#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
PKP4	8502	broad.mit.edu	37	2	159481720	159481720	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:159481720G>T	ENST00000389759.3	+	7	1046	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L	PKP4_ENST00000389757.3_Missense_Mutation_p.V312L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	312					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CACCGCCAGAGTGGGGTCCCC	0.632										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(934-936)Gtg>Ttg		plakophilin 4							47.0	44.0	45.0					2																	159481720		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159481720G>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.934G>T	2.37:g.159481720G>T	ENSP00000374409:p.Val312Leu	HNSCC(62;0.18)				PKP4_ENST00000389759.3_Missense_Mutation_p.V312L	p.V312L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			7	1059	+			312					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.934G>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718921	0.30503	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.74632	-0.82;-0.86	5.87	5.87	0.94306	.	0.304042	0.31210	N	0.008048	T	0.69993	0.3173	L	0.34521	1.04	0.48135	D	0.999598	B;B;B;B	0.17465	0.013;0.002;0.007;0.022	B;B;B;B	0.27380	0.047;0.004;0.006;0.079	T	0.61831	-0.6982	10	0.37606	T	0.19	-11.6221	20.5827	0.99408	0.0:0.0:1.0:0.0	.	164;312;312;164	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	L	164;312;312	ENSP00000374407:V312L;ENSP00000374409:V312L	ENSP00000374407:V312L	V	+	1	0	PKP4	159189966	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.025000	0.76449	2.941000	0.99782	0.655000	0.94253	GTG		0.632	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			12	22	1	0	0.010729	1	0.010729	12	22				
WNT11	7481	broad.mit.edu	37	11	75907721	75907721	+	Missense_Mutation	SNP	G	G	A	rs200871564		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:75907721G>A	ENST00000322563.3	-	2	249	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	42					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCAGTGTTGCGTCTGGTTCAG	0.637																																						ENST00000322563.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(124-126)aCg>aTg		wingless-type MMTV integration site family, member 11		G	MET/THR	1,4399	2.1+/-5.4	0,1,2199	56.0	39.0	45.0		125	5.1	1.0	11		45	0,8584		0,0,4292	no	missense	WNT11	NM_004626.2	81	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	42/355	75907721	1,12983	2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75907721G>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.125C>T	11.37:g.75907721G>A	ENSP00000325526:p.Thr42Met						p.T42M	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			2	249	-			42					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.125C>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965800	0.74131	2.27E-4	0.0	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76448	-1.02	5.06	5.06	0.68205	.	0.181630	0.45126	D	0.000392	T	0.71753	0.3377	N	0.14661	0.345	0.54753	D	0.999981	D	0.71674	0.998	P	0.53146	0.719	T	0.75068	-0.3448	10	0.49607	T	0.09	.	13.2145	0.59851	0.0:0.1597:0.8403:0.0	.	42	O96014	WNT11_HUMAN	M	42	ENSP00000325526:T42M	ENSP00000325526:T42M	T	-	2	0	WNT11	75585369	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.587000	0.74071	2.334000	0.79466	0.655000	0.94253	ACG		0.637	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		5	14	0	0	0	1	0	5	14				
RB1	5925	broad.mit.edu	37	13	49039494	49039494	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:49039494C>T	ENST00000267163.4	+	23	2617	c.2479C>T	c.(2479-2481)Cca>Tca	p.P827S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	827	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAAAATGACTCCAAGATCAAG	0.368		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2479-2481)Cca>Tca		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						57.0	61.0	59.0					13																	49039494		2201	4300	6501	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039494C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2479C>T	13.37:g.49039494C>T	ENSP00000267163:p.Pro827Ser	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.P827S	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2617	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	827			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2479C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423244	0.83559	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.86694	-2.16	5.66	5.66	0.87406	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92567	0.6063	10	0.72032	D	0.01	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	827	P06400	RB_HUMAN	S	806;827	ENSP00000267163:P827S	ENSP00000267163:P827S	P	+	1	0	RB1	47937495	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.749000	0.74883	2.669000	0.90835	0.591000	0.81541	CCA		0.368	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			24	34	0	0	0	1	0	24	34				
