#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																																	ENST00000252674.7				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		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							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						MLLT1_ENST00000585588.1_5'UTR	p.T533T	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			12	1762	-			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	0.864702	0	40	89				
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_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.N389S|POU2F1_ENST00000367866.2_Missense_Mutation_p.N412S|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																																						ENST00000367862.5																			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.(1201-1203)aAc>aGc		POU class 2 homeobox 1							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_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.N389S|POU2F1_ENST00000429375.2_Missense_Mutation_p.N349S|POU2F1_ENST00000420254.3_Missense_Mutation_p.N389S|POU2F1_ENST00000367866.2_Missense_Mutation_p.N412S	p.N401S	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			11	1437	+			389					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1202A>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	0.115264	0	3	69				
ZNF280C	55609	broad.mit.edu	37	X	129363020	129363020	+	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.chrX:129363020G>A	ENST00000370978.4	-	10	1231	c.1078C>T	c.(1078-1080)Cgg>Tgg	p.R360W		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGATATTGCCGGTAACAGTGC	0.433																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1078-1080)Cgg>Tgg		zinc finger protein 280C							380.0	279.0	313.0					X																	129363020		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129363020G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1078C>T	X.37:g.129363020G>A	ENSP00000360017:p.Arg360Trp						p.R360W	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			10	1231	-			360					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.1078C>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.305791	0.60305	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.08102	4.0;3.13	4.12	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.33469	0.0864	M	0.92026	3.265	0.37812	D	0.928098	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.42361	-0.9456	9	0.87932	D	0	.	10.3263	0.43796	0.0:0.0:0.8023:0.1977	.	360;360	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	W	360	ENSP00000360017:R360W;ENSP00000408521:R360W	ENSP00000066465:R360W	R	-	1	2	ZNF280C	129190701	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.359000	0.52292	0.876000	0.35872	-0.371000	0.07208	CGG		0.433	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		4	185	0	0	0	0.150653	0	4	185				
NCOA4	8031	broad.mit.edu	37	10	51579175	51579175	+	Missense_Mutation	SNP	A	A	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.chr10:51579175A>C	ENST00000443446.1	+	2	263	c.34A>C	c.(34-36)Agt>Cgt	p.S12R	NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000438493.1_Missense_Mutation_p.S28R|NCOA4_ENST00000374082.1_Missense_Mutation_p.S12R|NCOA4_ENST00000374087.4_Missense_Mutation_p.S12R|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000452682.1_Missense_Mutation_p.S28R|NCOA4_ENST00000344348.6_Missense_Mutation_p.S12R	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	12					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGGCAGCTCCAGTAATAGAGA	0.408			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(82-84)Agt>Cgt		nuclear receptor coactivator 4							48.0	55.0	53.0					10																	51579175		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51579175A>C	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.34A>C	10.37:g.51579175A>C	ENSP00000390713:p.Ser12Arg					NCOA4_ENST00000374082.1_Missense_Mutation_p.S12R|NCOA4_ENST00000374087.4_Missense_Mutation_p.S12R|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.S12R|NCOA4_ENST00000443446.1_Missense_Mutation_p.S12R|NCOA4_ENST00000438493.1_Missense_Mutation_p.S28R	p.S28R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			3	334	+			12					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.82A>C	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921905	0.73213	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.21191	2.36;2.34;2.34;2.34;2.02;2.34	5.79	5.79	0.91817	.	0.460516	0.24321	N	0.039555	T	0.23806	0.0576	L	0.32530	0.975	0.80722	D	1	P;D;P	0.53619	0.931;0.961;0.808	P;P;P	0.49752	0.621;0.621;0.467	T	0.01262	-1.1402	10	0.66056	D	0.02	-18.2451	11.0233	0.47730	0.8279:0.0:0.0:0.1721	.	28;28;12	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	R	28;28;12;12;12;12;12	ENSP00000405146:S28R;ENSP00000395465:S28R;ENSP00000363200:S12R;ENSP00000344552:S12R;ENSP00000363195:S12R;ENSP00000390713:S12R	ENSP00000332421:S12R	S	+	1	0	NCOA4	51249181	0.809000	0.29036	0.998000	0.56505	0.989000	0.77384	0.888000	0.28268	2.212000	0.71576	0.533000	0.62120	AGT		0.408	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		8	65	0	0	0	0.387290	0	8	65				
RUNDC3B	154661	broad.mit.edu	37	7	87329812	87329812	+	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.chr7:87329812C>T	ENST00000338056.3	+	4	776	c.365C>T	c.(364-366)tCa>tTa	p.S122L	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S105L|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S105L	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	122	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CGGAAAGTTTCACAGAATTGT	0.383																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(364-366)tCa>tTa		RUN domain containing 3B							84.0	82.0	83.0					7																	87329812		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87329812C>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.365C>T	7.37:g.87329812C>T	ENSP00000337732:p.Ser122Leu					RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S105L|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S105L	p.S122L	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			4	776	+	Esophageal squamous(14;0.00164)		122			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.365C>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449782	0.84101	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.32023	1.47;1.47;1.47	5.18	5.18	0.71444	RUN (2);	0.054753	0.85682	D	0.000000	T	0.30727	0.0774	N	0.24115	0.695	0.58432	D	0.999996	P;P;P;P;B	0.50528	0.801;0.801;0.557;0.936;0.409	B;B;B;P;B	0.47645	0.412;0.412;0.215;0.553;0.281	T	0.06356	-1.0831	10	0.51188	T	0.08	-7.396	18.2905	0.90129	0.0:1.0:0.0:0.0	.	105;105;27;105;122	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	L	122;105;105	ENSP00000337732:S122L;ENSP00000420394:S105L;ENSP00000378149:S105L	ENSP00000337732:S122L	S	+	2	0	RUNDC3B	87167748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.402000	0.81655	0.585000	0.79938	TCA		0.383	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		6	42	0	0	0	0.278610	0	6	42				
