#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
DCHS2	54798	broad.mit.edu	37	4	155256174	155256174	+	Silent	SNP	C	C	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr4:155256174C>G	ENST00000357232.4	-	8	1061	c.1062G>C	c.(1060-1062)ggG>ggC	p.G354G	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G853G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	354	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G853G(1)|p.G354G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGCTGTGAGCCCACCACCGT	0.423																																						ENST00000357232.3																			2	Substitution - coding silent(2)	p.G853G(1)|p.G354G(1)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1060-1062)ggG>ggC		dachsous cadherin-related 2							104.0	105.0	105.0					4																	155256174		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155256174C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1062G>C	4.37:g.155256174C>G						DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G853G	p.G354G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	8	1061	-	all_hematologic(180;0.208)	Renal(120;0.0854)	354			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1062G>C	CCDS3785.1																																																																																				0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		28	132	0	0	0	1	0	28	132				
ATP6V1C2	245973	broad.mit.edu	37	2	10918726	10918726	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:10918726A>C	ENST00000272238.4	+	12	1101	c.992A>C	c.(991-993)aAc>aCc	p.N331T	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.N285T	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	331					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.N285T(1)|p.N331T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCAAGGTGAACTTCAGTGAA	0.602																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			2	Substitution - Missense(2)	p.N285T(1)|p.N331T(1)	prostate(2)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(853-855)aAc>aCc		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							112.0	105.0	107.0					2																	10918726		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10918726A>C	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.992A>C	2.37:g.10918726A>C	ENSP00000272238:p.Asn331Thr					ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.N331T	p.N285T	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	963	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		331					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.854A>C	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348707	0.82132	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.47177	0.85;0.85	5.74	4.58	0.56647	.	0.049711	0.85682	D	0.000000	T	0.66346	0.2780	M	0.79475	2.455	0.80722	D	1	D;D	0.61697	0.99;0.985	P;D	0.65874	0.894;0.939	T	0.69702	-0.5074	10	0.87932	D	0	-13.7503	11.7819	0.52020	0.931:0.0:0.069:0.0	.	285;331	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	T	331;285	ENSP00000272238:N331T;ENSP00000371077:N285T	ENSP00000272238:N331T	N	+	2	0	ATP6V1C2	10836177	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.249000	0.95470	1.001000	0.39076	0.402000	0.26972	AAC		0.602	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		21	100	0	0	0	1	0	21	100				
DNMT1	1786	broad.mit.edu	37	19	10265299	10265299	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:10265299C>T	ENST00000340748.4	-	20	1982	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	DNMT1_ENST00000540357.1_Missense_Mutation_p.D583N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D599N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	583	Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D583N(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTGATCAGGTCCCGCATGCAG	0.622																																						ENST00000340748.4																			2	Substitution - Missense(2)	p.D583N(2)	prostate(2)	breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1747-1749)Gac>Aac		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						67.0	57.0	60.0					19																	10265299		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10265299C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1747G>A	19.37:g.10265299C>T	ENSP00000345739:p.Asp583Asn					DNMT1_ENST00000540357.1_Missense_Mutation_p.D583N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D599N	p.D583N			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		20	1982	-			583			Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.1747G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960018	0.53400	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23950	1.88;1.88;1.88	5.78	2.45	0.29901	.	0.191503	0.53938	N	0.000059	T	0.25531	0.0621	L	0.55481	1.735	0.44677	D	0.997664	P;P;P	0.44521	0.837;0.837;0.749	P;P;B	0.44597	0.454;0.454;0.266	T	0.01692	-1.1294	10	0.48119	T	0.1	.	7.3949	0.26931	0.1275:0.6817:0.1228:0.068	.	583;599;583	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	599;583;583;451	ENSP00000352516:D599N;ENSP00000440457:D583N;ENSP00000345739:D583N	ENSP00000345739:D583N	D	-	1	0	DNMT1	10126299	1.000000	0.71417	0.150000	0.22450	0.081000	0.17604	5.879000	0.69690	0.443000	0.26582	-0.165000	0.13383	GAC		0.622	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		25	98	0	0	0	1	0	25	98				
HEPHL1	341208	broad.mit.edu	37	11	93803647	93803647	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:93803647T>C	ENST00000315765.9	+	6	1179	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	391	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.W392R(1)|p.W391R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAAAATTCTTTGGGATTATGC	0.438																																						ENST00000315765.9																			2	Substitution - Missense(2)	p.W392R(1)|p.W391R(1)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1171-1173)Tgg>Cgg		hephaestin-like 1							56.0	51.0	52.0					11																	93803647		1832	4084	5916	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93803647T>C	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1171T>C	11.37:g.93803647T>C	ENSP00000313699:p.Trp391Arg						p.W391R	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			6	1179	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	391			Plastocyanin-like 3.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1171T>C	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332096	0.81801	.	.	ENSG00000181333	ENST00000315765	D	0.99353	-5.77	5.7	5.7	0.88788	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	M	0.93283	3.4	0.53005	D	0.999964	D	0.89917	1.0	D	0.85130	0.997	D	0.98039	1.0381	10	0.72032	D	0.01	.	15.9692	0.79998	0.0:0.0:0.0:1.0	.	391	Q6MZM0	HPHL1_HUMAN	R	391	ENSP00000313699:W391R	ENSP00000313699:W391R	W	+	1	0	HEPHL1	93443295	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	7.091000	0.76923	2.162000	0.67917	0.528000	0.53228	TGG		0.438	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		15	33	0	0	0	1	0	15	33				
RTN4R	65078	broad.mit.edu	37	22	20230164	20230164	+	Missense_Mutation	SNP	G	G	T	rs368044171		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr22:20230164G>T	ENST00000043402.7	-	2	930	c.492C>A	c.(490-492)aaC>aaA	p.N164K	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	164					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.N164K(1)		lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					CCTGCAGCGCGTTGTCCTGCA	0.687																																						ENST00000043402.7																			1	Substitution - Missense(1)	p.N164K(1)	prostate(1)	lung(1)|ovary(1)|prostate(1)	3						c.(490-492)aaC>aaA		reticulon 4 receptor							56.0	47.0	50.0					22																	20230164		2203	4300	6503	SO:0001583	missense	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20230164G>T	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.492C>A	22.37:g.20230164G>T	ENSP00000043402:p.Asn164Lys					RTN4R_ENST00000469601.1_5'UTR	p.N164K	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN			2	930	-	Colorectal(54;0.0993)		164					D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	c.492C>A	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.073151|3.073151	0.55646|0.55646	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000043402|ENST00000416372;ENST00000425986	T|.	0.74421|.	-0.84|.	4.1|4.1	-1.7|-1.7	0.08159|0.08159	.|.	0.000000|.	0.38959|.	N|.	0.001506|.	T|T	0.77928|0.77928	0.4204|0.4204	H|H	0.98951|0.98951	4.38|4.38	0.28337|0.28337	N|N	0.921514|0.921514	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.70124|0.70124	-0.4958|-0.4958	10|5	0.62326|.	D|.	0.03|.	.|.	8.3047|8.3047	0.32036|0.32036	0.4504:0.0:0.5496:0.0|0.4504:0.0:0.5496:0.0	.|.	164|.	Q9BZR6|.	RTN4R_HUMAN|.	K|K	164|184;250	ENSP00000043402:N164K|.	ENSP00000043402:N164K|.	N|T	-|-	3|2	2|0	RTN4R|RTN4R	18610164|18610164	0.000000|0.000000	0.05858|0.05858	0.041000|0.041000	0.18516|0.18516	0.923000|0.923000	0.55619|0.55619	-0.873000|-0.873000	0.04214|0.04214	-0.321000|-0.321000	0.08627|0.08627	0.561000|0.561000	0.74099|0.74099	AAC|ACG		0.687	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			11	52	1	0	6.40141e-05	1	6.52451e-05	11	52				