NWD1	284434	broad.mit.edu	37	19	16908636	16908636	+	Missense_Mutation	SNP	C	C	T	rs140641936	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:16908636C>T	ENST00000552788.1	+	14	3398	c.3398C>T	c.(3397-3399)aCg>aTg	p.T1133M	NWD1_ENST00000524140.2_Missense_Mutation_p.T1133M|NWD1_ENST00000339803.6_Missense_Mutation_p.T998M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1133M|NWD1_ENST00000549814.1_Missense_Mutation_p.T1133M|NWD1_ENST00000523826.1_Missense_Mutation_p.T927M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1133							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGGTGGAGACGGCTGTTTTT	0.542																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3397-3399)aCg>aTg		NACHT and WD repeat domain containing 1		C	MET/THR	0,4406		0,0,2203	297.0	272.0	281.0		3398	3.6	0.2	19	dbSNP_134	281	4,8596	3.7+/-12.6	0,4,4296	no	missense	NWD1	NM_001007525.3	81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	1133/1433	16908636	4,13002	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16908636C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3398C>T	19.37:g.16908636C>T	ENSP00000447224:p.Thr1133Met					NWD1_ENST00000549814.1_Missense_Mutation_p.T1133M|NWD1_ENST00000552788.1_Missense_Mutation_p.T1133M|NWD1_ENST00000523826.1_Missense_Mutation_p.T927M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1133M|NWD1_ENST00000339803.6_Missense_Mutation_p.T998M	p.T1133M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3816	+			1133					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3398C>T		.	.	.	.	.	.	.	.	.	.	C	8.793	0.931090	0.18131	0.0	4.65E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70986	-0.23;-0.53;-0.23;3.51;3.51;3.51	4.62	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.299519	0.31784	N	0.007074	T	0.57562	0.2062	N	0.24115	0.695	0.21064	N	0.999794	P;P;P	0.41345	0.661;0.746;0.63	B;B;B	0.41510	0.212;0.359;0.271	T	0.54262	-0.8320	10	0.62326	D	0.03	-4.2155	10.6039	0.45384	0.0:0.9041:0.0:0.0959	.	1133;1133;998	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	998;1133;1133;1133;927;1133;998	ENSP00000428579:T1133M;ENSP00000447548:T1133M;ENSP00000369136:T1133M;ENSP00000428955:T927M;ENSP00000447224:T1133M;ENSP00000340159:T998M	ENSP00000340159:T998M	T	+	2	0	NWD1	16769636	0.263000	0.24083	0.152000	0.22495	0.016000	0.09150	1.992000	0.40737	1.151000	0.42436	0.561000	0.74099	ACG		0.542	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		102	162	0	0	0	1	0	102	162				
SRRM2	23524	broad.mit.edu	37	16	2812763	2812763	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr16:2812763C>T	ENST00000301740.8	+	11	2783	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	745	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGTCCAATTCAAGCCCAGAA	0.468																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2233-2235)tCa>tTa		serine/arginine repetitive matrix 2							91.0	95.0	94.0					16																	2812763		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812763C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2234C>T	16.37:g.2812763C>T	ENSP00000301740:p.Ser745Leu						p.S745L	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2783	+			745			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2234C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	3.912	-0.019808	0.07634	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.37915	1.17	5.8	5.8	0.92144	.	0.000000	0.51477	D	0.000091	T	0.33904	0.0879	L	0.27053	0.805	0.35032	D	0.758848	D	0.58268	0.982	P	0.50049	0.629	T	0.33394	-0.9870	10	0.29301	T	0.29	-12.9674	13.1768	0.59633	0.0:0.8399:0.1601:0.0	.	745	Q9UQ35	SRRM2_HUMAN	L	745;745;710	ENSP00000301740:S745L	ENSP00000301740:S745L	S	+	2	0	SRRM2	2752764	0.964000	0.33143	0.999000	0.59377	0.687000	0.40016	3.481000	0.53179	2.746000	0.94184	0.563000	0.77884	TCA		0.468	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			15	81	0	0	0	1	0	15	81				