DNHD1	144132	broad.mit.edu	37	11	6592281	6592281	+	Silent	SNP	A	A	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.chr11:6592281A>C	ENST00000527990.2	+	40	13539	c.13539A>C	c.(13537-13539)gcA>gcC	p.A4513A	DNHD1_ENST00000254579.6_Silent_p.A4513A			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4513					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGAAGGGCGCACCCCCGTGCC	0.677																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13537-13539)gcA>gcC		dynein heavy chain domain 1							27.0	33.0	31.0					11																	6592281		2049	4188	6237	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592281A>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13539A>C	11.37:g.6592281A>C						DNHD1_ENST00000527990.2_Silent_p.A4513A	p.A4513A	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	14103	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4513					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.13539A>C	CCDS44532.1																																																																																				0.677	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		5	32	0	0	0	0.539581	0	5	32				
SHROOM3	57619	broad.mit.edu	37	4	77660025	77660025	+	Silent	SNP	A	A	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.chr4:77660025A>C	ENST00000296043.6	+	5	1652	c.699A>C	c.(697-699)ccA>ccC	p.P233P	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	233					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGCATACCCACCCTGTCATC	0.572																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(697-699)ccA>ccC		shroom family member 3							79.0	80.0	80.0					4																	77660025		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660025A>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.699A>C	4.37:g.77660025A>C						SHROOM3_ENST00000473602.1_3'UTR	p.P233P	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1652	+			233					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.699A>C	CCDS3579.2																																																																																				0.572	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	84	0	0	0	0.278610	0	5	84				
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_ENST00000367961.4_Missense_Mutation_p.L55P|FCGR2B_ENST00000236937.9_Missense_Mutation_p.L62P|FCGR2B_ENST00000367962.4_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	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																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0											c.(184-186)cTc>cCc		Fc fragment of IgG, low affinity IIb, receptor (CD32)	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_ENST00000236937.9_Missense_Mutation_p.L62P|FCGR2B_ENST00000428605.2_Missense_Mutation_p.L62P|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L55P|FCGR2B_ENST00000358671.5_Missense_Mutation_p.L62P|FCGR2B_ENST00000403078.3_Missense_Mutation_p.L62P|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L55P	p.L62P			P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	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	0.639603	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)	ENST00000296755.7																			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		microtubule-associated protein 1B							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						p.S1994F	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6279	+		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	0.335167	0	8	228				
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_ENST00000400794.3_Missense_Mutation_p.V467L|WDR47_ENST00000361054.3_Missense_Mutation_p.V431L|WDR47_ENST00000369965.4_Missense_Mutation_p.V460L|WDR47_ENST00000357672.3_Missense_Mutation_p.V431L			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																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1291-1293)Gtg>Ctg		WD repeat domain 47							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_ENST00000369962.3_Missense_Mutation_p.V459L|WDR47_ENST00000369965.4_Missense_Mutation_p.V460L|WDR47_ENST00000361054.3_Missense_Mutation_p.V431L|WDR47_ENST00000400794.3_Missense_Mutation_p.V467L	p.V431L			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	1666	-		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.1291G>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	0.335167	0	10	128				
PLS3	5358	broad.mit.edu	37	X	114871228	114871228	+	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.chrX:114871228G>A	ENST00000420625.2	+	8	963	c.829G>A	c.(829-831)Gca>Aca	p.A277T	PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000289290.3_Missense_Mutation_p.A232T	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	277	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCTTAGATGGGCAAACTTTCA	0.388																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(829-831)Gca>Aca		plastin 3							124.0	125.0	125.0					X																	114871228		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114871228G>A	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.829G>A	X.37:g.114871228G>A	ENSP00000398945:p.Ala277Thr					PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000289290.3_Missense_Mutation_p.A232T	p.A277T	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			8	963	+			277			Actin-binding 1.|CH 2.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.829G>A	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679800	0.88542	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.66	5.66	0.87406	Calponin homology domain (5);	0.095206	0.64402	D	0.000001	D	0.94394	0.8197	M	0.65975	2.015	0.80722	D	1	B;P;P	0.42620	0.242;0.785;0.636	B;B;B	0.43809	0.164;0.236;0.432	D	0.94546	0.7749	10	0.54805	T	0.06	-11.3604	17.1434	0.86760	0.0:0.0:1.0:0.0	.	250;255;277	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	T	277;255;232;277;232	ENSP00000348163:A277T;ENSP00000445105:A255T;ENSP00000289290:A232T;ENSP00000398945:A277T;ENSP00000445339:A232T	ENSP00000289290:A232T	A	+	1	0	PLS3	114777484	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.363000	0.80096	0.538000	0.68166	GCA		0.388	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			4	207	0	0	0	0.150653	0	4	207				
