#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
MESP1	55897	broad.mit.edu	37	15	90293428	90293428	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr15:90293428C>T	ENST00000300057.4	-	2	832	c.754G>A	c.(754-756)Gag>Aag	p.E252K	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	252					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ATCCAGGTCTCCAACAGAGCC	0.647																																						ENST00000300057.4																			0				NS(1)|kidney(1)	2						c.(754-756)Gag>Aag		mesoderm posterior 1 homolog (mouse)							76.0	77.0	76.0					15																	90293428		2200	4299	6499	SO:0001583	missense	55897				cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:90293428C>T		CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"""Basic helix-loop-helix proteins"""	29658	protein-coding gene	gene with protein product		608689	"""mesoderm posterior 1 homolog (mouse)"""			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.754G>A	15.37:g.90293428C>T	ENSP00000300057:p.Glu252Lys					MESP1_ENST00000559894.1_5'UTR	p.E252K	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		2	832	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		252					Q9NSF1|Q9NSF2	Missense_Mutation	SNP	ENST00000300057.4	37	c.754G>A	CCDS10355.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445052	0.63178	.	.	ENSG00000166823	ENST00000300057	D	0.83673	-1.75	4.18	3.26	0.37387	.	.	.	.	.	D	0.85177	0.5637	L	0.56769	1.78	0.33518	D	0.592	D	0.61080	0.989	P	0.57720	0.826	D	0.86891	0.2048	9	0.62326	D	0.03	0.7397	7.6083	0.28115	0.0:0.8826:0.0:0.1174	.	252	Q9BRJ9	MESP1_HUMAN	K	252	ENSP00000300057:E252K	ENSP00000300057:E252K	E	-	1	0	MESP1	88094432	0.907000	0.30839	0.988000	0.46212	0.322000	0.28314	0.543000	0.23237	0.969000	0.38237	0.393000	0.25936	GAG		0.647	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1	NM_018670		6	113	0	0	0	0.021553	0	6	113				
UBQLN3	50613	broad.mit.edu	37	11	5530349	5530349	+	Missense_Mutation	SNP	T	T	C	rs202005672		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr11:5530349T>C	ENST00000311659.4	-	2	587	c.440A>G	c.(439-441)tAt>tGt	p.Y147C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	147										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCCACGATAGGCCAAGCC	0.587																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(439-441)tAt>tGt		ubiquilin 3							45.0	42.0	43.0					11																	5530349		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530349T>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.440A>G	11.37:g.5530349T>C	ENSP00000347997:p.Tyr147Cys					HBG2_ENST00000380259.2_Intron	p.Y147C	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	587	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	147					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.440A>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	T	3.227	-0.158354	0.06544	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.52754	1.22;0.65	5.59	3.71	0.42584	.	0.501099	0.16862	N	0.196492	T	0.24353	0.0590	N	0.03608	-0.345	0.21697	N	0.999583	B	0.02656	0.0	B	0.04013	0.001	T	0.17623	-1.0363	10	0.54805	T	0.06	-2.1492	9.1298	0.36839	0.0777:0.0:0.7739:0.1484	.	147	Q9H347	UBQL3_HUMAN	C	147	ENSP00000347997:Y147C;ENSP00000412561:Y147C	ENSP00000347997:Y147C	Y	-	2	0	UBQLN3	5486925	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	6.594000	0.74104	0.832000	0.34804	-0.261000	0.10672	TAT		0.587	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		3	63	0	0	0	0.004672	0	3	63				
AHI1	54806	broad.mit.edu	37	6	135784313	135784313	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr6:135784313T>C	ENST00000367800.4	-	6	1097	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R|AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	294	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.Q294R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTATCATCTTGCATGCTGTC	0.313																																						ENST00000367800.4																			1	Substitution - Missense(1)	p.Q294R(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(880-882)cAa>cGa		Abelson helper integration site 1							129.0	114.0	119.0					6																	135784313		1852	4103	5955	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784313T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.881A>G	6.37:g.135784313T>C	ENSP00000356774:p.Gln294Arg					AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R|AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R	p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	1097	-	Breast(56;0.239)|Colorectal(23;0.24)		294					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.881A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	3.317	-0.139492	0.06669	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.57107	0.42;0.42;0.42;1.63;0.93	4.34	2.06	0.26882	.	0.686507	0.13895	N	0.355342	T	0.26376	0.0644	L	0.51422	1.61	0.58432	D	0.999999	B;B	0.31125	0.145;0.309	B;B	0.21708	0.036;0.026	T	0.16512	-1.0400	10	0.66056	D	0.02	-4.9798	8.9169	0.35587	0.0:0.0:0.507:0.493	.	294;294	Q8N157-2;Q8N157	.;AHI1_HUMAN	R	294;294;294;294;294;276	ENSP00000356774:Q294R;ENSP00000388650:Q294R;ENSP00000265602:Q294R;ENSP00000322478:Q294R;ENSP00000433063:Q276R	ENSP00000265602:Q294R	Q	-	2	0	AHI1	135826006	0.083000	0.21467	0.245000	0.24217	0.019000	0.09904	1.142000	0.31540	0.484000	0.27630	0.383000	0.25322	CAA		0.313	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		3	74	0	0	0	0.021553	0	3	74				
