#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
MLLT1	4298	broad.mit.edu	37	19	6213134	6213134	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr19:6213134G>A	ENST00000252674.7	-	12	1762	c.1599C>T	c.(1597-1599)acC>acT	p.T533T	CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	533					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGTCGAAGGTGGTGTTGGTGA	0.627			T	MLL	AL																																	uc002mek.3				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1597-1599)acC>acT		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.							183.0	163.0	170.0					19																	6213134		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6213134G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1599C>T	19.37:g.6213134G>A							p.T533T	NM_005934	NP_005925	Q03111	ENL_HUMAN			11	1763	-			533					Q14768	Silent	SNP	ENST00000252674.7	37	c.1599C>T	CCDS12160.1																																																																																				0.627	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		40	89	0	0	0	1	0	40	89				
ZBTB26	57684	broad.mit.edu	37	9	125681791	125681791	+	Silent	SNP	T	T	C			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr9:125681791T>C	ENST00000373656.3	-	2	496	c.423A>G	c.(421-423)ccA>ccG	p.P141P	ZBTB26_ENST00000373654.1_Silent_p.P141P	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AAGCACTCTGTGGTTCACATC	0.468																																						uc004bnj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(421-423)ccA>ccG		Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.							149.0	132.0	137.0					9																	125681791		2203	4300	6503	SO:0001819	synonymous_variant	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681791T>C	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.423A>G	9.37:g.125681791T>C						ZBTB26_uc004bnk.3_Silent_p.P141P|ZBTB26_uc022bnc.1_Silent_p.P141P	p.P141P	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN			1	635	-			141					B3KQ53|Q8WTR1	Silent	SNP	ENST00000373656.3	37	c.423A>G	CCDS6847.1																																																																																				0.468	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		16	83	0	0	0	1	0	16	83				
POU2F1	5451	broad.mit.edu	37	1	167367336	167367336	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:167367336A>G	ENST00000541643.3	+	12	1328	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	POU2F1_ENST00000367862.5_Missense_Mutation_p.N401S|POU2F1_ENST00000367866.2_Missense_Mutation_p.N412S|POU2F1_ENST00000420254.3_Missense_Mutation_p.N389S|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.N349S			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	389					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ATAGAGACCAACATCCGTGTG	0.468																																						uc001gee.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1234-1236)aAc>aGc		Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 1, mRNA.							144.0	138.0	140.0					1																	167367336		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167367336A>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1166A>G	1.37:g.167367336A>G	ENSP00000441285:p.Asn389Ser					POU2F1_uc001gec.3_Missense_Mutation_p.N389S|POU2F1_uc010plh.2_Missense_Mutation_p.N349S|POU2F1_uc001ged.3_Missense_Mutation_p.N387S|POU2F1_uc001gef.3_Missense_Mutation_p.N401S|POU2F1_uc001geg.3_Missense_Mutation_p.N287S|POU2F1_uc009wvg.1_5'Flank	p.N412S	NM_002697	NP_002688	P14859	PO2F1_HUMAN			10	1304	+			389					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1235A>G		.	.	.	.	.	.	.	.	.	.	A	18.50	3.638046	0.67130	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77750	-1.12;-1.0;-1.12;-1.12;-1.12;-1.12;-1.12	6.0	6.0	0.97389	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	N	0.05078	-0.115	0.80722	D	1	P;B;P;P;P	0.52842	0.956;0.004;0.946;0.946;0.956	B;B;B;B;B	0.43754	0.43;0.019;0.304;0.397;0.43	T	0.61898	-0.6968	10	0.35671	T	0.21	.	16.4953	0.84238	1.0:0.0:0.0:0.0	.	349;389;401;387;389	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	S	412;349;387;389;389;401;297	ENSP00000356840:N412S;ENSP00000401217:N349S;ENSP00000356839:N387S;ENSP00000414660:N389S;ENSP00000441285:N389S;ENSP00000356836:N401S;ENSP00000415993:N297S	ENSP00000356836:N401S	N	+	2	0	POU2F1	165633960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.264000	0.95635	2.287000	0.76781	0.533000	0.62120	AAC		0.468	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		3	69	0	0	0	1	0	3	69				