PIWIL1	9271	broad.mit.edu	37	12	130847544	130847544	+	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.chr12:130847544A>G	ENST00000245255.3	+	18	2322	c.2050A>G	c.(2050-2052)Agg>Ggg	p.R684G		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	684	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGCGGCTCTGAGGGCTTGGAA	0.507																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(2050-2052)Agg>Ggg		piwi-like RNA-mediated gene silencing 1							100.0	101.0	100.0					12																	130847544		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130847544A>G	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2050A>G	12.37:g.130847544A>G	ENSP00000245255:p.Arg684Gly						p.R684G	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	18	2322	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		684			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2050A>G	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473898	0.43942	.	.	ENSG00000125207	ENST00000245255	T	0.32988	1.43	5.49	-4.43	0.03568	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.106561	0.64402	D	0.000003	T	0.31979	0.0814	L	0.61036	1.89	0.44085	D	0.996841	P;P	0.36086	0.536;0.486	B;B	0.36922	0.229;0.236	T	0.42327	-0.9458	10	0.51188	T	0.08	-15.8911	20.4835	0.99199	0.2175:0.7825:0.0:0.0	.	684;684	Q96J94;Q96J94-2	PIWL1_HUMAN;.	G	684	ENSP00000245255:R684G	ENSP00000245255:R684G	R	+	1	2	PIWIL1	129413497	1.000000	0.71417	0.891000	0.34965	0.833000	0.47200	2.081000	0.41596	-0.611000	0.05709	-0.644000	0.03951	AGG		0.507	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			3	95	0	0	0	0.115264	0	3	95				
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_ENST00000539796.1_Silent_p.S102S|MEF2C_ENST00000504921.2_Silent_p.S150S|MEF2C_ENST00000340208.5_Silent_p.S168S|MEF2C_ENST00000424173.2_Silent_p.S148S|MEF2C_ENST00000510942.1_Silent_p.S150S|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000508569.1_Silent_p.S150S|MEF2C_ENST00000514028.1_Silent_p.S150S|MEF2C_ENST00000514015.1_Silent_p.S150S|MEF2C_ENST00000506554.1_Silent_p.S150S	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)																												ENST00000504921.2																			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.(448-450)tcC>tcG		myocyte enhancer factor 2C							140.0	142.0	141.0					5																	88047813		1952	4164	6116	SO:0001819	synonymous_variant	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 signaling pathway|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_ENST00000510942.1_Silent_p.S150S|MEF2C_ENST00000437473.2_Silent_p.S150S|MEF2C_ENST00000508569.1_Silent_p.S150S|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Silent_p.S150S|MEF2C_ENST00000340208.5_Silent_p.S168S|MEF2C_ENST00000539796.1_Silent_p.S102S|MEF2C_ENST00000514028.1_Silent_p.S150S|MEF2C_ENST00000514015.1_Silent_p.S150S|MEF2C_ENST00000424173.2_Silent_p.S148S	p.S150S			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	5	1122	-		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.450C>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	0.760397	0	32	70				
FAM86A	196483	broad.mit.edu	37	16	5135699	5135699	+	Silent	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.chr16:5135699A>G	ENST00000427587.4	-	8	995	c.927T>C	c.(925-927)cgT>cgC	p.R309R	FAM86A_ENST00000587133.1_Silent_p.R248R|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Silent_p.R275R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	309						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TCTGCTCATGACGAGGTTCCA	0.527																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(925-927)cgT>cgC		family with sequence similarity 86, member A							145.0	132.0	136.0					16																	5135699		2197	4300	6497	SO:0001819	synonymous_variant	196483							g.chr16:5135699A>G	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.927T>C	16.37:g.5135699A>G						ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000587133.1_Silent_p.R248R|FAM86A_ENST00000458008.4_Silent_p.R275R	p.R309R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			8	995	-			309					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.927T>C	CCDS10529.1																																																																																				0.527	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		3	142	0	0	0	0.150653	0	3	142				
NGFRAP1	27018	broad.mit.edu	37	X	102632423	102632423	+	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.chrX:102632423G>A	ENST00000372645.3	+	3	331	c.4G>A	c.(4-6)Gca>Aca	p.A2T	NGFRAP1_ENST00000299872.7_Missense_Mutation_p.A2T|NGFRAP1_ENST00000361298.4_Intron|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.A2T|NGFRAP1_ENST00000372634.1_Intron			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	2					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCTCATCATGGCAAATATTCA	0.468																																						ENST00000372645.3																			0				NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(4-6)Gca>Aca		nerve growth factor receptor (TNFRSF16) associated protein 1							98.0	105.0	102.0					X																	102632423		2202	4300	6502	SO:0001583	missense	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632423G>A	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.4G>A	X.37:g.102632423G>A	ENSP00000361728:p.Ala2Thr					NGFRAP1_ENST00000372634.1_Intron|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.A2T|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.A2T|NGFRAP1_ENST00000361298.4_Intron	p.A2T			Q00994	BEX3_HUMAN			3	331	+			2					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Missense_Mutation	SNP	ENST00000372645.3	37	c.4G>A	CCDS14508.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788041	0.70337	.	.	ENSG00000166681	ENST00000372645;ENST00000372635;ENST00000299872	T;T;T	0.09723	2.95;2.95;2.95	3.53	3.53	0.40419	.	0.345645	0.21214	N	0.078258	T	0.12732	0.0309	N	0.08118	0	0.29960	N	0.81948	D	0.62365	0.991	D	0.66602	0.945	T	0.02596	-1.1136	10	0.72032	D	0.01	-2.453	9.6165	0.39694	0.0:0.0:1.0:0.0	.	2	Q00994	BEX3_HUMAN	T	2	ENSP00000361728:A2T;ENSP00000361718:A2T;ENSP00000299872:A2T	ENSP00000299872:A2T	A	+	1	0	NGFRAP1	102519079	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.305000	0.51873	2.016000	0.59253	0.600000	0.82982	GCA		0.468	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		4	190	0	0	0	0.184627	0	4	190				