PGAP2	27315	broad.mit.edu	37	11	3845632	3845632	+	Intron	SNP	C	C	G			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr11:3845632C>G	ENST00000463452.2	+	4	608				PGAP2_ENST00000396991.2_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000493547.2_Missense_Mutation_p.S184C|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000278243.4_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396986.2_Intron	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						AGCGGGGGCTCCAAGGCAGCC	0.562											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000493547.2																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(550-552)tCc>tGc		post-GPI attachment to proteins 2							81.0	71.0	74.0					11																	3845632		2201	4298	6499	SO:0001627	intron_variant	27315				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity	g.chr11:3845632C>G	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.525+26C>G	11.37:g.3845632C>G			OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000278243.4_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000396991.2_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000496834.2_Intron	p.S184C	NM_001256238.1	NP_001243167.1	Q9UHJ9	PGAP2_HUMAN			5	629	+			0					E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	c.551C>G	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.590|8.590	0.884319|0.884319	0.17467|0.17467	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000459679|ENST00000464261;ENST00000493547	.|.	.|.	.|.	4.42|4.42	2.38|2.38	0.29361|0.29361	.|.	.|.	.|.	.|.	.|.	T|T	0.45276|0.45276	0.1334|0.1334	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.44344	.|0.833	.|P	.|0.44623	.|0.455	T|T	0.31392|0.31392	-0.9945|-0.9945	4|6	.|.	.|.	.|.	.|.	7.0044|7.0044	0.24828|0.24828	0.1993:0.608:0.1927:0.0|0.1993:0.608:0.1927:0.0	.|.	.|184	.|E9PJG5	.|.	A|C	215|214;184	.|.	.|.	P|S	+|+	1|2	0|0	PGAP2|PGAP2	3802208|3802208	0.039000|0.039000	0.19947|0.19947	0.996000|0.996000	0.52242|0.52242	0.269000|0.269000	0.26545|0.26545	-0.005000|-0.005000	0.12855|0.12855	1.216000|1.216000	0.43427|0.43427	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.562	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			8	66	0	0	0	0.038147	0	8	66				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																						ENST00000391413.2																			6	Substitution - coding silent(6)	p.R51R(6)	endometrium(3)|kidney(2)|lung(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)agG>agA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	191	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	82	0	0	0	0.029380	0	5	82				
TMCC1	23023	broad.mit.edu	37	3	129389296	129389296	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr3:129389296A>T	ENST00000393238.3	-	4	1728	c.1388T>A	c.(1387-1389)cTa>cAa	p.L463Q	TMCC1_ENST00000432054.2_Missense_Mutation_p.L139Q|TMCC1_ENST00000329333.5_Missense_Mutation_p.L284Q|TMCC1_ENST00000426664.2_Missense_Mutation_p.L349Q	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	463						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GATCTCATGTAGTAGTGCATC	0.502																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1387-1389)cTa>cAa		transmembrane and coiled-coil domain family 1							115.0	111.0	112.0					3																	129389296		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389296A>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1388T>A	3.37:g.129389296A>T	ENSP00000376930:p.Leu463Gln					TMCC1_ENST00000432054.2_Missense_Mutation_p.L139Q|TMCC1_ENST00000329333.5_Missense_Mutation_p.L284Q|TMCC1_ENST00000426664.2_Missense_Mutation_p.L349Q	p.L463Q	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1728	-			463					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1388T>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087192	0.76642	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.992;0.999	T	0.63296	-0.6669	10	0.13108	T	0.6	-16.0413	15.6252	0.76851	1.0:0.0:0.0:0.0	.	284;463	B4DE04;O94876	.;TMCC1_HUMAN	Q	139;463;349;284	ENSP00000404711:L139Q;ENSP00000376930:L463Q;ENSP00000389892:L349Q;ENSP00000327349:L284Q	ENSP00000327349:L284Q	L	-	2	0	TMCC1	130871986	1.000000	0.71417	0.961000	0.40146	0.998000	0.95712	9.227000	0.95236	2.155000	0.67459	0.482000	0.46254	CTA		0.502	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	122	0	0	0	0.047766	0	9	122				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	37	0	0	0	0.021553	0	6	37				