HSPA1B	3304	broad.mit.edu	37	6	31797488	31797488	+	Silent	SNP	C	C	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:31797488C>G	ENST00000375650.3	+	1	1977	c.1761C>G	c.(1759-1761)gcC>gcG	p.A587A	HSPA1B_ENST00000545241.1_Silent_p.A496A	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	587					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)	p.A587A(1)		breast(1)|large_intestine(1)|prostate(1)	3						ACACCTTGGCCGAGAAGGACG	0.597																																						ENST00000375650.3																			1	Substitution - coding silent(1)	p.A587A(1)	prostate(1)	breast(1)|large_intestine(1)|prostate(1)	3						c.(1759-1761)gcC>gcG		heat shock 70kDa protein 1B							50.0	39.0	43.0					6																	31797488		1650	3394	5044	SO:0001819	synonymous_variant	3304				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31797488C>G		CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"""Heat shock proteins / HSP70"""	5233	protein-coding gene	gene with protein product		603012	"""heat shock 70kD protein 1B"""			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1761C>G	6.37:g.31797488C>G						HSPA1B_ENST00000545241.1_Silent_p.A496A	p.A587A	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN			1	1977	+			587					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375650.3	37	c.1761C>G	CCDS34415.1																																																																																				0.597	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076402.2			9	48	0	0	0	1	0	9	48				
ITGAD	3681	broad.mit.edu	37	16	31427932	31427932	+	Missense_Mutation	SNP	G	G	A	rs143518464		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:31427932G>A	ENST00000389202.2	+	20	2513	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	822					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.A822T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTACTATCCAGCAGGGCTGTC	0.622																																						ENST00000389202.2																			2	Substitution - Missense(2)	p.A822T(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2464-2466)Gca>Aca		integrin, alpha D							93.0	88.0	89.0					16																	31427932		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31427932G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2464G>A	16.37:g.31427932G>A	ENSP00000373854:p.Ala822Thr						p.A822T	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			20	2513	+			822					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2464G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	6.360	0.434594	0.12045	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.48836	0.8	4.77	2.81	0.32909	Integrin alpha-2 (1);	.	.	.	.	T	0.38799	0.1054	L	0.54323	1.7	0.29169	N	0.877242	B;B	0.26081	0.141;0.141	B;B	0.22386	0.039;0.039	T	0.29305	-1.0016	9	0.28530	T	0.3	.	6.9072	0.24315	0.122:0.4699:0.408:0.0	.	838;822	Q59H14;Q13349	.;ITAD_HUMAN	T	838;822	ENSP00000373854:A822T	ENSP00000373854:A822T	A	+	1	0	ITGAD	31335433	0.000000	0.05858	0.996000	0.52242	0.069000	0.16628	-0.056000	0.11787	0.438000	0.26450	-0.145000	0.13849	GCA		0.622	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		41	132	0	0	0	1	0	41	132				
RAC1	5879	broad.mit.edu	37	7	6431629	6431629	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:6431629A>G	ENST00000348035.4	+	3	395	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.Q61R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	61					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.Q61R(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	ACAGCTGGACAAGAAGATTAT	0.403																																						ENST00000348035.4																			1	Substitution - Missense(1)	p.Q61R(1)	prostate(1)	cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(181-183)cAa>cGa		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						121.0	117.0	118.0					7																	6431629		2203	4298	6501	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6431629A>G	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.182A>G	7.37:g.6431629A>G	ENSP00000258737:p.Gln61Arg					RAC1_ENST00000356142.4_Missense_Mutation_p.Q61R|RAC1_ENST00000488373.1_3'UTR	p.Q61R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	3	395	+		Ovarian(82;0.0776)	61					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.182A>G	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802800	0.90623	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.83673	-1.75;-1.75	5.29	5.29	0.74685	Small GTP-binding protein domain (1);	0.109676	0.64402	D	0.000006	D	0.93174	0.7826	M	0.94021	3.485	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.988	D	0.94891	0.8048	10	0.87932	D	0	.	15.5269	0.75919	1.0:0.0:0.0:0.0	.	61;61	P63000;A4D2P0	RAC1_HUMAN;.	R	61	ENSP00000258737:Q61R;ENSP00000348461:Q61R	ENSP00000258737:Q61R	Q	+	2	0	RAC1	6398154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.283000	0.95860	2.128000	0.65567	0.528000	0.53228	CAA		0.403	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		12	226	0	0	0	1	0	12	226				
PI16	221476	broad.mit.edu	37	6	36927000	36927000	+	Missense_Mutation	SNP	G	G	A	rs139393851	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:36927000G>A	ENST00000373674.3	+	2	579	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	84	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.R84H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCGCGGGCGCCGCGGCGAG	0.667													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16075	0.0		0.0	False		,,,				2504	0.0					ENST00000373674.3																			1	Substitution - Missense(1)	p.R84H(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(250-252)cGc>cAc		peptidase inhibitor 16		G	HIS/ARG,HIS/ARG	1,4393		0,1,2196	25.0	22.0	23.0		251,251	1.5	0.3	6	dbSNP_134	23	0,8594		0,0,4297	no	missense,missense	PI16	NM_001199159.1,NM_153370.2	29,29	0,1,6493	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	84/464,84/464	36927000	1,12987	2197	4297	6494	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36927000G>A		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.251G>A	6.37:g.36927000G>A	ENSP00000362778:p.Arg84His						p.R84H	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN			2	579	+			84					Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.251G>A	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261781	0.80358	2.28E-4	0.0	ENSG00000164530	ENST00000536757;ENST00000373674	T	0.09723	2.95	5.29	1.51	0.23008	CAP domain (3);	0.171941	0.39407	N	0.001376	T	0.06142	0.0159	L	0.58969	1.84	0.09310	N	0.999999	D;P	0.53462	0.96;0.906	P;B	0.52627	0.704;0.415	T	0.18903	-1.0322	10	0.51188	T	0.08	.	2.2841	0.04122	0.2166:0.1304:0.5183:0.1346	.	84;84	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	H	84	ENSP00000362778:R84H	ENSP00000362778:R84H	R	+	2	0	PI16	37034978	0.870000	0.30015	0.266000	0.24541	0.991000	0.79684	1.312000	0.33574	-0.012000	0.14223	0.511000	0.50034	CGC		0.667	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		9	14	0	0	0	1	0	9	14				