FUT9	10690	broad.mit.edu	37	6	96651640	96651640	+	Silent	SNP	C	C	G			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr6:96651640C>G	ENST00000302103.5	+	3	935	c.609C>G	c.(607-609)gtC>gtG	p.V203V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	203					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATGCCAGAGTCAAGTATTACA	0.408																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(607-609)gtC>gtG		Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.							68.0	64.0	66.0					6																	96651640		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651640C>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.609C>G	6.37:g.96651640C>G						FUT9_uc021zcw.1_Silent_p.V203V	p.V203V	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	2	950	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	203					Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.609C>G	CCDS5033.1																																																																																				0.408	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		15	30	0	0	0	1	0	15	30				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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	NP_004324	P15056	BRAF_HUMAN			14	1860	-	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		27	49	0	0	0	1	0	27	49				
ZFHX3	463	broad.mit.edu	37	16	72984519	72984519	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr16:72984519C>T	ENST00000268489.5	-	3	3737	c.3065G>A	c.(3064-3066)gGc>gAc	p.G1022D	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G108D	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1022					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTTGGCCTTGCCGCCCTCCTT	0.592																																						uc002fck.3																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(3064-3066)gGc>gAc		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							165.0	124.0	138.0					16																	72984519		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72984519C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3065G>A	16.37:g.72984519C>T	ENSP00000268489:p.Gly1022Asp					ZFHX3_uc002fcl.3_Missense_Mutation_p.G108D	p.G1022D	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	3738	-		Ovarian(137;0.13)	1022					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3065G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983725	0.74474	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.56275	0.47;0.47	5.21	5.21	0.72293	.	0.000000	0.51477	D	0.000100	T	0.62245	0.2412	N	0.21545	0.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67730	-0.5595	10	0.87932	D	0	.	18.7673	0.91878	0.0:1.0:0.0:0.0	.	1022	Q15911	ZFHX3_HUMAN	D	1022;108	ENSP00000268489:G1022D;ENSP00000438926:G108D	ENSP00000268489:G1022D	G	-	2	0	ZFHX3	71542020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.436000	0.80404	2.415000	0.81967	0.650000	0.86243	GGC		0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	47	0	0	0	1	0	3	47				
OR8K5	219453	broad.mit.edu	37	11	55927551	55927551	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr11:55927551C>T	ENST00000313447.1	-	1	242	c.243G>A	c.(241-243)gtG>gtA	p.V81V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATTTGCCAGCACCTTGGGAC	0.383																																						uc010rja.2																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(241-243)gtG>gtA		Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.							102.0	102.0	102.0					11																	55927551		2201	4296	6497	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927551C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.243G>A	11.37:g.55927551C>T							p.V81V	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			0	243	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	81					Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.243G>A	CCDS31521.1																																																																																				0.383	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		5	70	0	0	0	1	0	5	70				
