KRA57_HUMAN	Y	90	ENSP00000417330:C90Y	ENSP00000417330:C90Y	C	+	2	0	KRTAP5-7	70916263	1.000000	0.71417	0.000000	0.03702	0.026000	0.11368	3.535000	0.53575	-0.206000	0.10203	0.162000	0.16502	TGT		0.647	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			6	135	0	0	0	1	0	6	135				
ANKRD36C	400986	broad.mit.edu	37	2	96523162	96523162	+	Silent	SNP	G	G	T	rs549237245		TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr2:96523162G>T	ENST00000456556.1	-	62	4059	c.3975C>A	c.(3973-3975)atC>atA	p.I1325I	ANKRD36C_ENST00000419039.2_Silent_p.I352I|ANKRD36C_ENST00000420871.2_Silent_p.I576I			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1325							ion channel inhibitor activity (GO:0008200)	p.I1325I(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GCTCTTCTGTGATTCTTAACT	0.343																																						ENST00000456556.1																			1	Substitution - coding silent(1)	p.I1325I(1)	prostate(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(3973-3975)atC>atA		ankyrin repeat domain 36C																																				SO:0001819	synonymous_variant	400986							g.chr2:96523162G>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3975C>A	2.37:g.96523162G>T						ANKRD36C_ENST00000420871.2_Silent_p.I576I|ANKRD36C_ENST00000419039.2_Silent_p.I352I	p.I1325I							62	4059	-								C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	ENST00000456556.1	37	c.3975C>A																																																																																					0.343	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	14	1	0	0.115264	1	0.115264	3	14				
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46.0	53.0	50.0					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	38	0	0	0	1	0	3	38				
SYCP2L	221711	broad.mit.edu	37	6	10894418	10894418	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr6:10894418G>A	ENST00000283141.6	+	4	613	c.317G>A	c.(316-318)cGg>cAg	p.R106Q	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	106						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGCTAATTCGGCAGGGACTG	0.378																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(316-318)cGg>cAg		synaptonemal complex protein 2-like							118.0	116.0	117.0					6																	10894418		1847	4095	5942	SO:0001583	missense	221711					nucleus		g.chr6:10894418G>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.317G>A	6.37:g.10894418G>A	ENSP00000283141:p.Arg106Gln					SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	p.R106Q	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		4	613	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	106					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.317G>A	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	2.647	-0.282940	0.05642	.	.	ENSG00000153157	ENST00000283141	T	0.16457	2.34	5.43	1.68	0.24146	.	0.601453	0.15957	N	0.236460	T	0.00998	0.0033	N	0.00926	-1.1	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.48681	-0.9014	10	0.02654	T	1	-15.4425	4.734	0.12979	0.7012:0.0:0.1578:0.141	.	106	Q5T4T6	SYC2L_HUMAN	Q	106	ENSP00000283141:R106Q	ENSP00000283141:R106Q	R	+	2	0	SYCP2L	11002404	1.000000	0.71417	0.997000	0.53966	0.526000	0.34562	1.543000	0.36147	0.341000	0.23771	-0.340000	0.08031	CGG		0.378	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		6	96	0	0	0	1	0	6	96				
UBBP4	23666	broad.mit.edu	37	17	21731451	21731451	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr17:21731451G>A	ENST00000578713.1	+	2	530	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TGACACCATCGAAAATGTGAA	0.542																																						ENST00000578713.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(526-528)Gaa>Aaa																																						SO:0001583	missense	0							g.chr17:21731451G>A	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.526G>A	17.37:g.21731451G>A	ENSP00000464265:p.Glu176Lys					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR	p.E176K							2	530	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.526G>A																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	48	0	0	0	1	0	3	48				
BIRC5	332	broad.mit.edu	37	17	76212096	76212096	+	Nonsense_Mutation	SNP	C	C	T	rs147848202		TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr17:76212096C>T	ENST00000301633.4	+	3	402	c.271C>T	c.(271-273)Cga>Tga	p.R91*	BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			tttgggaggccgaggcgggcg	0.562																																						ENST00000301633.4																			0				kidney(1)|urinary_tract(1)	2						c.