DGKG	1608	broad.mit.edu	37	3	186006581	186006581	+	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.chr3:186006581C>T	ENST00000265022.3	-	6	1001	c.462G>A	c.(460-462)tcG>tcA	p.S154S	DGKG_ENST00000344484.4_Silent_p.S154S|DGKG_ENST00000544847.1_Silent_p.S154S|DGKG_ENST00000382164.4_Silent_p.S154S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	154	Poly-Ser.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.S154S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTGGGGATTCCGAGCTTGAAG	0.567																																						ENST00000265022.3																			1	Substitution - coding silent(1)	p.S154S(1)	upper_aerodigestive_tract(1)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(460-462)tcG>tcA		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						136.0	148.0	144.0					3																	186006581		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186006581C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.462G>A	3.37:g.186006581C>T						DGKG_ENST00000382164.4_Silent_p.S154S|DGKG_ENST00000344484.4_Silent_p.S154S|DGKG_ENST00000544847.1_Silent_p.S154S	p.S154S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	6	1001	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		154			Poly-Ser.		B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.462G>A	CCDS3274.1																																																																																				0.567	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			4	266	0	0	0	0.184627	0	4	266				
IGDCC4	57722	broad.mit.edu	37	15	65678310	65678310	+	Silent	SNP	T	T	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.chr15:65678310T>G	ENST00000352385.2	-	18	3248	c.3039A>C	c.(3037-3039)ccA>ccC	p.P1013P	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1013						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CATGGGCAGCTGGGGGGCTGG	0.667											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3037-3039)ccA>ccC		immunoglobulin superfamily, DCC subclass, member 4							10.0	12.0	11.0					15																	65678310		2109	4164	6273	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65678310T>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3039A>C	15.37:g.65678310T>G			OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.P1013P	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			18	3248	-			1013					Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.3039A>C	CCDS10206.1																																																																																				0.667	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		4	13	0	0	0	0.307466	0	4	13				
OR3A3	8392	broad.mit.edu	37	17	3324352	3324352	+	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.chr17:3324352A>G	ENST00000291231.1	+	1	491	c.491A>G	c.(490-492)aAc>aGc	p.N164S		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	164					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GCCTTCACCAACGCACTGACC	0.592																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(490-492)aAc>aGc		olfactory receptor, family 3, subfamily A, member 3							167.0	152.0	157.0					17																	3324352		2203	4300	6503	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324352A>G	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.491A>G	17.37:g.3324352A>G	ENSP00000291231:p.Asn164Ser						p.N164S	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	491	+			164					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.491A>G	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446801	0.43429	.	.	ENSG00000159961	ENST00000291231	T	0.36699	1.24	2.52	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37320	0.0999	L	0.31157	0.91	0.23459	N	0.997633	P	0.44195	0.828	P	0.53102	0.718	T	0.11842	-1.0571	9	0.48119	T	0.1	.	8.5622	0.33518	1.0:0.0:0.0:0.0	.	164	P47888	OR3A3_HUMAN	S	164	ENSP00000291231:N164S	ENSP00000291231:N164S	N	+	2	0	OR3A3	3271102	0.000000	0.05858	0.786000	0.31890	0.659000	0.38960	-0.929000	0.03976	1.384000	0.46424	0.529000	0.55759	AAC		0.592	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			3	188	0	0	0	0.115264	0	3	188				
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																																						ENST00000268489.5																			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		zinc finger homeobox 3							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_ENST00000397992.5_Missense_Mutation_p.G108D	p.G1022D	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			3	3737	-		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	0.115264	0	3	47				
PEX19	5824	broad.mit.edu	37	1	160249975	160249975	+	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.chr1:160249975T>C	ENST00000368072.5	-	6	677	c.656A>G	c.(655-657)cAg>cGg	p.Q219R	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.Q72R|PEX19_ENST00000440949.3_Missense_Mutation_p.Q129R|DCAF8_ENST00000608310.1_Missense_Mutation_p.Q72R	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	219					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGCTCCTGATATTTTTC	0.448																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(655-657)cAg>cGg		peroxisomal biogenesis factor 19							173.0	170.0	171.0					1																	160249975		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160249975T>C	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.656A>G	1.37:g.160249975T>C	ENSP00000357051:p.Gln219Arg					PEX19_ENST00000440949.3_Missense_Mutation_p.Q129R|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.Q72R	p.Q219R	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			BRCA - Breast invasive adenocarcinoma(70;0.111)		6	677	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.656A>G	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113250	0.77210	.	.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	T;T	0.63096	-0.02;-0.02	5.66	3.32	0.38043	.	0.177837	0.49305	D	0.000154	T	0.25754	0.0627	N	0.12182	0.205	0.39909	D	0.974002	B;B	0.30068	0.267;0.002	B;B	0.36378	0.223;0.004	T	0.08848	-1.0702	10	0.38643	T	0.18	-0.8799	6.5253	0.22297	0.1401:0.0767:0.0:0.7831	.	72;219	G3V3G9;P40855	.;PEX19_HUMAN	R	72;72;89;219;199;129;199	ENSP00000451989:Q72R;ENSP00000451235:Q72R	ENSP00000357051:Q219R	Q	-	2	0	RP11-574F21.3;PEX19;DCAF8	158516599	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	3.175000	0.50855	0.932000	0.37266	0.460000	0.39030	CAG		0.448	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		4	199	0	0	0	0.150653	0	4	199				