C1QL3	389941	broad.mit.edu	37	10	16562941	16562941	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr10:16562941T>A	ENST00000298943.3	-	1	1063	c.124A>T	c.(124-126)Agc>Tgc	p.S42C		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	42					regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.S42C(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCAGCGGTGCTGGGCGCCTTG	0.736																																						ENST00000298943.3																			1	Substitution - Missense(1)	p.S42C(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(124-126)Agc>Tgc		complement component 1, q subcomponent-like 3							5.0	8.0	7.0					10																	16562941		1954	4015	5969	SO:0001583	missense	389941					collagen		g.chr10:16562941T>A		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.124A>T	10.37:g.16562941T>A	ENSP00000298943:p.Ser42Cys						p.S42C	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			1	1063	-			42					A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.124A>T	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	T	8.182	0.794049	0.16327	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	D	0.84660	-1.88	3.9	1.47	0.22746	.	0.261494	0.36338	N	0.002644	T	0.75975	0.3923	L	0.40543	1.245	0.39110	D	0.961467	P	0.44195	0.828	B	0.40741	0.339	T	0.71735	-0.4503	10	0.72032	D	0.01	.	5.4959	0.16802	0.153:0.0861:0.0:0.7609	.	42	Q5VWW1	C1QL3_HUMAN	C	42	ENSP00000298943:S42C	ENSP00000298943:S42C	S	-	1	0	C1QL3	16602947	1.000000	0.71417	0.952000	0.39060	0.062000	0.15995	3.003000	0.49505	0.104000	0.17725	-0.379000	0.06801	AGC		0.736	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		2	3	0	0	0	1	0	2	3				
C16orf54	283897	broad.mit.edu	37	16	29755663	29755663	+	Missense_Mutation	SNP	G	G	A	rs190639748	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:29755663G>A	ENST00000329410.3	-	2	705	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	204						integral component of membrane (GO:0016021)		p.R204W(1)		breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AAGGTGACCCGTGGCTGGAGG	0.667													g|||	6	0.00119808	0.0023	0.0014	5008	,	,		15340	0.002		0.0	False		,,,				2504	0.0					ENST00000329410.3																			1	Substitution - Missense(1)	p.R204W(1)	prostate(1)	breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(610-612)Cgg>Tgg		chromosome 16 open reading frame 54																																				SO:0001583	missense	283897					integral to membrane		g.chr16:29755663G>A	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.610C>T	16.37:g.29755663G>A	ENSP00000327506:p.Arg204Trp						p.R204W	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN			2	705	-			204					A6NJR6|Q8NAB0	Missense_Mutation	SNP	ENST00000329410.3	37	c.610C>T	CCDS10652.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.90	3.250337	0.59212	.	.	ENSG00000185905	ENST00000329410	T	0.66815	-0.23	5.4	5.4	0.78164	.	0.234395	0.22352	U	0.061199	T	0.72112	0.3420	L	0.29908	0.895	0.39672	D	0.970768	D	0.89917	1.0	D	0.67231	0.95	T	0.75977	-0.3127	10	0.87932	D	0	-5.7413	14.6761	0.68981	0.0:0.0:1.0:0.0	.	204	Q6UWD8	CP054_HUMAN	W	204	ENSP00000327506:R204W	ENSP00000327506:R204W	R	-	1	2	C16orf54	29663164	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	4.260000	0.58835	2.537000	0.85549	0.313000	0.20887	CGG		0.667	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900		6	31	0	0	0	1	0	6	31				
KRT73	319101	broad.mit.edu	37	12	53005086	53005086	+	Missense_Mutation	SNP	G	G	A	rs150273425	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr12:53005086G>A	ENST00000305748.3	-	6	1046	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	338	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R338W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCCCATGCCGGCCGGCTGCT	0.537													G|||	10	0.00199681	0.0	0.0	5008	,	,		20639	0.0		0.0	False		,,,				2504	0.0102					ENST00000305748.3																			1	Substitution - Missense(1)	p.R338W(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1012-1014)Cgg>Tgg		keratin 73		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	97.0	100.0		1012	2.7	0.2	12	dbSNP_134	100	0,8600		0,0,4300	no	missense	KRT73	NM_175068.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	338/541	53005086	1,13005	2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53005086G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1012C>T	12.37:g.53005086G>A	ENSP00000307014:p.Arg338Trp					RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	p.R338W	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1046	-			338			Coil 2.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1012C>T	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525997	0.44969	2.27E-4	0.0	ENSG00000186049	ENST00000305748;ENST00000552855	T;T	0.77877	-0.97;-1.13	5.61	2.66	0.31614	Filament (1);	0.130542	0.32244	N	0.006378	D	0.87529	0.6200	M	0.93550	3.43	0.09310	N	1	D	0.69078	0.997	D	0.64595	0.927	T	0.78612	-0.2136	10	0.87932	D	0	.	4.9583	0.14054	0.0713:0.109:0.3857:0.4341	.	338	Q86Y46	K2C73_HUMAN	W	338;83	ENSP00000307014:R338W;ENSP00000449081:R83W	ENSP00000307014:R338W	R	-	1	2	KRT73	51291353	0.000000	0.05858	0.165000	0.22776	0.444000	0.32077	-0.141000	0.10327	0.363000	0.24346	0.555000	0.69702	CGG		0.537	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		21	107	0	0	0	1	0	21	107				
TUBB8P7	197331	broad.mit.edu	37	16	90162016	90162016	+	RNA	SNP	A	A	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:90162016A>C	ENST00000564451.1	+	0	1369				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGCTGACCTGAGGAAGCTGGC	0.622																																						ENST00000567960.1																			0																																																			0							g.chr16:90162016A>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162016A>C						TUBB8P7_ENST00000564451.1_RNA								0	752	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.622	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	59	0	0	0	1	0	3	59				
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							TTTTCTCTTCGGTGAGTAATC	0.388													.|||	851	0.169928	0.1914	0.183	5008	,	,		15991	0.0982		0.2634	False		,,,				2504	0.1094					ENST00000453498.1																			0																																																			0							g.chr13:25168501G>A																													13.37:g.25168501G>A														0	1173	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.388	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	56	0	0	0	1	0	4	56				
ASIC4	55515	broad.mit.edu	37	2	220396564	220396564	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:220396564G>A	ENST00000347842.3	+	2	1062	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	ASIC4_ENST00000358078.4_Missense_Mutation_p.G350S|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	350					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.G350S(1)									CATGGGCAGTGGCCTGGAGAT	0.632																																						ENST00000358078.4																			1	Substitution - Missense(1)	p.G350S(1)	prostate(1)								c.(1048-1050)Ggc>Agc		acid-sensing (proton-gated) ion channel family member 4							65.0	70.0	69.0					2																	220396564		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396564G>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1048G>A	2.37:g.220396564G>A	ENSP00000326627:p.Gly350Ser					ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.G350S	p.G350S			Q96FT7	ACCN4_HUMAN			2	1062	+			350					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1048G>A	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153706	0.78114	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.72167	-0.63;-0.63	3.07	3.07	0.35406	.	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.86805	2.84	0.80722	D	1	P;D;D	0.65815	0.81;0.995;0.984	B;D;P	0.68353	0.394;0.957;0.765	D	0.87676	0.2544	10	0.59425	D	0.04	-4.9815	14.9848	0.71339	0.0:0.0:1.0:0.0	.	350;350;350	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	S	350	ENSP00000326627:G350S;ENSP00000350786:G350S	ENSP00000326627:G350S	G	+	1	0	ACCN4	220104808	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.556000	0.98127	2.043000	0.60533	0.561000	0.74099	GGC		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		51	160	0	0	0	1	0	51	160				
ZNF761	388561	broad.mit.edu	37	19	53960338	53960338	+	RNA	SNP	A	A	G	rs2708740	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:53960338A>G	ENST00000454407.1	+	0	3030							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CAGTGTAATGAGTGTGGCAAA	0.423													a|||	1963	0.391973	0.4123	0.5375	5008	,	,		21856	0.2401		0.3996	False		,,,				2504	0.41					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53960338A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53960338A>G										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	3030	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.423	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		3	65	0	0	0	1	0	3	65				