SLITRK1	114798	broad.mit.edu	37	13	84454817	84454817	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:84454817C>A	ENST00000377084.2	-	1	1711	c.826G>T	c.(826-828)Gcc>Tcc	p.A276S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	276					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTTCTTGGGCAGGGGGCGCC	0.552																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(826-828)Gcc>Tcc		SLIT and NTRK-like family, member 1							61.0	64.0	63.0					13																	84454817		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454817C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.826G>T	13.37:g.84454817C>A	ENSP00000366288:p.Ala276Ser						p.A276S	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1711	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	276					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.826G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	1.046	-0.677213	0.03378	.	.	ENSG00000178235	ENST00000377084	T	0.41400	1.0	4.95	4.95	0.65309	.	0.053938	0.85682	D	0.000000	T	0.23249	0.0562	N	0.05230	-0.09	0.53005	D	0.999968	B	0.13145	0.007	B	0.12837	0.008	T	0.08827	-1.0703	10	0.12103	T	0.63	-12.6113	16.915	0.86149	0.0:1.0:0.0:0.0	.	276	Q96PX8	SLIK1_HUMAN	S	276	ENSP00000366288:A276S	ENSP00000366288:A276S	A	-	1	0	SLITRK1	83352818	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.366000	0.59492	2.572000	0.86782	0.555000	0.69702	GCC		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		20	44	1	0	1.01871e-10	1	1.15638e-10	20	44				
TSPAN10	83882	broad.mit.edu	37	17	79609410	79609410	+	RNA	SNP	G	G	T	rs7406219	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:79609410G>T	ENST00000572675.1	+	0	0				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGGCGCCTGTGCTGGGGGCTT	0.657													G|||	2927	0.584465	0.6415	0.6023	5008	,	,		15072	0.7798		0.2853	False		,,,				2504	0.6012					ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10		G		2364,1746		695,974,386	47.0	57.0	53.0			0.2	0.0	17	dbSNP_116	53	2906,5514		513,1880,1817	no	utr-5	TSPAN10	NM_031945.3		1208,2854,2203	TT,TG,GG		34.5131,42.4818,42.0591			79609410	5270,7260	2055	4210	6265			83882					integral to membrane		g.chr17:79609410G>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79609410G>T								NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	62	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q8N548	RNA	SNP	ENST00000572675.1	37																																																																																						0.657	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		4	64	1	0	0.00909568	1	0.00931753	4	64				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		5	19	0	0	0	1	0	5	19				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		95	49	0	0	0	1	0	95	49				
TTN	7273	broad.mit.edu	37	2	179629473	179629473	+	Missense_Mutation	SNP	G	G	A	rs374521620		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:179629473G>A	ENST00000591111.1	-	42	9993	c.9769C>T	c.(9769-9771)Cgc>Tgc	p.R3257C	TTN_ENST00000342992.6_Missense_Mutation_p.R3257C|TTN_ENST00000589042.1_Missense_Mutation_p.R3257C|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3257C|TTN_ENST00000342175.6_Missense_Mutation_p.R3211C|TTN_ENST00000359218.5_Missense_Mutation_p.R3211C|TTN_ENST00000460472.2_Missense_Mutation_p.R3211C|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13585	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACAGAAGCGGGCAGGCTTG	0.507																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9769-9771)Cgc>Tgc		titin							80.0	83.0	82.0					2																	179629473		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629473G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9769C>T	2.37:g.179629473G>A	ENSP00000465570:p.Arg3257Cys					TTN_ENST00000359218.5_Missense_Mutation_p.R3211C|TTN_ENST00000460472.2_Missense_Mutation_p.R3211C|TTN_ENST00000342992.6_Missense_Mutation_p.R3257C|TTN_ENST00000591111.1_Missense_Mutation_p.R3257C|TTN_ENST00000360870.5_Missense_Mutation_p.R3257C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R3211C	p.R3257C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		42	9993	-			2987			Ig-like 19.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.9769C>T		.	.	.	.	.	.	.	.	.	.	G	17.73	3.462563	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85856	0.5794	M	0.81942	2.565	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.86936	0.2076	9	0.87932	D	0	.	19.821	0.96592	0.0:0.0:1.0:0.0	.	3211;3211;3211;3257;3257	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	3257;3211;3211;3211;3211;3257	ENSP00000343764:R3257C;ENSP00000434586:R3211C;ENSP00000340554:R3211C;ENSP00000352154:R3211C;ENSP00000354117:R3257C	ENSP00000340554:R3211C	R	-	1	0	TTN	179337718	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	7.894000	0.87336	2.683000	0.91414	0.655000	0.94253	CGC		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	63	0	0	0	1	0	22	63				