(271-273)Cga>Tga		baculoviral IAP repeat containing 5		C	,stop/ARG,	1,4405	2.1+/-5.4	0,1,2202	41.0	44.0	43.0		,271,		0.0	17	dbSNP_134	43	1,8591	1.2+/-3.3	0,1,4295	no	intron,stop-gained,intron	BIRC5	NM_001012270.1,NM_001012271.1,NM_001168.2	,,	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	,,	,91/166,	76212096	2,12996	2203	4296	6499	SO:0001587	stop_gained	332				anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212096C>T	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"""Baculoviral IAP repeat containing"""	593	protein-coding gene	gene with protein product	"""survivin variant 3 alpha"""	603352	"""apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5"""	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000301633.4:c.271C>T	17.37:g.76212096C>T	ENSP00000301633:p.Arg91*					BIRC5_ENST00000350051.3_Intron|AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron	p.R91*	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		3	402	+			74					A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Nonsense_Mutation	SNP	ENST00000301633.4	37	c.271C>T	CCDS32752.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184083	0.38609	2.27E-4	1.16E-4	ENSG00000089685	ENST00000301633;ENST00000432014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	.	.	.	.	.	.	.	X	91	.	ENSP00000301633:R91X	R	+	1	2	BIRC5	73723691	.	.	0.017000	0.16124	0.018000	0.09664	.	.	-1.495000	0.01831	-1.492000	0.00969	CGA		0.562	BIRC5-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000437234.3	NM_001168		3	27	0	0	0	1	0	3	27				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137796	+	lincRNA	DEL	CCACCG	CCACCG	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr1:121137791_121137796delCCACCG	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGCCAC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137796delCCACCG																													1.37:g.121137791_121137796delCCACCG														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			3	6						3	6	---	---	---	---
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			0							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG														0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			2	4						2	4	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			5	5						5	5	---	---	---	---
C1QTNF8	390664	broad.mit.edu	37	16	1143978	1143979	+	Frame_Shift_Ins	INS	-	-	C	rs142667444	byFrequency	TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr16:1143978_1143979insC	ENST00000328449.5	-	4	554_555	c.281_282insG	c.(280-282)ggcfs	p.G94fs		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	94	Collagen-like.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GGCCCTGCAGGCCCCGGGCGCC	0.767													CCCC|CCCC|CCCCC|insertion	85	0.0169728	0.0613	0.0058	5008	,	,		9992	0.0		0.0	False		,,,				2504	0.0					ENST00000328449.5																			0				lung(2)|prostate(1)|skin(1)	4						c.(280-282)gctfs		C1q and tumor necrosis factor related protein 8				110,1786		34,42,872						0.2	0.1		dbSNP_134	3	10,4450		1,8,2221	no	frameshift	C1QTNF8	NM_207419.3		35,50,3093	A1A1,A1R,RR		0.2242,5.8017,1.888				120,6236				SO:0001589	frameshift_variant	390664					collagen		g.chr16:1143978_1143979insC	AY358832	CCDS32358.1	16p13.3	2014-08-12			ENSG00000184471	ENSG00000184471			31374	protein-coding gene	gene with protein product		614147				12975309	Standard	NM_207419		Approved	UNQ5829, CTRP8	uc010uuw.1	P60827	OTTHUMG00000167756	ENST00000328449.5:c.282dupG	16.37:g.1143982_1143982dupC	ENSP00000330426:p.Gly94fs						p.A94fs	NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN			4	554_555	-		Hepatocellular(780;0.00369)	94			Collagen-like.		B7U178	Frame_Shift_Ins	INS	ENST00000328449.5	37	c.281_282insG	CCDS32358.1																																																																																				0.767	C1QTNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396120.1	XM_372606		3	5						3	5	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50905121	50905121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A8MK-01A-11D-A364-08	TCGA-V1-A8MK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96303eed-b939-4980-b0c6-c64f4c0c6bf1	7f00368f-9274-4a6d-a253-193feaac3ced	g.chr22:50905121delC	ENST00000390679.3	-	6	752	c.568delG	c.(568-570)gctfs	p.A190fs	SBF1_ENST00000348911.6_Frame_Shift_Del_p.A191fs|SBF1_ENST00000380817.3_Frame_Shift_Del_p.A190fs			O95248	MTMR5_HUMAN	SET binding factor 1	190	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTCACCAGCCCCCAAAGAG	0.637																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(568-570)ctfs		SET binding factor 1							9.0	12.0	11.0					22																	50905121		1912	4031	5943	SO:0001589	frameshift_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50905121delC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.568delG	22.37:g.50905121delC	ENSP00000375097:p.Ala190fs					SBF1_ENST00000348911.6_Frame_Shift_Del_p.A191fs|SBF1_ENST00000390679.3_Frame_Shift_Del_p.A190fs	p.A190fs	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	6	751	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	190			DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Frame_Shift_Del	DEL	ENST00000390679.3	37	c.568delG																																																																																					0.637	SBF1-201	KNOWN	basic	protein_coding	protein_coding				2	4						2	4	---	---	---	---