GPRASP1	9737	broad.mit.edu	37	X	101912092	101912092	+	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.chrX:101912092G>A	ENST00000361600.5	+	5	4052	c.3251G>A	c.(3250-3252)gGc>gAc	p.G1084D	GPRASP1_ENST00000415986.1_Missense_Mutation_p.G1084D|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.G1084D|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G1084D	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1084	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATGTTTGGGGGCAAACCCAGG	0.488																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3250-3252)gGc>gAc		G protein-coupled receptor associated sorting protein 1							125.0	128.0	127.0					X																	101912092		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912092G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3251G>A	X.37:g.101912092G>A	ENSP00000355146:p.Gly1084Asp					GPRASP1_ENST00000444152.1_Missense_Mutation_p.G1084D|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G1084D|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G1084D|RP4-769N13.7_ENST00000602441.1_RNA	p.G1084D	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4064	+			1084			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3251G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	8.711	0.912136	0.17907	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	2.84	1.97	0.26223	.	.	.	.	.	T	0.22399	0.0540	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	D	0.66716	0.946	T	0.06552	-1.0820	9	0.62326	D	0.03	-7.2112	5.0117	0.14315	0.176:0.0:0.824:0.0	.	1084	Q5JY77	GASP1_HUMAN	D	1084	ENSP00000393691:G1084D;ENSP00000409420:G1084D;ENSP00000355146:G1084D;ENSP00000445683:G1084D	ENSP00000355146:G1084D	G	+	2	0	GPRASP1	101798748	0.998000	0.40836	0.027000	0.17364	0.879000	0.50718	0.876000	0.28092	0.602000	0.29896	0.284000	0.19432	GGC		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		4	230	0	0	0	0.150653	0	4	230				
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																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(3211-3213)aCa>aTa		FERM and PDZ domain containing 3							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.T1071I			Q5JV73	FRPD3_HUMAN			16	3212	+			1071					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.3212C>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	0.624587	0	20	34				
PCDHGA10	56106	broad.mit.edu	37	5	140795090	140795090	+	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.chr5:140795090T>C	ENST00000398610.2	+	1	2348	c.2348T>C	c.(2347-2349)cTc>cCc	p.L783P	PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	783					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGACACGCTCATCAGCCAG	0.498																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2347-2349)cTc>cCc									95.0	103.0	100.0					5																	140795090		2203	4300	6503	SO:0001583	missense	0							g.chr5:140795090T>C		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2348T>C	5.37:g.140795090T>C	ENSP00000381611:p.Leu783Pro					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.L783P	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2348	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.2348T>C	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	t	19.77	3.889914	0.72524	.	.	ENSG00000253846	ENST00000398610	T	0.52983	0.64	5.42	5.42	0.78866	.	.	.	.	.	T	0.73853	0.3640	M	0.90198	3.095	0.51482	D	0.999924	D;D	0.76494	0.987;0.999	P;D	0.72338	0.883;0.977	T	0.79752	-0.1671	9	0.59425	D	0.04	.	15.4779	0.75501	0.0:0.0:0.0:1.0	.	783;783	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	P	783	ENSP00000381611:L783P	ENSP00000381611:L783P	L	+	2	0	PCDHGA10	140775274	0.004000	0.15560	0.999000	0.59377	0.605000	0.37080	0.858000	0.27845	2.063000	0.61619	0.533000	0.62120	CTC		0.498	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		3	171	0	0	0	0.115264	0	3	171				
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)	ENST00000302103.5																			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		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							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							p.V203V	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	935	+		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	0.457914	0	15	30				
HEATR6	63897	broad.mit.edu	37	17	58120954	58120954	+	Silent	SNP	T	T	C	rs558403592	byFrequency	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.chr17:58120954T>C	ENST00000184956.6	-	20	3532	c.3516A>G	c.(3514-3516)caA>caG	p.Q1172Q	AC005702.2_ENST00000577558.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.1_ENST00000581326.1_RNA|HEATR6_ENST00000585976.1_Silent_p.Q1060Q|AC005702.4_ENST00000583144.1_RNA|AC005702.3_ENST00000582298.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1172							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGAGTGCCCCTTGTGATCCAG	0.507													t|||	11	0.00219649	0.0008	0.0	5008	,	,		18730	0.001		0.0	False		,,,				2504	0.0092					ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(3514-3516)caA>caG		HEAT repeat containing 6							106.0	108.0	108.0					17																	58120954		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58120954T>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3516A>G	17.37:g.58120954T>C						HEATR6_ENST00000585976.1_Silent_p.Q1060Q	p.Q1172Q	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		20	3532	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1172					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.3516A>G	CCDS11623.1																																																																																				0.507	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		3	125	0	0	0	0.115264	0	3	125				