TNXB	7148	broad.mit.edu	37	6	32015637	32015637	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr6:32015637G>A	ENST00000375244.3	-	30	10399	c.10198C>T	c.(10198-10200)Ccg>Tcg	p.P3400S	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.P3398S			P22105	TENX_HUMAN	tenascin XB	3445	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P3465S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCACCGGCACCACCTGG	0.617																																						uc003nzl.2																			1	Substitution - Missense(1)	p.P3465S(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10192-10194)Ccg>Tcg		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							29.0	37.0	34.0					6																	32015637		1437	2647	4084	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32015637G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10198C>T	6.37:g.32015637G>A	ENSP00000364393:p.Pro3400Ser					TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	p.P3398S	NM_019105	NP_061978	P22105	TENX_HUMAN			29	10394	-			3445					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10192C>T		.	.	.	.	.	.	.	.	.	.	G	8.195	0.796763	0.16327	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.53857	0.6;0.6	4.76	1.98	0.26296	.	0.137947	0.33753	N	0.004594	T	0.27241	0.0668	L	0.47190	1.495	0.09310	N	1	P	0.39748	0.686	P	0.50136	0.632	T	0.29150	-1.0021	10	0.09590	T	0.72	.	4.9993	0.14257	0.1793:0.0:0.6531:0.1676	.	3398	P22105-3	.	S	3400;3398	ENSP00000364393:P3400S;ENSP00000364396:P3398S	ENSP00000364393:P3400S	P	-	1	0	TNXB	32123615	0.999000	0.42202	0.073000	0.20177	0.001000	0.01503	3.696000	0.54757	0.221000	0.20879	-0.229000	0.12294	CCG		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	32	0	0	0	1	0	3	32				
KIAA1522	57648	broad.mit.edu	37	1	33236588	33236588	+	Missense_Mutation	SNP	C	C	G	rs576382004		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:33236588C>G	ENST00000373480.1	+	6	1734	c.1631C>G	c.(1630-1632)gCt>gGt	p.A544G	KIAA1522_ENST00000401073.2_Missense_Mutation_p.A603G|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A555G	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	544	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGTCCCCCTGCTTCCCCAGGC	0.642																																						uc001bvu.1																			0		p.P602S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1807-1809)gCt>gGt		Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.							56.0	60.0	59.0					1																	33236588		1907	4093	6000	SO:0001583	missense	57648							g.chr1:33236588C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1631C>G	1.37:g.33236588C>G	ENSP00000362579:p.Ala544Gly					KIAA1522_uc010ohm.1_Missense_Mutation_p.A555G|KIAA1522_uc001bvv.2_Missense_Mutation_p.A544G|KIAA1522_uc010ohn.1_Intron	p.A603G	NM_020888	NP_065939	Q9P206	K1522_HUMAN			5	1852	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	544			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.1808C>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873003	0.33069	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13196	2.61;2.64;2.65	3.9	3.9	0.45041	.	0.108692	0.39544	N	0.001330	T	0.11580	0.0282	L	0.51422	1.61	0.26103	N	0.98079	B;B;B	0.28082	0.089;0.089;0.2	B;B;B	0.24155	0.035;0.035;0.051	T	0.12243	-1.0555	10	0.28530	T	0.3	-7.1315	8.0633	0.30646	0.0:0.7502:0.1602:0.0895	.	555;544;603	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	G	603;555;544	ENSP00000383851:A603G;ENSP00000362580:A555G;ENSP00000362579:A544G	ENSP00000362579:A544G	A	+	2	0	KIAA1522	33009175	0.013000	0.17824	1.000000	0.80357	0.984000	0.73092	2.564000	0.45931	2.154000	0.67381	0.462000	0.41574	GCT		0.642	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	66	0	0	0	1	0	6	66				
FCGR2B	2213	broad.mit.edu	37	1	161641233	161641233	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:161641233T>C	ENST00000358671.5	+	3	266	c.185T>C	c.(184-186)cTc>cCc	p.L62P	FCGR2B_ENST00000236937.9_Missense_Mutation_p.L62P|FCGR2B_ENST00000428605.2_Missense_Mutation_p.L62P|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L55P|FCGR2B_ENST00000403078.3_Missense_Mutation_p.L62P|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367962.4_Missense_Mutation_p.L62P|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L55P	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	62	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAACGTGCTCCAGGAGGAC	0.587			T	?	ALL																																	uc001gaz.2				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0											c.(184-186)cTc>cCc		Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						97.0	99.0	99.0					1																	161641233		2203	4300	6503	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641233T>C	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.185T>C	1.37:g.161641233T>C	ENSP00000351497:p.Leu62Pro					FCGR2B_uc009wum.2_Missense_Mutation_p.L62P|FCGR2B_uc001gay.2_Missense_Mutation_p.L61P|FCGR2B_uc001gba.2_Missense_Mutation_p.L61P|FCGR2B_uc009wun.2_Missense_Mutation_p.L55P|FCGR2B_uc001gbb.2_Missense_Mutation_p.L62P	p.L62P	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	312	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		62			Ig-like C2-type 1.		