ECSIT	51295	broad.mit.edu	37	19	11624902	11624902	+	Silent	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:11624902C>T	ENST00000270517.7	-	3	366	c.231G>A	c.(229-231)ggG>ggA	p.G77G	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Silent_p.G77G|ECSIT_ENST00000417981.2_Intron|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000252440.7_Silent_p.G77G	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	77					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CAGGCGCCTGCCCAAACAGGT	0.632																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(229-231)ggG>ggA		ECSIT signalling integrator							51.0	50.0	50.0					19																	11624902		2203	4300	6503	SO:0001819	synonymous_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624902C>T	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.231G>A	19.37:g.11624902C>T						ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Silent_p.G77G|ECSIT_ENST00000252440.7_Silent_p.G77G	p.G77G	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			3	366	-			77					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	ENST00000270517.7	37	c.231G>A	CCDS12262.1																																																																																				0.632	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		19	22	0	0	0	1	0	19	22				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	31	0	0	0	1	0	4	31				
EFCAB5	374786	broad.mit.edu	37	17	28380836	28380836	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:28380836T>C	ENST00000394835.3	+	10	2056	c.1864T>C	c.(1864-1866)Tca>Cca	p.S622P	EFCAB5_ENST00000320856.5_Missense_Mutation_p.S622P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S622P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S622P|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S566P|EFCAB5_ENST00000541045.1_Missense_Mutation_p.S279P	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	622							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACAAAGGGTCAGTAGCAGA	0.463																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1864-1866)Tca>Cca		EF-hand calcium binding domain 5							239.0	225.0	230.0					17																	28380836		2083	4215	6298	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380836T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1864T>C	17.37:g.28380836T>C	ENSP00000378312:p.Ser622Pro					EFCAB5_ENST00000541045.1_Missense_Mutation_p.S279P|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S566P|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S622P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S622P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S622P	p.S622P	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	2056	+			622					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1864T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	12.44	1.938610	0.34189	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.83	2.13	0.27403	.	0.723385	0.11968	N	0.512046	T	0.54615	0.1869	M	0.67953	2.075	0.09310	N	1	D;D;D;P;B;P	0.89917	0.999;1.0;1.0;0.859;0.111;0.859	D;D;D;P;B;B	0.91635	0.996;0.998;0.999;0.507;0.041;0.274	T	0.37776	-0.9691	10	0.34782	T	0.22	-10.1655	3.4961	0.07655	0.0:0.272:0.1974:0.5306	.	566;566;622;622;622;622	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	P	566;365;279;622;622;622;622;566;428	ENSP00000440619:S566P;ENSP00000445575:S279P;ENSP00000378312:S622P;ENSP00000322003:S622P;ENSP00000378309:S622P;ENSP00000368012:S622P;ENSP00000417009:S428P	ENSP00000322003:S622P	S	+	1	0	EFCAB5	25404962	0.002000	0.14202	0.056000	0.19401	0.007000	0.05969	0.441000	0.21611	1.028000	0.39785	0.533000	0.62120	TCA		0.463	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		38	132	0	0	0	1	0	38	132				
KCTD2	23510	broad.mit.edu	37	17	73055633	73055633	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:73055633T>A	ENST00000322444.6	+	4	575	c.569T>A	c.(568-570)cTg>cAg	p.L190Q	KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	190					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					TACAGAGTCCTGCAGTGTCAG	0.567																																						ENST00000322444.6																			0				kidney(1)|lung(2)	3						c.(568-570)cTg>cAg		potassium channel tetramerization domain containing 2							106.0	85.0	92.0					17																	73055633		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73055633T>A	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.569T>A	17.37:g.73055633T>A	ENSP00000312814:p.Leu190Gln					KCTD2_ENST00000581589.1_5'UTR	p.L190Q	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN			4	575	+	all_lung(278;0.226)		190						Missense_Mutation	SNP	ENST00000322444.6	37	c.569T>A	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	T	31	5.085562	0.94100	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.59638	0.25	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.79353	0.4431	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83450	0.0048	10	0.87932	D	0	.	15.837	0.78805	0.0:0.0:0.0:1.0	.	190	Q14681	KCTD2_HUMAN	Q	190;172	ENSP00000312814:L190Q	ENSP00000312814:L190Q	L	+	2	0	KCTD2	70567228	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.959000	0.87885	2.140000	0.66376	0.460000	0.39030	CTG		0.567	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			17	19	0	0	0	1	0	17	19				