HCFC1	3054	broad.mit.edu	37	X	153224170	153224170	+	Silent	SNP	A	A	C	rs367802085		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chrX:153224170A>C	ENST00000310441.7	-	10	2619	c.1653T>G	c.(1651-1653)gcT>gcG	p.A551A	HCFC1_ENST00000369984.4_Silent_p.A551A|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Silent_p.A482A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	551					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A551A(1)|p.A452A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGGCCGCAGCGGCCAGTG	0.657																																						ENST00000310441.7																			2	Substitution - coding silent(2)	p.A551A(1)|p.A452A(1)	prostate(2)	NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1651-1653)gcT>gcG		host cell factor C1 (VP16-accessory protein)							22.0	28.0	26.0					X																	153224170		2076	4177	6253	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153224170A>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1653T>G	X.37:g.153224170A>C						HCFC1_ENST00000354233.3_Silent_p.A482A|HCFC1_ENST00000369984.4_Silent_p.A551A	p.A551A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			10	2619	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		551					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.1653T>G	CCDS44020.1																																																																																				0.657	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		14	16	0	0	0	1	0	14	16				
SCNN1B	6338	broad.mit.edu	37	16	23360195	23360195	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:23360195T>C	ENST00000343070.2	+	2	451	c.275T>C	c.(274-276)tTc>tCc	p.F92S	SCNN1B_ENST00000568085.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.F137S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	92					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.F92S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACCATGGACTTCCCTGCCGTC	0.587																																						ENST00000343070.2																			1	Substitution - Missense(1)	p.F92S(1)	prostate(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(274-276)tTc>tCc		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						71.0	63.0	66.0					16																	23360195		2197	4300	6497	SO:0001583	missense	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23360195T>C	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.275T>C	16.37:g.23360195T>C	ENSP00000345751:p.Phe92Ser					SCNN1B_ENST00000568085.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.F137S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000569789.1_3'UTR	p.F92S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	2	451	+			92					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.275T>C	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124354	0.77436	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	D;D	0.81579	-1.51;-1.51	4.92	4.92	0.64577	.	0.150792	0.46442	D	0.000291	D	0.87633	0.6226	M	0.88640	2.97	0.49483	D	0.999796	D	0.54601	0.967	P	0.52159	0.691	D	0.90187	0.4247	10	0.87932	D	0	-15.1935	13.7288	0.62774	0.0:0.0:0.0:1.0	.	92	P51168	SCNNB_HUMAN	S	92;137	ENSP00000345751:F92S;ENSP00000302874:F137S	ENSP00000302874:F137S	F	+	2	0	SCNN1B	23267696	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.913000	0.69957	1.834000	0.53371	0.459000	0.35465	TTC		0.587	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			4	45	0	0	0	1	0	4	45				
MLLT3	4300	broad.mit.edu	37	9	20620724	20620724	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:20620724T>C	ENST00000380338.4	-	2	408	c.122A>G	c.(121-123)cAc>cGc	p.H41R	MLLT3_ENST00000429426.2_Missense_Mutation_p.H38R|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	41	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.H41R(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TATGTTACTGTGCTCCGGACC	0.547			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - Missense(1)	p.H41R(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(121-123)cAc>cGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							143.0	134.0	137.0					9																	20620724		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20620724T>C	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.122A>G	9.37:g.20620724T>C	ENSP00000369695:p.His41Arg					MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H38R	p.H41R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	2	408	-			41			YEATS.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.122A>G	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	T	6.633	0.485208	0.12641	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.47	4.33	0.51752	.	0.055265	0.64402	D	0.000001	T	0.29223	0.0727	N	0.03000	-0.44	0.80722	D	1	B;B;B	0.27117	0.069;0.168;0.078	B;B;B	0.32289	0.127;0.143;0.069	T	0.08722	-1.0708	9	0.27785	T	0.31	-6.7094	11.1419	0.48408	0.0:0.0733:0.0:0.9267	.	41;38;41	B2R7B3;B7Z755;P42568	.;.;AF9_HUMAN	R	41;38;80	.	ENSP00000369695:H41R	H	-	2	0	MLLT3	20610724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.233000	0.58651	0.893000	0.36288	0.459000	0.35465	CAC		0.547	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		47	216	0	0	0	1	0	47	216				
DOCK10	55619	broad.mit.edu	37	2	225717687	225717687	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:225717687G>T	ENST00000258390.7	-	17	2108	c.2041C>A	c.(2041-2043)Cac>Aac	p.H681N	DOCK10_ENST00000409592.3_Missense_Mutation_p.H675N	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	681	DHR-1.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H681N(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TACTTGAGGTGTTTGGGGTAA	0.338																																						ENST00000409592.3																			2	Substitution - Missense(2)	p.H681N(2)	prostate(2)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(2023-2025)Cac>Aac		dedicator of cytokinesis 10							132.0	127.0	129.0					2																	225717687		1825	4075	5900	SO:0001583	missense	55619						GTP binding	g.chr2:225717687G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2041C>A	2.37:g.225717687G>T	ENSP00000258390:p.His681Asn					DOCK10_ENST00000258390.7_Missense_Mutation_p.H681N	p.H675N			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	17	2136	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	681			DHR-1.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2023C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716253	0.68844	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.13538	2.58;2.58	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.53617	1.68	0.51767	D	0.999933	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.969	T	0.00852	-1.1540	10	0.27082	T	0.32	.	19.2785	0.94042	0.0:0.0:1.0:0.0	.	681;675	Q96BY6;B3FL70	DOC10_HUMAN;.	N	675;681	ENSP00000386694:H675N;ENSP00000258390:H681N	ENSP00000258390:H681N	H	-	1	0	DOCK10	225425931	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	9.420000	0.97426	2.635000	0.89317	0.453000	0.30009	CAC		0.338	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			29	124	1	0	3.80469e-20	1	4.2904e-20	29	124				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		6	130	0	0	0	1	0	6	130				
CYP2A6	1548	broad.mit.edu	37	19	41351368	41351368	+	Missense_Mutation	SNP	A	A	G	rs146206761	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:41351368A>G	ENST00000301141.5	-	7	1012	c.992T>C	c.(991-993)aTt>aCt	p.I331T	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	331					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.I331T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CACTCTGTCAATCTCCTCATG	0.537																																						ENST00000301141.5																			1	Substitution - Missense(1)	p.I331T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(991-993)aTt>aCt		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	A	THR/ILE	8,4398		0,8,2195	80.0	75.0	76.0		992	2.7	1.0	19	dbSNP_134	76	0,8594		0,0,4297	no	missense	CYP2A6	NM_000762.5	89	0,8,6492	GG,GA,AA		0.0,0.1816,0.0615	possibly-damaging	331/495	41351368	8,12992	2203	4297	6500	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351368A>G	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.992T>C	19.37:g.41351368A>G	ENSP00000301141:p.Ile331Thr					CTC-490E21.12_ENST00000601627.1_Intron	p.I331T	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1012	-			331					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.992T>C	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	13.44	2.238866	0.39598	0.001816	0.0	ENSG00000255974	ENST00000301141	T	0.73789	-0.78	2.65	2.65	0.31530	.	0.000000	0.85682	U	0.000000	T	0.81014	0.4735	M	0.81614	2.55	0.39143	D	0.962079	D;B	0.53745	0.962;0.141	P;B	0.54706	0.759;0.159	D	0.84012	0.0349	10	0.87932	D	0	.	10.195	0.43049	1.0:0.0:0.0:0.0	.	331;331	Q13120;P11509	.;CP2A6_HUMAN	T	331	ENSP00000301141:I331T	ENSP00000301141:I331T	I	-	2	0	CYP2A6	46043208	1.000000	0.71417	0.992000	0.48379	0.813000	0.45954	8.494000	0.90477	1.167000	0.42706	0.312000	0.20444	ATT		0.537	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		5	173	0	0	0	1	0	5	173				