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_ENST00000375247.2_Missense_Mutation_p.P3398S|TNXB_ENST00000451343.1_5'Flank			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																																						ENST00000375244.3																			1	Substitution - Missense(1)	p.P3465S(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10198-10200)Ccg>Tcg		tenascin XB							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_ENST00000375247.2_Missense_Mutation_p.P3398S	p.P3400S			P22105	TENX_HUMAN			30	10399	-			3445			Fibronectin type-III 26.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10198C>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	0.115264	0	3	32				
L1TD1	54596	broad.mit.edu	37	1	62676947	62676947	+	Missense_Mutation	SNP	G	G	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.chr1:62676947G>T	ENST00000498273.1	+	4	2796	c.2501G>T	c.(2500-2502)aGg>aTg	p.R834M	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	834										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tttgattttaggggtaaaaca	0.358																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(2500-2502)aGg>aTg		LINE-1 type transposase domain containing 1							24.0	24.0	24.0					1																	62676947		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62676947G>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.2501G>T	1.37:g.62676947G>T	ENSP00000419901:p.Arg834Met						p.R834M	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			4	2796	+			834					Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.2501G>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133989	0.37630	.	.	ENSG00000240563	ENST00000498273	T	0.13901	2.55	2.67	1.54	0.23209	.	.	.	.	.	T	0.11665	0.0284	N	0.08118	0	0.09310	N	1	P	0.50617	0.937	P	0.56474	0.799	T	0.15780	-1.0425	9	0.72032	D	0.01	.	4.0355	0.09727	0.8136:0.0:0.1864:0.0	.	834	Q5T7N2	LITD1_HUMAN	M	834	ENSP00000419901:R834M	ENSP00000419901:R834M	R	+	2	0	L1TD1	62449535	0.767000	0.28508	0.256000	0.24389	0.689000	0.40095	0.682000	0.25335	0.476000	0.27440	0.305000	0.20034	AGG		0.358	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		3	25	1	0	0.004672	0.115264	0.0051392	3	25				
PRSS55	203074	broad.mit.edu	37	8	10387105	10387105	+	Missense_Mutation	SNP	G	G	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.chr8:10387105G>T	ENST00000328655.3	+	2	283	c.243G>T	c.(241-243)tgG>tgT	p.W81C	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.W81C	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	81	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						AGTTTCCGTGGCAGGTGAGTA	0.522																																						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.(241-243)tgG>tgT		protease, serine, 55							258.0	250.0	252.0					8																	10387105		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387105G>T	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.243G>T	8.37:g.10387105G>T	ENSP00000333003:p.Trp81Cys					PRSS55_ENST00000522210.1_Missense_Mutation_p.W81C|PRSS51_ENST00000523024.1_RNA	p.W81C	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			2	283	+			81			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.243G>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455427	0.63401	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.96073	-3.9;-3.9	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.98178	0.9398	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98321	1.0528	9	0.87932	D	0	.	12.0043	0.53251	0.0:0.0:1.0:0.0	.	81	Q6UWB4	PRS55_HUMAN	C	81	ENSP00000333003:W81C;ENSP00000430459:W81C	ENSP00000333003:W81C	W	+	3	0	PRSS55	10424515	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.623000	0.74238	2.527000	0.85204	0.561000	0.74099	TGG		0.522	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		6	315	1	0	0.00448238	0.307466	0.00503124	6	315				
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																																						ENST00000276480.7																			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		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							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							p.R77R	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			9	914	-		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	0.819951	0	36	175				
RBM14	10432	broad.mit.edu	37	11	66392698	66392698	+	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.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCCTACGCCGCACAAGCCAC	0.617																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1351-1353)Gca>Aca		RNA binding motif protein 14							67.0	73.0	71.0					11																	66392698		2191	4273	6464	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392698G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1351G>A	11.37:g.66392698G>A	ENSP00000311747:p.Ala451Thr					RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron	p.A451T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1490	+			451			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1351G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503682	0.44558	.	.	ENSG00000239306	ENST00000310137	D	0.83250	-1.7	5.75	5.75	0.90469	.	0.113754	0.64402	D	0.000012	D	0.84906	0.5576	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.86495	0.1800	10	0.72032	D	0.01	-2.6928	15.4418	0.75190	0.0:0.0:1.0:0.0	.	451	Q96PK6	RBM14_HUMAN	T	451	ENSP00000311747:A451T	ENSP00000311747:A451T	A	+	1	0	RBM14	66149274	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	3.650000	0.54424	2.720000	0.93068	0.655000	0.94253	GCA		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		5	142	0	0	0	0.184627	0	5	142				
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																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(421-423)ccA>ccG		zinc finger and BTB domain containing 26							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_ENST00000373654.1_Silent_p.P141P	p.P141P	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	496	-			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	0.479597	0	16	83				