KIAA0930	23313	broad.mit.edu	37	22	45601543	45601543	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr22:45601543C>T	ENST00000336156.5	-	4	447	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	KIAA0930_ENST00000251993.7_Missense_Mutation_p.G133R|KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000443310.3_Missense_Mutation_p.G110R|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G94R	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	128										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGAATGTCCCCGCCGTCAGCA	0.617																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(382-384)Ggg>Agg		KIAA0930							85.0	77.0	80.0					22																	45601543		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601543C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.382G>A	22.37:g.45601543C>T	ENSP00000336720:p.Gly128Arg					KIAA0930_ENST00000251993.7_Missense_Mutation_p.G133R|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G94R|KIAA0930_ENST00000443310.3_Missense_Mutation_p.G110R	p.G128R	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			4	447	-			128					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.382G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193788	0.58017	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.59	4.59	0.56863	.	0.156544	0.56097	D	0.000024	T	0.62780	0.2456	L	0.28694	0.88	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.995;0.999	D;P;P;P	0.91635	0.999;0.806;0.578;0.859	T	0.55933	-0.8062	9	0.12430	T	0.62	-34.2283	15.9647	0.79961	0.0:1.0:0.0:0.0	.	110;128;133;199	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	R	128;133;94;110;94;110	.	ENSP00000251993:G133R	G	-	1	0	KIAA0930	43980207	1.000000	0.71417	0.763000	0.31416	0.100000	0.18952	7.485000	0.81204	2.275000	0.75901	0.561000	0.74099	GGG		0.617	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		9	12	0	0	0	1	0	9	12				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	35	0	0	0	1	0	3	35				
TAF2	6873	broad.mit.edu	37	8	120790278	120790278	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:120790278T>C	ENST00000378164.2	-	18	2643	c.2345A>G	c.(2344-2346)aAt>aGt	p.N782S		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	782					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTGTTGTCATTGTACTTGAT	0.289																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2344-2346)aAt>aGt		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							42.0	45.0	44.0					8																	120790278		2199	4284	6483	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120790278T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2345A>G	8.37:g.120790278T>C	ENSP00000367406:p.Asn782Ser						p.N782S	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		18	2643	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		782					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2345A>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301054	0.81136	.	.	ENSG00000064313	ENST00000378164	T	0.38722	1.12	5.64	5.64	0.86602	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77940	-0.2399	10	0.66056	D	0.02	-27.1167	15.8661	0.79067	0.0:0.0:0.0:1.0	.	782	Q6P1X5	TAF2_HUMAN	S	782	ENSP00000367406:N782S	ENSP00000367406:N782S	N	-	2	0	TAF2	120859459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.971000	0.88012	2.155000	0.67459	0.477000	0.44152	AAT		0.289	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		5	6	0	0	0	1	0	5	6				
SLC47A1	55244	broad.mit.edu	37	17	19463805	19463805	+	Splice_Site	SNP	C	C	T	rs185769986		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:19463805C>T	ENST00000270570.4	+	12	1191	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Splice_Site_p.R369*|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Splice_Site_p.R346*|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000571335.1_Splice_Site_p.R174*|SLC47A1_ENST00000457293.1_Splice_Site_p.R369*	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	369					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TACTACCGACCGGTGAGTGCT	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21798	0.0		0.0	False		,,,				2504	0.0					ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e12+1		solute carrier family 47 (multidrug and toxin extrusion), member 1							178.0	162.0	167.0					17																	19463805		2203	4300	6503	SO:0001630	splice_region_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19463805C>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1106+1C>T	17.37:g.19463805C>T						SLC47A1_ENST00000457293.1_Splice_Site_p.R369_splice|SLC47A1_ENST00000395585.1_Splice_Site_p.R369_splice|SLC47A1_ENST00000436810.2_Splice_Site_p.R346_splice|SLC47A1_ENST00000571335.1_Splice_Site_p.R174_splice|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron	p.R369_splice	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			12	1191	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		369					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Splice_Site	SNP	ENST00000270570.4	37	c.1106_splice	CCDS11209.