CNOT1	23019	broad.mit.edu	37	16	58621140	58621140	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:58621140A>C	ENST00000317147.5	-	6	730	c.398T>G	c.(397-399)cTg>cGg	p.L133R	CNOT1_ENST00000569240.1_Missense_Mutation_p.L133R|CNOT1_ENST00000441024.2_Missense_Mutation_p.L133R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	133					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.L133R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATTCAACAGGGCAAGGCC	0.338																																						ENST00000317147.5																			2	Substitution - Missense(2)	p.L133R(2)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(397-399)cTg>cGg		CCR4-NOT transcription complex, subunit 1							102.0	105.0	104.0					16																	58621140		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621140A>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.398T>G	16.37:g.58621140A>C	ENSP00000320949:p.Leu133Arg					CNOT1_ENST00000569240.1_Missense_Mutation_p.L133R|CNOT1_ENST00000441024.2_Missense_Mutation_p.L133R	p.L133R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	6	730	-			133					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.398T>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902340	0.92035	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.26810	1.71;1.71	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.969;1.0;1.0	P;D;D	0.91635	0.839;0.997;0.999	T	0.52638	-0.8549	9	.	.	.	-6.6509	15.8204	0.78638	1.0:0.0:0.0:0.0	.	133;133;133	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	133	ENSP00000320949:L133R;ENSP00000413113:L133R	.	L	-	2	0	CNOT1	57178641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.202000	0.72131	2.142000	0.66516	0.459000	0.35465	CTG		0.338	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		29	135	0	0	0	1	0	29	135				
BSX	390259	broad.mit.edu	37	11	122848489	122848489	+	Silent	SNP	G	G	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:122848489G>A	ENST00000343035.2	-	3	618	c.570C>T	c.(568-570)cgC>cgT	p.R190R		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	190					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R190R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCTCTGAACCGCGGGGGCTGC	0.657																																						ENST00000343035.2																			1	Substitution - coding silent(1)	p.R190R(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(568-570)cgC>cgT		brain-specific homeobox							26.0	30.0	29.0					11																	122848489		1848	4080	5928	SO:0001819	synonymous_variant	390259							g.chr11:122848489G>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.570C>T	11.37:g.122848489G>A							p.R190R	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	618	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	190						Silent	SNP	ENST00000343035.2	37	c.570C>T	CCDS41728.1																																																																																				0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		3	21	0	0	0	1	0	3	21				
BRAF	673	broad.mit.edu	37	7	140501299	140501299	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:140501299C>A	ENST00000288602.6	-	6	833	c.773G>T	c.(772-774)gGt>gTt	p.G258V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	258					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.G258V(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)	ACAGCGGAAACCCTGGAAAAG	0.368		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		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)	1	Substitution - Missense(1)	p.G258V(1)	prostate(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.(772-774)gGt>gTt		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						57.0	54.0	55.0					7																	140501299		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.chr7:140501299C>A	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.773G>T	7.37:g.140501299C>A	ENSP00000288602:p.Gly258Val						p.G258V	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			6	833	-	Melanoma(164;0.00956)		258					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.773G>T	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878902	0.91740	.	.	ENSG00000157764	ENST00000288602	D	0.94417	-3.42	5.43	5.43	0.79202	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99581	1.0973	10	0.87932	D	0	.	19.2582	0.93955	0.0:1.0:0.0:0.0	.	258	P15056	BRAF_HUMAN	V	258	ENSP00000288602:G258V	ENSP00000288602:G258V	G	-	2	0	BRAF	140147768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.557000	0.86248	0.561000	0.74099	GGT		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	75	1	0	3.86212e-05	1	4.09385e-05	11	75				
LIG1	3978	broad.mit.edu	37	19	48654539	48654539	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:48654539C>T	ENST00000263274.7	-	7	943	c.524G>A	c.(523-525)gGa>gAa	p.G175E	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.G144E|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	175					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.G175E(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCGTCTTCTCCTTCCTTCTC	0.567								Nucleotide excision repair (NER)																														ENST00000263274.7																			2	Substitution - Missense(2)	p.G175E(2)	prostate(2)	breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(523-525)gGa>gAa	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						148.0	136.0	140.0					19																	48654539		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48654539C>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.524G>A	19.37:g.48654539C>T	ENSP00000263274:p.Gly175Glu					LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Missense_Mutation_p.G144E|LIG1_ENST00000536218.1_Intron	p.G175E	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	7	943	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	175					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.524G>A	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	0.206	-1.040893	0.02013	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000542460	T;T;T	0.55234	0.63;0.53;2.05	4.54	-6.99	0.01605	.	0.866304	0.10081	N	0.718428	T	0.13415	0.0325	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33059	-0.9883	10	0.02654	T	1	0.5443	1.2168	0.01916	0.1848:0.3454:0.1831:0.2867	.	144;175	B4DTU4;P18858	.;DNLI1_HUMAN	E	175;206;144;143	ENSP00000263274:G175E;ENSP00000442841:G144E;ENSP00000445928:G143E	ENSP00000263274:G175E	G	-	2	0	LIG1	53346351	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.207000	0.09384	-0.740000	0.04803	-1.099000	0.02127	GGA		0.567	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		66	248	0	0	0	1	0	66	248				
OR4D5	219875	broad.mit.edu	37	11	123810477	123810477	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:123810477G>A	ENST00000307033.2	+	1	228	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52N(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTGACCTCCGACCCACACCT	0.443																																						ENST00000307033.2																			1	Substitution - Missense(1)	p.D52N(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(154-156)Gac>Aac		olfactory receptor, family 4, subfamily D, member 5							176.0	154.0	161.0					11																	123810477		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810477G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.154G>A	11.37:g.123810477G>A	ENSP00000305970:p.Asp52Asn						p.D52N	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	228	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	52					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.154G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652011	0.47362	.	.	ENSG00000171014	ENST00000307033	T	0.02837	4.14	5.28	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.123947	0.35936	N	0.002894	T	0.04634	0.0126	L	0.60455	1.87	0.33806	D	0.627313	B	0.23058	0.079	B	0.24974	0.057	T	0.04153	-1.0973	10	0.59425	D	0.04	-7.9721	10.0762	0.42362	0.1573:0.0:0.8427:0.0	.	52	Q8NGN0	OR4D5_HUMAN	N	52	ENSP00000305970:D52N	ENSP00000305970:D52N	D	+	1	0	OR4D5	123315687	0.000000	0.05858	0.135000	0.22099	0.959000	0.62525	0.213000	0.17521	1.206000	0.43276	0.655000	0.94253	GAC		0.443	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		62	188	0	0	0	1	0	62	188				