NUP88	4927	broad.mit.edu	37	17	5314088	5314088	+	Silent	SNP	C	C	T	rs148748521	byFrequency	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.chr17:5314088C>T	ENST00000573584.1	-	4	1124	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	205					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TGGGTGTCTGCGGCTCACGTA	0.373													c|||	3	0.000599042	0.0023	0.0	5008	,	,		18658	0.0		0.0	False		,,,				2504	0.0					ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(613-615)ccG>ccA		nucleoporin 88kDa		C		4,4402	8.1+/-20.4	0,4,2199	115.0	124.0	121.0		615	-6.4	0.8	17	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUP88	NM_002532.4		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		205/742	5314088	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5314088C>T	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.615G>A	17.37:g.5314088C>T							p.P205P	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			4	1124	-			205					D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	c.615G>A	CCDS11070.1																																																																																				0.373	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		4	204	0	0	0	0.150653	0	4	204				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	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.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	47	0	0	0	0.150653	0	4	47				
IGF2BP3	10643	broad.mit.edu	37	7	23387327	23387327	+	Missense_Mutation	SNP	G	G	A	rs202212306		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.chr7:23387327G>A	ENST00000258729.3	-	7	1066	c.710C>T	c.(709-711)gCg>gTg	p.A237V		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	237	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.A237V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGCAGCCCCCGCATTTTCTTT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17483	0.0		0.0	False		,,,				2504	0.0					ENST00000258729.3																			1	Substitution - Missense(1)	p.A237V(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(709-711)gCg>gTg		insulin-like growth factor 2 mRNA binding protein 3		G	VAL/ALA	0,4406		0,0,2203	93.0	85.0	88.0		710	6.1	1.0	7		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2BP3	NM_006547.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	237/580	23387327	1,13005	2203	4300	6503	SO:0001583	missense	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23387327G>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.710C>T	7.37:g.23387327G>A	ENSP00000258729:p.Ala237Val						p.A237V	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			7	1066	-			237			KH 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	c.710C>T	CCDS5382.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	23.9	4.474605	0.84640	0.0	1.16E-4	ENSG00000136231	ENST00000258729	T	0.42513	0.97	6.07	6.07	0.98685	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.045776	0.85682	D	0.000000	T	0.46560	0.1399	L	0.31476	0.935	0.58432	D	0.999999	D	0.53619	0.961	P	0.54210	0.745	T	0.08186	-1.0734	10	0.15952	T	0.53	-14.529	20.6439	0.99570	0.0:0.0:1.0:0.0	.	237	O00425	IF2B3_HUMAN	V	237	ENSP00000258729:A237V	ENSP00000258729:A237V	A	-	2	0	IGF2BP3	23353852	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.414000	0.97362	2.890000	0.99128	0.650000	0.86243	GCG		0.468	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		4	70	0	0	0	0.184627	0	4	70				
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																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(241-243)gtG>gtA		olfactory receptor, family 8, subfamily K, member 5							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_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	242	-	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	0.217242	0	5	70				
SAMD5	389432	broad.mit.edu	37	6	147830216	147830216	+	Missense_Mutation	SNP	A	A	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.chr6:147830216A>C	ENST00000367474.1	+	1	154	c.152A>C	c.(151-153)cAc>cCc	p.H51P		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	51	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GCGCCCGCGCACCGCCGCCGT	0.716																																						ENST00000367474.1																			0											c.(151-153)cAc>cCc		sterile alpha motif domain containing 5																																				SO:0001583	missense	389432							g.chr6:147830216A>C	AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"""Sterile alpha motif (SAM) domain containing"""	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.152A>C	6.37:g.147830216A>C	ENSP00000356444:p.His51Pro						p.H51P	NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)	1	154	+		Ovarian(120;0.0907)	51			SAM.			Missense_Mutation	SNP	ENST00000367474.1	37	c.152A>C	CCDS34548.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645029	0.87859	.	.	ENSG00000203727	ENST00000367474	T	0.62498	0.02	4.1	4.1	0.47936	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	M	0.82056	2.57	0.50171	D	0.999857	D	0.76494	0.999	D	0.87578	0.998	T	0.77574	-0.2537	10	0.87932	D	0	-8.6847	11.3199	0.49415	1.0:0.0:0.0:0.0	.	51	Q5TGI4	SAMD5_HUMAN	P	51	ENSP00000356444:H51P	ENSP00000356444:H51P	H	+	2	0	SAMD5	147871909	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.527000	0.81931	1.478000	0.48253	0.377000	0.23210	CAC		0.716	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060		7	5	0	0	0	0.435327	0	7	5				
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_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.A603G|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																																						ENST00000401073.2																			0				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		KIAA1522							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_ENST00000373480.1_Missense_Mutation_p.A544G|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A555G	p.A603G	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1878	+		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	0.248553	0	6	66				