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.50	3.139656	0.56936	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	.	.	.	5.46	-4.57	0.03421	.	0.680052	0.15370	N	0.265893	.	.	.	.	.	.	0.44834	D	0.997842	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-2.1866	7.4226	0.27081	0.6956:0.1473:0.0814:0.0757	.	.	.	.	X	346;369;369;369;103;81	.	ENSP00000270570:R369X	R	+	1	2	SLC47A1	19404397	0.496000	0.26059	0.432000	0.26747	0.419000	0.31324	-0.167000	0.09940	-1.120000	0.02953	0.462000	0.41574	CGA		0.403	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	Nonsense_Mutation	16	61	0	0	0	1	0	16	61				
GCN1L1	10985	broad.mit.edu	37	12	120611492	120611492	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr12:120611492T>A	ENST00000300648.6	-	14	1343	c.1331A>T	c.(1330-1332)cAt>cTt	p.H444L	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	444					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTAGGCATGCCTCACCGC	0.502																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1330-1332)cAt>cTt		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							90.0	85.0	86.0					12																	120611492		1943	4140	6083	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120611492T>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1331A>T	12.37:g.120611492T>A	ENSP00000300648:p.His444Leu						p.H444L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			14	1343	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		444					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1331A>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792762	0.31685	.	.	ENSG00000089154	ENST00000300648	T	0.04194	3.68	5.14	5.14	0.70334	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	L	0.57536	1.79	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15665	-1.0429	10	0.07482	T	0.82	-13.0669	14.9422	0.71003	0.0:0.0:0.0:1.0	.	444	Q92616	GCN1L_HUMAN	L	444	ENSP00000300648:H444L	ENSP00000300648:H444L	H	-	2	0	GCN1L1	119095875	1.000000	0.71417	0.975000	0.42487	0.972000	0.66771	7.594000	0.82698	1.934000	0.56057	0.455000	0.32223	CAT		0.502	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	52	0	0	0	1	0	6	52				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	13	0	0	0	1	0	3	13				
IGSF9B	22997	broad.mit.edu	37	11	133801601	133801601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:133801601G>T	ENST00000321016.8	-	9	1430	c.1200C>A	c.(1198-1200)taC>taA	p.Y400*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y400*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	400	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGAGTGTTGTAAGGCACAC	0.602																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1198-1200)taC>taA		immunoglobulin superfamily, member 9B							40.0	45.0	44.0					11																	133801601		2028	4185	6213	SO:0001587	stop_gained	22997					integral to membrane|plasma membrane		g.chr11:133801601G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1200C>A	11.37:g.133801601G>T	ENSP00000317980:p.Tyr400*					IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y400*	p.Y400*			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	9	1430	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	400			Ig-like 4.		G5EA26	Nonsense_Mutation	SNP	ENST00000321016.8	37	c.1200C>A		.	.	.	.	.	.	.	.	.	.	G	40	7.970073	0.98588	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7919	0.23705	0.2184:0.0:0.7816:0.0	.	.	.	.	X	400;242;400	.	ENSP00000317980:Y400X	Y	-	3	2	IGSF9B	133306811	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.998000	0.49465	2.423000	0.82170	0.543000	0.68304	TAC		0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	10	1	0	0.000602214	1	0.000648539	5	10				
RP1L1	94137	broad.mit.edu	37	8	10466014	10466014	+	Missense_Mutation	SNP	C	C	T	rs535482422		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:10466014C>T	ENST00000382483.3	-	4	5817	c.5594G>A	c.(5593-5595)gGg>gAg	p.G1865E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1945					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGGCCTCCCCTTCAGCCTC	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(5593-5595)gGg>gAg		retinitis pigmentosa 1-like 1							159.0	157.0	158.0					8																	10466014		1899	4114	6013	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466014C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5594G>A	8.37:g.10466014C>T	ENSP00000371923:p.Gly1865Glu						p.G1865E	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5817	-			1865					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5594G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	1.540	-0.542143	0.04053	.	.	ENSG00000183638	ENST00000382483	T	0.07567	3.18	2.07	-4.15	0.03881	.	.	.	.	.	T	0.03477	0.0100	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47169	-0.9138	9	0.07644	T	0.81	.	8.3342	0.32204	0.0:0.4029:0.0:0.5971	.	1865	A6NKC6	.	E	1865	ENSP00000371923:G1865E	ENSP00000371923:G1865E	G	-	2	0	RP1L1	10503424	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.312000	0.08113	-1.379000	0.02118	-1.488000	0.00978	GGG		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			49	167	0	0	0	1	0	49	167				