ADRA1D	146	broad.mit.edu	37	20	4202306	4202306	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:4202306C>T	ENST00000379453.4	-	2	1699	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	528				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.R528H(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGCCTCTGCGCGCTGCGCGCC	0.716																																						ENST00000379453.4																			1	Substitution - Missense(1)	p.R528H(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1582-1584)cGc>cAc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						18.0	20.0	19.0					20																	4202306		2179	4255	6434	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202306C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1583G>A	20.37:g.4202306C>T	ENSP00000368766:p.Arg528His						p.R528H	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1699	-			528	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).				Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1583G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133089	0.37630	.	.	ENSG00000171873	ENST00000379453	T	0.59502	0.26	3.06	1.98	0.26296	.	4.556250	0.01093	U	0.005239	T	0.36358	0.0964	N	0.22421	0.69	0.09310	N	1	P	0.49358	0.923	B	0.28638	0.092	T	0.47873	-0.9083	10	0.48119	T	0.1	.	5.1119	0.14813	0.2333:0.539:0.2277:0.0	.	528	P25100	ADA1D_HUMAN	H	528	ENSP00000368766:R528H	ENSP00000368766:R528H	R	-	2	0	ADRA1D	4150306	0.848000	0.29623	0.546000	0.28166	0.716000	0.41182	0.881000	0.28173	1.681000	0.50988	0.305000	0.20034	CGC		0.716	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		18	62	0	0	0	1	0	18	62				
ASH1L	55870	broad.mit.edu	37	1	155451980	155451980	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:155451980A>T	ENST00000368346.3	-	3	1320	c.681T>A	c.(679-681)tgT>tgA	p.C227*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.C227*|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	227					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.C227*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGAAGGAGGACAGGTAGCAA	0.453																																						ENST00000368346.3																			1	Substitution - Nonsense(1)	p.C227*(1)	prostate(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(679-681)tgT>tgA		ash1 (absent, small, or homeotic)-like (Drosophila)							113.0	108.0	110.0					1																	155451980		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155451980A>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.681T>A	1.37:g.155451980A>T	ENSP00000357330:p.Cys227*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.C227*|ASH1L_ENST00000548830.1_3'UTR	p.C227*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	1320	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		227					Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.681T>A		.	.	.	.	.	.	.	.	.	.	A	39	7.311850	0.98203	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	4.74	3.61	0.41365	.	0.165528	0.42682	D	0.000673	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	7.0265	0.24942	0.7457:0.0:0.2543:0.0	.	.	.	.	X	227	.	ENSP00000357330:C227X	C	-	3	2	ASH1L	153718604	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.509000	0.45459	0.844000	0.35094	0.460000	0.39030	TGT		0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		67	181	0	0	0	1	0	67	181				
ZBBX	79740	broad.mit.edu	37	3	167068219	167068219	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:167068219T>C	ENST00000392766.2	-	9	857	c.517A>G	c.(517-519)Act>Gct	p.T173A	ZBBX_ENST00000455345.2_Missense_Mutation_p.T173A|ZBBX_ENST00000392767.2_Missense_Mutation_p.T173A|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.T173A|ZBBX_ENST00000392764.1_Missense_Mutation_p.T144A	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	173						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T173A(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCAAAAGAGTTGTTCTGTGG	0.328																																						ENST00000392766.2																			2	Substitution - Missense(2)	p.T173A(2)	prostate(2)	NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(517-519)Act>Gct		zinc finger, B-box domain containing							173.0	170.0	171.0					3																	167068219		1820	4073	5893	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167068219T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.517A>G	3.37:g.167068219T>C	ENSP00000376519:p.Thr173Ala					ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.T173A|ZBBX_ENST00000455345.2_Missense_Mutation_p.T173A|ZBBX_ENST00000392764.1_Missense_Mutation_p.T144A|ZBBX_ENST00000392767.2_Missense_Mutation_p.T173A	p.T173A	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			9	857	-			173					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.517A>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	15.26	2.782233	0.49891	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.54	5.54	0.83059	Zinc finger, B-box (1);	0.000000	0.32952	U	0.005454	T	0.49338	0.1551	N	0.22421	0.69	0.29918	N	0.822942	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.49826	-0.8898	10	0.36615	T	0.2	-12.9964	13.6397	0.62243	0.0:0.0:0.0:1.0	.	173;173	A8MT70-2;A8MT70	.;ZBBX_HUMAN	A	173;173;173;173;144	ENSP00000376519:T173A;ENSP00000376520:T173A;ENSP00000390232:T173A;ENSP00000305065:T173A;ENSP00000376517:T144A	ENSP00000305065:T173A	T	-	1	0	ZBBX	168550913	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	2.686000	0.46968	2.101000	0.63845	0.377000	0.23210	ACT		0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		75	310	0	0	0	1	0	75	310				
TIMELESS	8914	broad.mit.edu	37	12	56817470	56817470	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr12:56817470C>T	ENST00000553532.1	-	17	2138	c.1988G>A	c.(1987-1989)cGt>cAt	p.R663H	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.R662H					timeless circadian clock									p.R663H(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ctcTGCCCCACGTTCCTCTGG	0.502																																						ENST00000229201.4																			1	Substitution - Missense(1)	p.R663H(1)	prostate(1)	NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1984-1986)cGt>cAt		timeless circadian clock							44.0	45.0	44.0					12																	56817470		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817470C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1988G>A	12.37:g.56817470C>T	ENSP00000450607:p.Arg663His					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R663H	p.R662H	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			17	2139	-			663			Glu-rich.			Missense_Mutation	SNP	ENST00000553532.1	37	c.1985G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166731	0.21621	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.06933	3.24;3.24	5.61	-11.2	0.00127	.	1.837510	0.02432	N	0.083684	T	0.07503	0.0189	L	0.36672	1.1	0.09310	N	1	B	0.26876	0.162	B	0.25140	0.058	T	0.12066	-1.0562	10	0.49607	T	0.09	15.4924	14.0466	0.64708	0.0:0.6418:0.2007:0.1575	.	663	Q9UNS1	TIM_HUMAN	H	662;663	ENSP00000229201:R662H;ENSP00000450607:R663H	ENSP00000229201:R663H	R	-	2	0	TIMELESS	55103737	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.358000	0.07641	-2.261000	0.00691	-0.291000	0.09656	CGT		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		13	40	0	0	0	1	0	13	40				
ACTRT3	84517	broad.mit.edu	37	3	169486066	169486066	+	Silent	SNP	A	A	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:169486066A>G	ENST00000330368.2	-	2	647	c.273T>C	c.(271-273)taT>taC	p.Y91Y	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	91						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.Y91Y(1)									GCTTTAGGTTATAGTCATAGA	0.473																																						ENST00000330368.2																			1	Substitution - coding silent(1)	p.Y91Y(1)	prostate(1)								c.(271-273)taT>taC		actin-related protein T3							68.0	66.0	67.0					3																	169486066		2203	4300	6503	SO:0001819	synonymous_variant	84517					cytoplasm|cytoskeleton		g.chr3:169486066A>G	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.273T>C	3.37:g.169486066A>G							p.Y91Y	NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN			2	647	-			91					Q96IS0|Q96NJ0	Silent	SNP	ENST00000330368.2	37	c.273T>C	CCDS3206.1																																																																																				0.473	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		43	64	0	0	0	1	0	43	64				