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.185T>C	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289104	0.59976	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79	4.53	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.279504	0.24465	N	0.038281	T	0.19287	0.0463	M	0.69463	2.115	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.992;0.999;0.999;1.0;0.999	T	0.00812	-1.1556	10	0.87932	D	0	.	10.2477	0.43352	0.0:0.0:0.0:1.0	.	55;62;62;62;62;62	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	P	62;55;62;62;62;55;62;61	ENSP00000356939:L62P;ENSP00000356937:L55P;ENSP00000386038:L62P;ENSP00000404329:L62P;ENSP00000236937:L62P;ENSP00000356938:L55P;ENSP00000351497:L62P	ENSP00000236937:L62P	L	+	2	0	FCGR2B	159907857	0.197000	0.23362	0.135000	0.22099	0.034000	0.12701	3.841000	0.55850	1.674000	0.50907	0.379000	0.24179	CTC		0.587	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		21	29	0	0	0	1	0	21	29				
MAP1B	4131	broad.mit.edu	37	5	71495163	71495163	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr5:71495163C>T	ENST00000296755.7	+	5	6279	c.5981C>T	c.(5980-5982)tCt>tTt	p.S1994F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1994					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATGATGACTCTGAGGATGGT	0.483																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5980-5982)tCt>tTt		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							135.0	142.0	140.0					5																	71495163		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495163C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5981C>T	5.37:g.71495163C>T	ENSP00000296755:p.Ser1994Phe					MAP1B_uc010iyw.1_Missense_Mutation_p.S2011F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1868F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1868F	p.S1994F	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	6222	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1994					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5981C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034812	0.35893	.	.	ENSG00000131711	ENST00000296755	T	0.03468	3.92	5.51	5.51	0.81932	.	0.641591	0.15393	N	0.264685	T	0.03348	0.0097	N	0.08118	0	0.30366	N	0.783313	B;B	0.25169	0.119;0.119	B;B	0.32465	0.146;0.043	T	0.33752	-0.9856	10	0.40728	T	0.16	-7.2639	13.7476	0.62885	0.0:0.9239:0.0:0.0761	.	1868;1994	A2BDK6;P46821	.;MAP1B_HUMAN	F	1994	ENSP00000296755:S1994F	ENSP00000296755:S1994F	S	+	2	0	MAP1B	71530919	0.044000	0.20184	0.988000	0.46212	0.999000	0.98932	2.451000	0.44952	2.601000	0.87937	0.643000	0.83706	TCT		0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	228	0	0	0	1	0	8	228				
OR4N5	390437	broad.mit.edu	37	14	20612492	20612492	+	Missense_Mutation	SNP	G	G	T	rs147549956		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr14:20612492G>T	ENST00000333629.1	+	1	598	c.598G>T	c.(598-600)Gtc>Ttc	p.V200F	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTCTGATGGTCTCCAACAG	0.537																																						uc010tla.2																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(598-600)Gtc>Ttc		Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.							101.0	82.0	89.0					14																	20612492		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612492G>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.598G>T	14.37:g.20612492G>T	ENSP00000332110:p.Val200Phe						p.V200F	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	0	598	+	all_cancers(95;0.00108)		200					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.598G>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933352	0.34096	.	.	ENSG00000184394	ENST00000333629	T	0.00076	8.76	3.88	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001315	T	0.00144	0.0004	N	0.11364	0.135	0.30924	N	0.72769	D	0.63046	0.992	D	0.66351	0.943	T	0.59747	-0.7396	10	0.87932	D	0	.	4.4473	0.11604	0.1155:0.0:0.5608:0.3236	.	200	Q8IXE1	OR4N5_HUMAN	F	200	ENSP00000332110:V200F	ENSP00000332110:V200F	V	+	1	0	OR4N5	19682332	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.816000	0.04477	0.967000	0.38186	0.655000	0.94253	GTC		0.537	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			7	96	0	0	0	1	0	7	96				