CDH23	64072	broad.mit.edu	37	10	73560398	73560398	+	Silent	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:73560398C>T	ENST00000224721.6	+	52	7388	c.7383C>T	c.(7381-7383)gaC>gaT	p.D2461D	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.D216D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2456	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTAGGGTGACATCTATGTGC	0.507																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7381-7383)gaC>gaT		cadherin-related 23							52.0	54.0	53.0					10																	73560398		1936	4129	6065	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73560398C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7383C>T	10.37:g.73560398C>T						CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.D216D	p.D2461D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			52	7388	+			2456			Cadherin 23.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.7383C>T																																																																																					0.507	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		8	8	0	0	0	1	0	8	8				
FAM196A	642938	broad.mit.edu	37	10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A	rs377391223	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:128973908G>A	ENST00000522781.1	-	4	1307	c.752C>T	c.(751-753)aCg>aTg	p.T251M	FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		15461	0.0		0.0	False		,,,				2504	0.002					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(751-753)aCg>aTg		family with sequence similarity 196, member A		G	MET/THR,	1,4403	2.1+/-5.4	0,1,2201	21.0	23.0	23.0		752,	4.0	0.7	10		23	0,8600		0,0,4300	no	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	81,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	251/480,	128973908	1,13003	2202	4300	6502	SO:0001583	missense	642938							g.chr10:128973908G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.752C>T	10.37:g.128973908G>A	ENSP00000429763:p.Thr251Met					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1307	-			251					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.752C>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575891	0.45902	2.27E-4	0.0	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.47528	0.84;0.84	4.02	4.02	0.46733	.	0.234553	0.43919	D	0.000508	T	0.65101	0.2659	M	0.69823	2.125	0.43381	D	0.995488	D;D	0.89917	1.0;0.999	D;P	0.72982	0.979;0.903	T	0.68659	-0.5350	10	0.87932	D	0	.	12.5521	0.56231	0.0:0.0:0.8332:0.1668	.	251;251	B7ZME7;Q6ZSG2	.;F196A_HUMAN	M	251	ENSP00000429763:T251M;ENSP00000428730:T251M	ENSP00000428730:T251M	T	-	2	0	FAM196A	128863898	0.998000	0.40836	0.702000	0.30337	0.309000	0.27889	2.909000	0.48758	2.530000	0.85305	0.563000	0.77884	ACG		0.657	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		6	16	0	0	0	1	0	6	16				
BNIP3L	665	broad.mit.edu	37	8	26238955	26238955	+	5'Flank	SNP	G	G	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:26238955G>A	ENST00000380629.2	+	0	0				BNIP3L_ENST00000523515.1_5'Flank|BNIP3L_ENST00000520409.1_5'Flank|SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		CTCCTAGATGGAGGGTGGTGG	0.463																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:26238955G>A	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26238955G>A	Exception_encountered													0	993	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.463	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		8	14	0	0	0	1	0	8	14				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	80	0	0	0	1	0	4	80				
PRND	23627	broad.mit.edu	37	20	4705313	4705313	+	Missense_Mutation	SNP	C	C	T	rs368923140		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr20:4705313C>T	ENST00000305817.2	+	2	187	c.116C>T	c.(115-117)gCc>gTc	p.A39V		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	39	Flexible tail.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AACCGGAAGGCCCTGCCCAGC	0.622																																						ENST00000305817.2																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						c.(115-117)gCc>gTc		prion protein 2 (dublet)		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	62.0	53.0	56.0		116	2.2	0.0	20		56	0,8600		0,0,4300	no	missense	PRND	NM_012409.