NUP133	55746	broad.mit.edu	37	1	229635527	229635527	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:229635527G>C	ENST00000261396.3	-	5	643	c.552C>G	c.(550-552)atC>atG	p.I184M	NUP133_ENST00000366678.3_Missense_Mutation_p.I184M|NUP133_ENST00000537506.1_Missense_Mutation_p.I168M	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	184					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|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)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.I184M(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GCCAATAGCGGATAGATCCTT	0.453																																						ENST00000261396.3																			1	Substitution - Missense(1)	p.I184M(1)	prostate(1)	NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(550-552)atC>atG		nucleoporin 133kDa							89.0	86.0	87.0					1																	229635527		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229635527G>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.552C>G	1.37:g.229635527G>C	ENSP00000261396:p.Ile184Met					NUP133_ENST00000366678.3_Missense_Mutation_p.I184M|NUP133_ENST00000366679.1_Missense_Mutation_p.I184M|NUP133_ENST00000537506.1_Missense_Mutation_p.I168M	p.I184M	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			5	643	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	184					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.552C>G	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.285975	0.59867	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.69	2.43	0.29744	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.382752	0.29028	N	0.013361	T	0.31949	0.0813	L	0.36672	1.1	0.31915	N	0.614224	P	0.49253	0.921	P	0.57846	0.828	T	0.40905	-0.9538	10	0.87932	D	0	-7.3494	1.4736	0.02421	0.2052:0.3352:0.3071:0.1524	.	184	Q8WUM0	NU133_HUMAN	M	184;184;184;168;184	ENSP00000261396:I184M;ENSP00000355640:I184M;ENSP00000443496:I168M;ENSP00000355639:I184M	ENSP00000261396:I184M	I	-	3	3	NUP133	227702150	0.990000	0.36364	0.989000	0.46669	0.989000	0.77384	0.374000	0.20501	0.754000	0.32968	0.563000	0.77884	ATC		0.453	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		15	88	0	0	0	1	0	15	88				
DUSP7	1849	broad.mit.edu	37	3	52088081	52088081	+	Missense_Mutation	SNP	T	T	C	rs550638572		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:52088081T>C	ENST00000495880.1	-	2	1010	c.827A>G	c.(826-828)aAt>aGt	p.N276S	DUSP7_ENST00000296483.6_Missense_Mutation_p.N225S			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	276					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.N225S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGTGTGACATTGAGGATATA	0.582													T|||	1	0.000199681	0.0	0.0	5008	,	,		22265	0.0		0.0	False		,,,				2504	0.001					ENST00000495880.1																			1	Substitution - Missense(1)	p.N225S(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(826-828)aAt>aGt		dual specificity phosphatase 7							341.0	299.0	313.0					3																	52088081		2203	4300	6503	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52088081T>C	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.827A>G	3.37:g.52088081T>C	ENSP00000417183:p.Asn276Ser					DUSP7_ENST00000296483.6_Missense_Mutation_p.N225S	p.N276S			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1010	-			276					Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.827A>G	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532573	0.85812	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.89196	-2.48;-2.48;-2.48	5.42	5.42	0.78866	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	L	0.49455	1.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93407	0.6765	10	0.87932	D	0	.	15.1265	0.72486	0.0:0.0:0.0:1.0	.	225;276	Q16829-2;Q16829	.;DUS7_HUMAN	S	276;225;209	ENSP00000417183:N276S;ENSP00000296483:N225S;ENSP00000418566:N209S	ENSP00000296483:N225S	N	-	2	0	DUSP7	52063121	1.000000	0.71417	0.990000	0.47175	0.671000	0.39405	7.974000	0.88039	2.044000	0.60594	0.448000	0.29417	AAT		0.582	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		47	169	0	0	0	1	0	47	169				
PTH2R	5746	broad.mit.edu	37	2	209358096	209358096	+	Silent	SNP	G	G	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:209358096G>T	ENST00000272847.2	+	13	1578	c.1365G>T	c.(1363-1365)gtG>gtT	p.V455V	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	455					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.V455V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TCACCACCGTGACGCACAGCA	0.612																																						ENST00000272847.2																			1	Substitution - coding silent(1)	p.V455V(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1363-1365)gtG>gtT		parathyroid hormone 2 receptor							33.0	32.0	32.0					2																	209358096		2203	4300	6503	SO:0001819	synonymous_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358096G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1365G>T	2.37:g.209358096G>T						AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	p.V455V	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1578	+			455					Q8N429	Silent	SNP	ENST00000272847.2	37	c.1365G>T	CCDS2383.1																																																																																				0.612	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		3	20	1	0	6.4e-05	1	6.52451e-05	3	20				
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr17:47696688T>G	ENST00000393328.2	-	5	625	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.Y87C(2)|p.Y87S(2)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)tAc>tCc		speckle-type POZ protein							114.0	107.0	109.0					17																	47696688		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696688T>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.260A>C	17.37:g.47696688T>G	ENSP00000377001:p.Tyr87Ser	Prostate(2;0.17)				SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S	p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	730	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.260A>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.659213	0.88154	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.90019	3.08	0.80722	D	1	P	0.46512	0.879	D	0.71870	0.975	D	0.86577	0.1851	10	0.51188	T	0.08	-9.2801	15.4649	0.75390	0.0:0.0:0.0:1.0	.	87	O43791	SPOP_HUMAN	S	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87S;ENSP00000377004:Y87S;ENSP00000240327:Y87S;ENSP00000425905:Y87S;ENSP00000420908:Y87S;ENSP00000426986:Y87S;ENSP00000420960:Y87S;ENSP00000426262:Y87S;ENSP00000424119:Y87S;ENSP00000426537:Y87S	ENSP00000240327:Y87S	Y	-	2	0	SPOP	45051687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.864000	0.87037	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		44	199	0	0	0	1	0	44	199				
RFK	55312	broad.mit.edu	37	9	79002418	79002418	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:79002418T>A	ENST00000376736.1	-	4	698	c.365A>T	c.(364-366)gAt>gTt	p.D122V	RFK_ENST00000479197.1_5'Flank	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	122					apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531)	p.D129V(1)		pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	TTCTTCAATATCACCTTGAAT	0.333																																						ENST00000376736.1																			1	Substitution - Missense(1)	p.D129V(1)	prostate(1)	pancreas(1)|prostate(1)|urinary_tract(1)	3						c.(364-366)gAt>gTt		riboflavin kinase	Riboflavin(DB00140)						100.0	101.0	101.0					9																	79002418		2203	4299	6502	SO:0001583	missense	55312				riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity	g.chr9:79002418T>A	AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002			30324	protein-coding gene	gene with protein product		613010				14580199	Standard	NM_018339		Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.365A>T	9.37:g.79002418T>A	ENSP00000365926:p.Asp122Val						p.D122V	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN			4	698	-			122					Q5JSG9|Q9NUT7	Missense_Mutation	SNP	ENST00000376736.1	37	c.365A>T	CCDS35044.2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244085	0.79912	.	.	ENSG00000135002	ENST00000376736;ENST00000257452	.	.	.	4.59	4.59	0.56863	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (3);	0.000000	0.85682	D	0.000000	D	0.90872	0.7132	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94520	0.7726	9	0.87932	D	0	-29.0273	14.2538	0.66038	0.0:0.0:0.0:1.0	.	122	Q969G6	RIFK_HUMAN	V	122;129	.	ENSP00000257452:D129V	D	-	2	0	RFK	78192238	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.920000	0.75799	1.844000	0.53588	0.377000	0.23210	GAT		0.333	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052720.1	NM_018339		15	267	0	0	0	1	0	15	267				