WDR47	22911	broad.mit.edu	37	1	109544904	109544904	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:109544904C>G	ENST00000369962.3	-	7	1597	c.1375G>C	c.(1375-1377)Gtg>Ctg	p.V459L	WDR47_ENST00000357672.3_Missense_Mutation_p.V431L|WDR47_ENST00000361054.3_Missense_Mutation_p.V431L|WDR47_ENST00000400794.3_Missense_Mutation_p.V467L|WDR47_ENST00000369965.4_Missense_Mutation_p.V460L			O94967	WDR47_HUMAN	WD repeat domain 47	459	Gln-rich.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCCTGATTCACGCCTCCTTCA	0.383																																						uc001dwl.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1399-1401)Gtg>Ctg		Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.							189.0	162.0	171.0					1																	109544904		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109544904C>G	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1375G>C	1.37:g.109544904C>G	ENSP00000358979:p.Val459Leu					WDR47_uc001dwi.3_Missense_Mutation_p.V460L|WDR47_uc001dwj.3_Missense_Mutation_p.V459L|WDR47_uc001dwk.2_Missense_Mutation_p.V431L|WDR47_uc010ovf.2_Missense_Mutation_p.V386L	p.V467L	NM_001142550	NP_001136022	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	6	1775	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	459			Gln-rich.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1399G>C	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394758	0.83011	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58652	0.32;0.35;0.32;0.32;0.32	5.3	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.32530	0.975	0.52501	D	0.99995	D;D;D;D	0.69078	0.996;0.997;0.997;0.996	D;D;D;D	0.77004	0.989;0.988;0.988;0.989	T	0.56848	-0.7911	10	0.37606	T	0.19	-2.0252	14.1082	0.65104	0.0:0.9269:0.0:0.0731	.	431;467;459;460	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	L	467;459;431;460;431	ENSP00000383599:V467L;ENSP00000358979:V459L;ENSP00000354339:V431L;ENSP00000358982:V460L;ENSP00000350301:V431L	ENSP00000350301:V431L	V	-	1	0	WDR47	109346427	1.000000	0.71417	0.958000	0.39756	0.967000	0.64934	6.968000	0.76086	1.234000	0.43709	0.491000	0.48974	GTG		0.383	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		10	128	0	0	0	1	0	10	128				
FRMPD3	84443	broad.mit.edu	37	X	106844382	106844382	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chrX:106844382C>T	ENST00000276185.4	+	16	3212	c.3212C>T	c.(3211-3213)aCa>aTa	p.T1071I				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1071						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGAGCACCCACAGGCAGCCGG	0.527																																						uc022cce.1																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(379-381)aCa>aTa		Homo sapiens mRNA for KIAA1817 protein, partial cds.							32.0	32.0	32.0					X																	106844382		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106844382C>T	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.3212C>T	X.37:g.106844382C>T	ENSP00000276185:p.Thr1071Ile						p.T127I			Q5JV73	FRPD3_HUMAN			0	748	+			1071			PDZ.		Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.380C>T		.	.	.	.	.	.	.	.	.	.	C	5.156	0.214454	0.09810	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.14766	2.48;2.48	4.12	1.3	0.21679	.	0.943557	0.08822	N	0.888608	T	0.08358	0.0208	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.38845	-0.9642	8	0.39692	T	0.17	.	2.0784	0.03629	0.161:0.5134:0.1551:0.1704	.	.	.	.	I	1071;1019	ENSP00000276185:T1071I;ENSP00000398668:T1019I	ENSP00000276185:T1071I	T	+	2	0	FRMPD3	106731038	0.002000	0.14202	0.047000	0.18901	0.572000	0.35998	0.291000	0.18994	-0.041000	0.13558	0.436000	0.28706	ACA		0.527	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		20	34	0	0	0	1	0	20	34				
MEF2C	4208	broad.mit.edu	37	5	88047813	88047813	+	Silent	SNP	G	G	C			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr5:88047813G>C	ENST00000437473.2	-	5	867	c.450C>G	c.(448-450)tcC>tcG	p.S150S	MEF2C_ENST00000504921.2_Silent_p.S150S|MEF2C_ENST00000539796.1_Silent_p.S102S|MEF2C_ENST00000514015.1_Silent_p.S150S|MEF2C_ENST00000508569.1_Silent_p.S150S|MEF2C_ENST00000510942.1_Silent_p.S150S|MEF2C_ENST00000514028.1_Silent_p.S150S|MEF2C_ENST00000340208.5_Silent_p.S168S|MEF2C_ENST00000424173.2_Silent_p.S148S|MEF2C_ENST00000506554.1_Silent_p.S150S|MEF2C_ENST00000503554.1_5'UTR	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	150	Ser-rich.