WDR17	116966	broad.mit.edu	37	4	177095771	177095771	+	Silent	SNP	T	T	C			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:177095771T>C	ENST00000280190.4	+	28	3624	c.3468T>C	c.(3466-3468)gcT>gcC	p.A1156A	WDR17_ENST00000507824.2_Silent_p.A1131A|WDR17_ENST00000393643.2_Silent_p.A1132A|WDR17_ENST00000508596.1_Silent_p.A1117A			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1156										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTTAGAGCTCGAAATGAGT	0.333																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3394-3396)gcT>gcC		WD repeat domain 17							103.0	99.0	101.0					4																	177095771		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177095771T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3468T>C	4.37:g.177095771T>C						WDR17_ENST00000280190.4_Silent_p.A1156A|WDR17_ENST00000507824.2_Silent_p.A1131A|WDR17_ENST00000508596.1_Silent_p.A1117A	p.A1132A	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	27	3648	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1156					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.3396T>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	9.024	0.985723	0.18889	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.14	-6.11	0.02131	.	.	.	.	.	T	0.39600	0.1084	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46062	-0.9218	4	.	.	.	-21.7067	4.4273	0.11509	0.0921:0.1302:0.4328:0.3449	.	.	.	.	P	391	.	.	S	+	1	0	WDR17	177332765	0.004000	0.15560	0.982000	0.44146	0.819000	0.46315	-1.276000	0.02815	-0.533000	0.06323	-0.342000	0.07992	TCG		0.333	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			10	41	0	0	0	0.069234	0	10	41				
PRSS55	203074	broad.mit.edu	37	8	10387076	10387076	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr8:10387076A>G	ENST00000328655.3	+	2	254	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.M72V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	72	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CACAGGGGGGATGGAGGCGGA	0.507																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(214-216)Atg>Gtg		protease, serine, 55							211.0	209.0	209.0					8																	10387076		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387076A>G	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.214A>G	8.37:g.10387076A>G	ENSP00000333003:p.Met72Val					PRSS55_ENST00000522210.1_Missense_Mutation_p.M72V|PRSS51_ENST00000523024.1_RNA	p.M72V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			2	254	+			72			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.214A>G	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.894741	0.00522	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88124	-2.34;-2.34	3.96	-3.68	0.04463	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.60366	0.2263	N	0.01122	-1.005	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52675	-0.8544	9	0.27082	T	0.32	.	5.6072	0.17387	0.2951:0.477:0.2278:0.0	.	72	Q6UWB4	PRS55_HUMAN	V	72	ENSP00000333003:M72V;ENSP00000430459:M72V	ENSP00000333003:M72V	M	+	1	0	PRSS55	10424486	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.150000	0.10189	-0.654000	0.05394	-1.556000	0.00890	ATG		0.507	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		4	306	0	0	0	0.014758	0	4	306				
GPR98	84059	broad.mit.edu	37	5	89979771	89979771	+	Silent	SNP	C	C	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr5:89979771C>T	ENST00000405460.2	+	28	6129	c.6033C>T	c.(6031-6033)gtC>gtT	p.V2011V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2011	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGAAAAGTCCTTGTCTCAT	0.378																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6031-6033)gtC>gtT		G protein-coupled receptor 98							65.0	61.0	62.0					5																	89979771		1865	4096	5961	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979771C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6033C>T	5.37:g.89979771C>T							p.V2011V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6129	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2011					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.6033C>T	CCDS47246.1																																																																																				0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	30	0	0	0	0.004672	0	3	30				