XRRA1	143570	broad.mit.edu	37	11	74618288	74618288	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:74618288C>G	ENST00000340360.6	-	9	994	c.663G>C	c.(661-663)aaG>aaC	p.K221N	RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000533598.1_5'Flank|XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.K221N	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1									p.K221N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGATGTACCTCTTGCTTGTCA	0.542																																						ENST00000340360.6																			1	Substitution - Missense(1)	p.K221N(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(661-663)aaG>aaC		X-ray radiation resistance associated 1							108.0	109.0	108.0					11																	74618288		2035	4203	6238	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74618288C>G	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.663G>C	11.37:g.74618288C>G	ENSP00000339918:p.Lys221Asn					XRRA1_ENST00000321448.8_5'UTR|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.K221N	p.K221N	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			9	994	-			221						Missense_Mutation	SNP	ENST00000340360.6	37	c.663G>C	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604909	0.46423	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.50813	0.73;0.77;1.0	5.51	3.53	0.40419	.	0.447401	0.22913	N	0.054103	T	0.47728	0.1461	L	0.53249	1.67	0.31051	N	0.715192	P;P	0.51351	0.933;0.944	P;P	0.52957	0.462;0.714	T	0.48175	-0.9058	10	0.21540	T	0.41	-15.9086	5.9971	0.19499	0.1881:0.7175:0.0:0.0944	.	221;221	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	N	221;221;221;221;229	ENSP00000339918:K221N;ENSP00000435838:K221N;ENSP00000437334:K229N	ENSP00000339918:K221N	K	-	3	2	XRRA1	74295936	0.996000	0.38824	1.000000	0.80357	0.962000	0.63368	0.810000	0.27183	1.334000	0.45468	0.591000	0.81541	AAG		0.542	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		20	105	0	0	0	1	0	20	105				
FAM63B	54629	broad.mit.edu	37	15	59064095	59064095	+	Silent	SNP	T	T	G	rs369822716		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr15:59064095T>G	ENST00000559228.1	+	1	583	c.501T>G	c.(499-501)ccT>ccG	p.P167P	RP11-30K9.6_ENST00000500929.2_lincRNA|FAM63B_ENST00000450403.2_Silent_p.P167P			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	167								p.P167P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CGAGCCCTCCTGGGGAATCTC	0.632																																						ENST00000559228.1																			1	Substitution - coding silent(1)	p.P167P(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(499-501)ccT>ccG		family with sequence similarity 63, member B							18.0	19.0	19.0					15																	59064095		1857	4082	5939	SO:0001819	synonymous_variant	54629							g.chr15:59064095T>G	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.501T>G	15.37:g.59064095T>G						FAM63B_ENST00000450403.2_Silent_p.P167P	p.P167P			Q8NBR6	FA63B_HUMAN			1	583	+			167					B2RTT8|Q9ULQ6	Silent	SNP	ENST00000559228.1	37	c.501T>G	CCDS42046.1																																																																																				0.632	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		4	32	0	0	0	1	0	4	32				
MLLT10	8028	broad.mit.edu	37	10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr10:21962615T>A	ENST00000307729.7	+	11	1566	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000377072.3_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		2	Substitution - Missense(2)	p.V463E(2)	prostate(2)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1387-1389)gTa>gAa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							102.0	112.0	108.0					10																	21962615		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962615T>A	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1388T>A	10.37:g.21962615T>A	ENSP00000307411:p.Val463Glu					MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E|MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E	p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			11	1736	+			463			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1388T>A	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.158125|4.158125	0.78114|0.78114	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639|ENST00000420525	T;T;T;T|.	0.17213|.	2.29;2.3;2.29;2.3|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.124593|.	0.53938|.	D|.	0.000047|.	T|.	0.63977|.	0.2557|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.62365|.	0.978;0.988;0.91;0.991|.	P;P;P;P|.	0.57620|.	0.732;0.771;0.502;0.824|.	T|.	0.61850|.	-0.6978|.	10|.	0.56958|.	D|.	0.05|.	.|.	15.3441|15.3441	0.74320|0.74320	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	309;463;463;463|.	F5H541;E9PBP4;Q5VX90;P55197|.	.;.;.;AF10_HUMAN|.	E|K	463;463;463;309;463;106;105|37	ENSP00000366272:V463E;ENSP00000401406:V463E;ENSP00000307411:V463E;ENSP00000366258:V463E|.	ENSP00000307411:V463E|.	V|X	+|+	2|1	0|0	MLLT10|MLLT10	22002621|22002621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.181000|6.181000	0.71988|0.71988	2.046000|2.046000	0.60703|0.60703	0.477000|0.477000	0.44152|0.44152	GTA|TAA		0.398	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			10	390	0	0	0	1	0	10	390				
EFHC1	114327	broad.mit.edu	37	6	52288788	52288803	+	Frame_Shift_Del	DEL	CTATGCAATTGTTCGA	CTATGCAATTGTTCGA	-	rs557467591|rs202095470		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:52288788_52288803delCTATGCAATTGTTCGA	ENST00000371068.5	+	2	211_226	c.108_123delCTATGCAATTGTTCGA	c.(106-123)ggctatgcaattgttcgafs	p.GYAIVR36fs	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Frame_Shift_Del_p.GYAIVR17fs	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	36						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ACAGGAACGGCTATGCAATTGTTCGACGTCCAACAG	0.458																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(106-123)ggfs		EF-hand domain (C-terminal) containing 1																																				SO:0001589	frameshift_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52288788_52288803delCTATGCAATTGTTCGA	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.108_123delCTATGCAATTGTTCGA	6.37:g.52288788_52288803delCTATGCAATTGTTCGA	ENSP00000360107:p.Gly36fs					EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Frame_Shift_Del_p.GYAIVR17fs|EFHC1_ENST00000491749.1_3'UTR	p.GYAIVR36fs	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			2	211_226	+	Lung NSC(77;0.109)		36					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Frame_Shift_Del	DEL	ENST00000371068.5	37	c.108_123delCTATGCAATTGTTCGA	CCDS4942.1																																																																																				0.458	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		27	164						27	164	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	52						7	52	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20591999	20592002	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:20591999_20592002delTTTA	ENST00000202677.7	-	14	1764_1767	c.1757_1760delTAAA	c.(1756-1761)ataaagfs	p.IK586fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	586					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAACAAGTCCTTTATTTGTTTATC	0.382																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(1756-1761)agfs		Ral GTPase activating protein, alpha subunit 2 (catalytic)																																				SO:0001589	frameshift_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20591999_20592002delTTTA	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1757_1760delTAAA	20.37:g.20591999_20592002delTTTA	ENSP00000202677:p.Ile586fs						p.IK586fs	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			14	1899_1902	-			586					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Frame_Shift_Del	DEL	ENST00000202677.7	37	c.1757_1760delTAAA	CCDS46584.1																																																																																				0.382	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		8	773						8	773	---	---	---	---