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGTTGTGGCTGGACACTGGGA	0.478										HNSCC(66;0.2)																												uc003kjl.3																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(502-504)tcC>tcG		Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.							140.0	142.0	141.0					5																	88047813		1952	4164	6116	SO:0001819	synonymous_variant	4208				B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047813G>C	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.450C>G	5.37:g.88047813G>C		HNSCC(66;0.2)				MEF2C_uc021ybg.1_Silent_p.S102S|MEF2C_uc021ybh.1_Silent_p.S102S|MEF2C_uc003kji.2_Silent_p.S150S|MEF2C_uc003kjj.3_Silent_p.S150S|MEF2C_uc003kjk.3_Silent_p.S150S|MEF2C_uc003kjm.3_Silent_p.S148S	p.S168S	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	6	933	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	150			Ser-rich.		C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	c.504C>G	CCDS47245.1																																																																																				0.478	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		32	70	0	0	0	1	0	32	70				
ST18	9705	broad.mit.edu	37	8	53092728	53092728	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr8:53092728C>T	ENST00000276480.7	-	9	914	c.231G>A	c.(229-231)agG>agA	p.R77R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	77					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGTCCTCTGTCCTGTCACTGC	0.542																																						uc003xqz.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(229-231)agG>agA		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.							330.0	264.0	286.0					8																	53092728		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53092728C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.231G>A	8.37:g.53092728C>T						ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.R42R|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.R77R|ST18_uc003xrb.2_Silent_p.R77R|ST18_uc010lyb.2_Non-coding_Transcript	p.R77R	NM_014682	NP_055497	O60284	ST18_HUMAN			3	387	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	77					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.231G>A	CCDS6149.1																																																																																				0.542	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			36	175	0	0	0	1	0	36	175				
MYH8	4626	broad.mit.edu	37	17	10295952	10295952	+	Silent	SNP	A	A	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr17:10295952A>T	ENST00000403437.2	-	38	5569	c.5475T>A	c.(5473-5475)ctT>ctA	p.L1825L	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1825					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCTCCTTCAAGCTCACGTA	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5473-5475)ctT>ctA		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							168.0	158.0	161.0					17																	10295952		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295952A>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5475T>A	17.37:g.10295952A>T						AK097500_uc002gml.1_Intron	p.L1825L	NM_002472	NP_002463	P13535	MYH8_HUMAN			37	5570	-			1825					Q14910	Silent	SNP	ENST00000403437.2	37	c.5475T>A	CCDS11153.1																																																																																				0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	159	0	0	0	1	0	7	159				
RYK	6259	broad.mit.edu	37	3	133928660	133928661	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr3:133928660_133928661delCT	ENST00000296084.4	-	5	460_461	c.461_462delAG	c.(460-462)gagfs	p.E154fs	RYK_ENST00000427044.2_5'UTR	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN	receptor-like tyrosine kinase	153	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TACAGGAAAGCTCTACCCGAAA	0.272																																						uc003eqc.1																			0				lung(1)|ovary(3)	4						c.(454-456)gagfs		Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	6259				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133928660_133928661delCT	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000296084.4:c.461_462delAG	3.37:g.133928662_133928663delCT	ENSP00000296084:p.Glu154fs					RYK_uc003eqd.1_Frame_Shift_Del_p.E152fs	p.E152fs	NM_001005861	NP_001005861	P34925	RYK_HUMAN			4	553_554	-			153			WIF.		Q04696	Frame_Shift_Del	DEL	ENST00000296084.4	37	c.455_456delAG																																																																																					0.272	RYK-201	KNOWN	basic	protein_coding	protein_coding		NM_001005861		2	4						2	4	---	---	---	---