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	39/177	4705313	1,13005	2203	4300	6503	SO:0001583	missense	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705313C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.116C>T	20.37:g.4705313C>T	ENSP00000306900:p.Ala39Val						p.A39V	NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN			2	187	+			39			Flexible tail.		A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	c.116C>T	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	C	2.775	-0.254911	0.05829	2.27E-4	0.0	ENSG00000171864	ENST00000305817	D	0.82803	-1.65	5.47	2.19	0.27852	.	0.960811	0.08524	N	0.932934	T	0.70133	0.3189	L	0.28458	0.855	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.52373	-0.8584	10	0.12430	T	0.62	-7.6194	6.2887	0.21047	0.0:0.6368:0.1682:0.195	.	39	Q9UKY0	PRND_HUMAN	V	39	ENSP00000306900:A39V	ENSP00000306900:A39V	A	+	2	0	PRND	4653313	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	0.824000	0.27379	0.659000	0.30945	0.557000	0.71058	GCC		0.622	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		4	51	0	0	0	1	0	4	51				
GABRA2	2555	broad.mit.edu	37	4	46390678	46390678	+	Frame_Shift_Del	DEL	C	C	-	rs41301819		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr4:46390678delC	ENST00000510861.1	-	2	219	c.46delG	c.(46-48)gttfs	p.V16fs	RP11-436F23.1_ENST00000502455.1_RNA|GABRA2_ENST00000507069.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000514090.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000515082.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000507460.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000381620.4_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000356504.1_Frame_Shift_Del_p.V16fs			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	16					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACCAAGAAAACAAAAAGCAGG	0.368																																						ENST00000507460.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(46-48)ttfs		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						157.0	156.0	156.0					4																	46390678		2203	4300	6503	SO:0001589	frameshift_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46390678delC		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.46delG	4.37:g.46390678delC	ENSP00000421828:p.Val16fs					GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000510861.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000356504.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000507069.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000515082.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000381620.4_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000514090.1_Frame_Shift_Del_p.V16fs	p.V16fs			P47869	GBRA2_HUMAN			2	378	-			16					A8K0U7|B7Z1H8|Q59G14	Frame_Shift_Del	DEL	ENST00000510861.1	37	c.46delG	CCDS3471.1																																																																																				0.368	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			18	52						18	52	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs66758325|rs115430423|rs67954476		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AGGTTTAGTGATTTTTATTCCAA	0.429																																						ENST00000411500.1																			0																																																			0							g.chr6:32521769_32521771delATT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521769_32521771delATT								NR_001298.1						0	740	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.429	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		7	2						7	2	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	5'UTR	DEL	CTG	CTG	-			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr6:114292110_114292112delCTG	ENST00000519065.1	-	0	337_339				HDAC2_ENST00000519108.1_5'Flank|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000521888.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Del_p.S81del			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685																																						ENST00000398283.2																			1	Substitution - Missense(1)	p.S81R(1)	prostate(1)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(241-246)agg>ag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292110_114292112delCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-40CAG>-	6.37:g.114292119_114292121delCTG						HDAC2_ENST00000368632.2_5'UTR|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000436876.2_RNA	p.SR81del	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	247_249	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Del	DEL	ENST00000519065.1	37	c.243_245delCAG	CCDS43493.2																																																																																				0.685	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			2	4						2	4	---	---	---	---