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																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(598-600)Gtc>Ttc		olfactory receptor, family 4, subfamily N, member 5							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_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	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	1	0	0.000274275	0.307466	0.000314274	7	96				
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)	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		27	49	0	0	0	0.706142	0	27	49				
MARC1	64757	broad.mit.edu	37	1	220971259	220971259	+	Missense_Mutation	SNP	C	C	T	rs150590210	byFrequency	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.chr1:220971259C>T	ENST00000366910.5	+	4	842	c.656C>T	c.(655-657)gCg>gTg	p.A219V	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	219	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CTTTCTGAGGCGTCGCTGGCG	0.438													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21591	0.0		0.0	False		,,,				2504	0.0					ENST00000366910.5																			0											c.(655-657)gCg>gTg		mitochondrial amidoxime reducing component 1		C	VAL/ALA	0,4406		0,0,2203	120.0	113.0	115.0		656	3.9	0.8	1	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	MOSC1	NM_022746.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	219/338	220971259	1,13005	2203	4300	6503	SO:0001583	missense	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220971259C>T	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.656C>T	1.37:g.220971259C>T	ENSP00000355877:p.Ala219Val					MARC1_ENST00000496110.1_3'UTR	p.A219V	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN			4	842	+			219			MOSC.		A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	c.656C>T	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665705	0.47677	0.0	1.16E-4	ENSG00000186205	ENST00000366910;ENST00000443880	T;T	0.23754	1.89;1.89	4.82	3.9	0.45041	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.000000	0.64402	D	0.000004	T	0.57213	0.2038	M	0.91406	3.205	0.58432	D	0.999992	D;D	0.89917	1.0;0.997	D;D	0.72338	0.977;0.929	T	0.67558	-0.5640	10	0.87932	D	0	-2.6326	12.8451	0.57825	0.0:0.9199:0.0:0.0801	.	219;219	Q5VT66-2;Q5VT66	.;MOSC1_HUMAN	V	219;32	ENSP00000355877:A219V;ENSP00000409634:A32V	ENSP00000355877:A219V	A	+	2	0	MOSC1	219037882	0.992000	0.36948	0.805000	0.32314	0.008000	0.06430	3.168000	0.50801	1.148000	0.42385	0.563000	0.77884	GCG		0.438	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		4	76	0	0	0	0.150653	0	4	76				
IGHV4-39	28394	broad.mit.edu	37	14	106877797	106877797	+	RNA	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.chr14:106877797C>T	ENST00000390619.2	-	0	246									immunoglobulin heavy variable 4-39																		TGGGGGCTGGCGGATCCAGCC	0.577																																						ENST00000390619.2																			0																				75.0	60.0	64.0					14																	106877797		1863	4086	5949			0							g.chr14:106877797C>T	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877797C>T														0	246	-									RNA	SNP	ENST00000390619.2	37																																																																																						0.577	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		4	115	0	0	0	0.150653	0	4	115				
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	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_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																													ENST00000403437.2																			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		myosin, heavy chain 8, skeletal muscle, perinatal							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	actin binding|ATP 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						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.L1825L	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			38	5569	-			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	0.248553	0	7	159				
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs34075690|rs148192373	byFrequency	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.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													?|GGGGGG|GGGGG|unsure	2948	0.588658	0.5439	0.6398	5008	,	,		18076	0.5258		0.6143	False		,,,				2504	0.6513					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17720687delG	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720687delG										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1233	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.587	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		8	7						8	7	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		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.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			4	2						4	2	---	---	---	---
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																																						ENST00000296084.4																			0				lung(1)|ovary(3)	4						c.(460-462)gfs		receptor-like tyrosine kinase																																				SO:0001589	frameshift_variant	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	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_ENST00000427044.2_5'UTR	p.E154fs	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN			5	460_461	-			153			WIF.		Q04696	Frame_Shift_Del	DEL	ENST00000296084.4	37	c.461_462delAG																																																																																					0.272	RYK-201	KNOWN	basic	protein_coding	protein_coding		NM_001005861		2	4						2	4	---	---	---	---
SNORD3D	780854	broad.mit.edu	37	17	19015877	19015878	+	lincRNA	INS	-	-	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.chr17:19015877_19015878insA	ENST00000362793.1	-	0	71_72									small nucleolar RNA, C/D box 3D																		cctcggggttttcggtgctcta	0.5																																						ENST00000362793.1																			0																	5,339		0,5,167							0.0			2	9,1373		2,5,684	no	intergenic				2,10,851	A1A1,A1R,RR		0.6512,1.4535,0.8111				14,1712						0							g.chr17:19015877_19015878insA			17p11.2	2013-09-05			ENSG00000199663				33192	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006882		Approved	U3-4					17.37:g.19015877_19015878insA														0	71_72	-									RNA	INS	ENST00000362793.1	37																																																																																						0.500	SNORD3D-201	KNOWN	basic	snoRNA	lincRNA		NR_006882		4	7						4	7	---	---	---	---