FAT1	2195	broad.mit.edu	37	4	187628248	187628248	+	Missense_Mutation	SNP	C	C	T	rs200097846		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:187628248C>T	ENST00000441802.2	-	2	2943	c.2734G>A	c.(2734-2736)Gtt>Att	p.V912I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	912	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTTCACAACGACAGTGGAG	0.488										HNSCC(5;0.00058)			C|||	1	0.000199681	0.0	0.0	5008	,	,		21992	0.0		0.001	False		,,,				2504	0.0				Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2734-2736)Gtt>Att		FAT atypical cadherin 1		C	ILE/VAL	0,3946		0,0,1973	179.0	175.0	176.0		2734	2.0	0.0	4		176	4,8338		0,4,4167	yes	missense	FAT1	NM_005245.3	29	0,4,6140	TT,TC,CC		0.048,0.0,0.0326	benign	912/4589	187628248	4,12284	1973	4171	6144	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628248C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2734G>A	4.37:g.187628248C>T	ENSP00000406229:p.Val912Ile	HNSCC(5;0.00058)					p.V912I	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	2943	-			912			Cadherin 7.			Missense_Mutation	SNP	ENST00000441802.2	37	c.2734G>A	CCDS47177.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.005	-2.219767	0.00286	0.0	4.8E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52526	0.66	4.67	1.97	0.26223	Cadherin (5);Cadherin-like (1);	0.363695	0.27896	N	0.017416	T	0.26702	0.0653	N	0.21324	0.655	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.11867	-1.0570	10	0.24483	T	0.36	.	4.5886	0.12295	0.0738:0.1238:0.411:0.3914	.	912	Q14517	FAT1_HUMAN	I	912	ENSP00000406229:V912I	ENSP00000260147:V912I	V	-	1	0	FAT1	187865242	0.179000	0.23135	0.002000	0.10522	0.011000	0.07611	0.714000	0.25808	0.285000	0.22329	-1.472000	0.01007	GTT		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		16	222	0	0	0	0.024245	0	16	222				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	40	0	0	0	0.021553	0	4	40				
MESP1	55897	broad.mit.edu	37	15	90293429	90293429	+	Silent	SNP	C	C	T	rs373208803		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr15:90293429C>T	ENST00000300057.4	-	2	831	c.753G>A	c.(751-753)ttG>ttA	p.L251L	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	251					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TCCAGGTCTCCAACAGAGCCA	0.647																																						ENST00000300057.4																			0				NS(1)|kidney(1)	2						c.(751-753)ttG>ttA		mesoderm posterior 1 homolog (mouse)		C		1,4399	2.1+/-5.4	0,1,2199	76.0	77.0	76.0		753	-1.4	1.0	15		76	0,8598		0,0,4299	no	coding-synonymous	MESP1	NM_018670.3		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		251/269	90293429	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	55897				cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:90293429C>T		CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"""Basic helix-loop-helix proteins"""	29658	protein-coding gene	gene with protein product		608689	"""mesoderm posterior 1 homolog (mouse)"""			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.753G>A	15.37:g.90293429C>T						MESP1_ENST00000559894.1_5'UTR	p.L251L	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		2	831	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		251					Q9NSF1|Q9NSF2	Silent	SNP	ENST00000300057.4	37	c.753G>A	CCDS10355.1																																																																																				0.647	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1	NM_018670		7	108	0	0	0	0.029380	0	7	108				
CCDC30	728621	broad.mit.edu	37	1	43047065	43047065	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr1:43047065A>G	ENST00000340612.4	+	7	1100	c.1100A>G	c.(1099-1101)cAt>cGt	p.H367R	CCDC30_ENST00000342022.4_Missense_Mutation_p.H367R|CCDC30_ENST00000428554.2_Missense_Mutation_p.H367R|CCDC30_ENST00000507855.1_Missense_Mutation_p.H156R|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156R			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	367						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAACATGCTCATAAAGTCTGT	0.348																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1099-1101)cAt>cGt		coiled-coil domain containing 30							93.0	95.0	94.0					1																	43047065		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43047065A>G	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1100A>G	1.37:g.43047065A>G	ENSP00000340378:p.His367Arg					CCDC30_ENST00000507855.1_Missense_Mutation_p.H156R|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156R|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367R|CCDC30_ENST00000340612.4_Missense_Mutation_p.H367R	p.H367R			Q5VVM6	CCD30_HUMAN			15	2243	+			367					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1100A>G	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	A	9.623	1.134253	0.21123	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.48522	0.81;0.83;0.81;0.81;0.83	5.65	0.976	0.19727	.	0.550040	0.19977	N	0.101853	T	0.22859	0.0552	N	0.16656	0.425	0.09310	N	1	B;B;B	0.12013	0.002;0.0;0.005	B;B;B	0.06405	0.001;0.001;0.002	T	0.13548	-1.0505	10	0.13853	T	0.58	.	4.0457	0.09771	0.6202:0.0:0.2323:0.1475	.	367;151;156	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	R	367;156;367;367;156	ENSP00000397035:H367R;ENSP00000426711:H156R;ENSP00000340378:H367R;ENSP00000339280:H367R;ENSP00000375051:H156R	ENSP00000340378:H367R	H	+	2	0	CCDC30	42819652	0.333000	0.24731	0.029000	0.17559	0.956000	0.61745	1.096000	0.30976	0.289000	0.22422	0.528000	0.53228	CAT		0.348	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		6	88	0	0	0	0.021553	0	6	88				
ADH7	131	broad.mit.edu	37	4	100341811	100341811	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:100341811A>T	ENST00000209665.4	-	6	980	c.740T>A	c.(739-741)gTa>gAa	p.V247E	ADH7_ENST00000476959.1_Missense_Mutation_p.V255E|ADH7_ENST00000437033.2_Missense_Mutation_p.V235E|ADH7_ENST00000482593.1_Missense_Mutation_p.V178E	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	247					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		AGTGGCACCTACAGCCATGGC	0.488																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(703-705)gTa>gAa		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						179.0	148.0	159.0					4																	100341811		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100341811A>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.740T>A	4.37:g.100341811A>T	ENSP00000209665:p.Val247Glu					ADH7_ENST00000482593.1_Missense_Mutation_p.V178E|ADH7_ENST00000476959.1_Missense_Mutation_p.V255E|ADH7_ENST00000209665.4_Missense_Mutation_p.V247E	p.V235E			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	6	1207	-			247					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.704T>A	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.698898	0.48307	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	3.8	3.8	0.43715	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.421442	0.23894	N	0.043502	T	0.18509	0.0444	M	0.72118	2.19	0.09310	N	0.999994	D	0.55800	0.973	D	0.70016	0.967	T	0.01015	-1.1480	10	0.87932	D	0	-37.7323	12.722	0.57147	1.0:0.0:0.0:0.0	.	247	P40394	ADH7_HUMAN	E	235;247;178;255	ENSP00000414254:V235E;ENSP00000209665:V247E;ENSP00000420613:V178E;ENSP00000420269:V255E	ENSP00000209665:V247E	V	-	2	0	ADH7	100560834	0.479000	0.25925	0.002000	0.10522	0.348000	0.29142	5.261000	0.65496	1.576000	0.49790	0.460000	0.39030	GTA		0.488	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		19	27	0	0	0	0.055883	0	19	27				
ITGA8	8516	broad.mit.edu	37	10	15646258	15646258	+	Silent	SNP	A	A	G			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr10:15646258A>G	ENST00000378076.3	-	20	2420	c.2067T>C	c.(2065-2067)ttT>ttC	p.F689F	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	689					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTATCATTACAAAGAGTTCAG	0.368																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2065-2067)ttT>ttC		integrin, alpha 8							228.0	184.0	199.0					10																	15646258		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15646258A>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2067T>C	10.37:g.15646258A>G						ITGA8_ENST00000477064.1_5'UTR	p.F689F	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			20	2420	-			689					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.2067T>C	CCDS31155.1																																																																																				0.368	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		27	31	0	0	0	0.108266	0	27	31				
TCF3	6929	broad.mit.edu	37	19	1612376	1612376	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr19:1612376C>T	ENST00000344749.5	-	18	1709	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.R548H|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Missense_Mutation_p.R463H	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R548H(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTGGCCATGCGCCTCTCCCG	0.632			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000344749.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		1	Substitution - Missense(1)	p.R548H(1)	kidney(1)	breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1642-1644)cGc>cAc		transcription factor 3							71.0	68.0	69.0					19																	1612376		1568	3582	5150	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1612376C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000344749.5:c.1643G>A	19.37:g.1612376C>T	ENSP00000344375:p.Arg548His					TCF3_ENST00000588136.1_Missense_Mutation_p.R548H|TCF3_ENST00000453954.2_Missense_Mutation_p.R463H|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000262965.5_Intron	p.R548H	NM_001136139.2	NP_001129611.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	1709	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	551					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000344749.5	37	c.1643G>A	CCDS45899.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379015	0.95945	.	.	ENSG00000071564	ENST00000344749;ENST00000453954	D	0.99158	-5.5	4.63	4.63	0.57726	.	.	.	.	.	D	0.99263	0.9743	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99157	1.0860	8	0.62326	D	0.03	.	16.8493	0.85989	0.0:1.0:0.0:0.0	.	548	P15923-2	.	H	548	ENSP00000344375:R548H	ENSP00000344375:R548H	R	-	2	0	TCF3	1563376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.611000	0.82962	2.284000	0.76573	0.561000	0.74099	CGC		0.632	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449375.1	NM_003200		5	92	0	0	0	0.014758	0	5	92				
ANKRD35	148741	broad.mit.edu	37	1	145561416	145561416	+	Silent	SNP	C	C	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr1:145561416C>T	ENST00000355594.4	+	10	1191	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	368										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGGGATGGCATGGAGCAGG	0.567																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1102-1104)ggC>ggT		ankyrin repeat domain 35							37.0	38.0	38.0					1																	145561416		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145561416C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1104C>T	1.37:g.145561416C>T							p.G368G	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1191	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		368					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.1104C>T	CCDS919.1																																																																																				0.567	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		17	19	0	0	0	0.033300	0	17	19				
SPATA31D5P	347127	broad.mit.edu	37	9	84530744	84530744	+	RNA	SNP	T	T	C			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr9:84530744T>C	ENST00000527857.1	+	0	766					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCCTCTCCCCTTTTCCCACCG	0.542																																						ENST00000527857.1																			0																																																			0							g.chr9:84530744T>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530744T>C								NR_026851.1						0	766	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.542	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		4	168	0	0	0	0.009096	0	4	168				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	32	0	0	0	0.033300	0	18	32				
TNRC6B	23112	broad.mit.edu	37	22	40708536	40708536	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr22:40708536G>A	ENST00000454349.2	+	18	4674	c.4463G>A	c.(4462-4464)gGt>gAt	p.G1488D	TNRC6B_ENST00000335727.9_Missense_Mutation_p.G1378D|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G684D|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G684D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1488	PABPC1-interacting motif-2 (PAM2).|Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCATGGAAAGGTATCCAAAAC	0.423																																						ENST00000454349.2																			0				breast(1)	1						c.(4462-4464)gGt>gAt		trinucleotide repeat containing 6B							82.0	81.0	82.0					22																	40708536		2013	4194	6207	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40708536G>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4463G>A	22.37:g.40708536G>A	ENSP00000401946:p.Gly1488Asp					TNRC6B_ENST00000335727.8_Missense_Mutation_p.G1378D|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G684D|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G684D	p.G1488D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			18	4674	+			1488					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4463G>A	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.185277|5.185277	0.94885|0.94885	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T;T;T|.	0.69806|.	-0.43;-0.43;0.92;0.87|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82669|0.82669	0.5087|0.5087	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.998;0.999;0.998|.	D|D	0.84642|0.84642	0.0696|0.0696	10|5	0.87932|.	D|.	0|.	-6.0511|-6.0511	18.6553|18.6553	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1488;1378;1378;684|.	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2|.	TNR6B_HUMAN;.;.;.|.	D|I	684;684;1488;1378;1378|1174	ENSP00000306759:G684D;ENSP00000384795:G684D;ENSP00000401946:G1488D;ENSP00000338371:G1378D|.	ENSP00000306759:G684D|.	G|V	+|+	2|1	0|0	TNRC6B|TNRC6B	39038482|39038482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.801000|9.801000	0.99128|0.99128	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	GGT|GTA		0.423	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				26	56	0	0	0	0.091800	0	26	56				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	45	0	0	0	0.014758	0	5	45				
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			2	4						2	4	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		7	243						7	243	---	---	---	---
