#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
PRR27	401137	broad.mit.edu	37	4	71024450	71024450	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:71024450G>A	ENST00000344526.5	+	3	670	c.481G>A	c.(481-483)Gag>Aag	p.E161K	C4orf40_ENST00000502294.1_Missense_Mutation_p.E161K|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		161	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCTGCAGAGGCACCTGT	0.622																																						uc003hfa.4																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(481-483)Gag>Aag		Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.							28.0	29.0	29.0					4																	71024450		2203	4299	6502	SO:0001583	missense	401137					extracellular region		g.chr4:71024450G>A																												ENST00000344526.5:c.481G>A	4.37:g.71024450G>A	ENSP00000343172:p.Glu161Lys					C4orf40_uc003hfb.4_Missense_Mutation_p.E161K	p.E161K	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN			3	554	+			161			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.481G>A	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	9.368	1.069681	0.20147	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.30448	1.53;1.53	3.58	-1.41	0.08941	.	.	.	.	.	T	0.13329	0.0323	N	0.14661	0.345	0.09310	N	1	B	0.25904	0.137	B	0.25506	0.061	T	0.34650	-0.9820	9	0.06494	T	0.89	.	7.7978	0.29158	0.1092:0.4249:0.4659:0.0	.	161	Q6MZM9	CD040_HUMAN	K	161	ENSP00000426249:E161K;ENSP00000343172:E161K	ENSP00000343172:E161K	E	+	1	0	C4orf40	71059039	0.140000	0.22579	0.001000	0.08648	0.010000	0.07245	1.592000	0.36676	-0.189000	0.10482	0.596000	0.82720	GAG		0.622	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			5	66	0	0	0	1	0	5	66				
DDX5	1655	broad.mit.edu	37	17	62496218	62496218	+	Silent	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:62496218G>A	ENST00000225792.5	-	13	2069	c.1668C>T	c.(1666-1668)acC>acT	p.T556T	DDX5_ENST00000450599.2_Silent_p.T477T|DDX5_ENST00000580026.1_5'Flank|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000578804.1_Silent_p.T556T|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	556	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCTAAAACTGGTCTGTATAC	0.403			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc010deh.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1666-1668)acC>acT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.							133.0	123.0	126.0					17																	62496218		2203	4300	6503	SO:0001819	synonymous_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity	g.chr17:62496218G>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1668C>T	17.37:g.62496218G>A						DDX5_uc002jek.2_Silent_p.T556T|DDX5_uc002jej.2_Silent_p.T451T|DDX5_uc010wqa.1_Silent_p.T477T	p.T556T	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		12	1711	-	Breast(5;2.15e-14)		556					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Silent	SNP	ENST00000225792.5	37	c.1668C>T	CCDS11659.1																																																																																				0.403	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		4	94	0	0	0	1	0	4	94				
TAF6L	10629	broad.mit.edu	37	11	62546414	62546414	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:62546414G>C	ENST00000294168.3	+	6	711	c.510G>C	c.(508-510)ggG>ggC	p.G170G	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	170					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGTGCTAGGGGATGATCCGC	0.483																																						uc001nvc.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(508-510)ggG>ggC		Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.							159.0	132.0	141.0					11																	62546414		2201	4299	6500	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62546414G>C	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.510G>C	11.37:g.62546414G>C						TAF6L_uc009yof.3_Silent_p.G170G	p.G170G	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN			5	711	+			170					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.510G>C	CCDS8035.1																																																																																				0.483	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		3	124	0	0	0	1	0	3	124				
SP140L	93349	broad.mit.edu	37	2	231264857	231264857	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:231264857G>A	ENST00000415673.2	+	15	1299	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	SP140L_ENST00000444636.1_Missense_Mutation_p.E405K|SP140L_ENST00000396563.4_Missense_Mutation_p.E370K|SP140L_ENST00000243810.6_Missense_Mutation_p.E405K	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	405						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAACTTGGATGAGTGTGAGGT	0.512																																						uc010fxm.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1213-1215)Gag>Aag		Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.							182.0	184.0	183.0					2																	231264857		2047	4211	6258	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264857G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1213G>A	2.37:g.231264857G>A	ENSP00000397911:p.Glu405Lys					SP140L_uc010fxo.1_Missense_Mutation_p.E177K	p.E405K	NM_138402	NP_612411	Q9H930	LY10L_HUMAN			14	1304	+			405					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1213G>A	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460334	0.26248	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	3.5	0.544	0.17185	.	.	.	.	.	T	0.81607	0.4858	L	0.54908	1.71	0.09310	N	1	B;B	0.27316	0.175;0.097	B;B	0.32289	0.084;0.143	T	0.65096	-0.6251	9	0.20046	T	0.44	.	6.0941	0.20010	0.3602:0.0:0.6398:0.0	.	370;405	Q9H930-2;Q9H930-4	.;.	K	405;405;405;370	ENSP00000395195:E405K;ENSP00000397911:E405K;ENSP00000243810:E405K;ENSP00000379811:E370K	ENSP00000243810:E405K	E	+	1	0	SP140L	230973101	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.426000	0.07008	-0.014000	0.14175	0.491000	0.48974	GAG		0.512	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		21	80	0	0	0	1	0	21	80				
VCL	7414	broad.mit.edu	37	10	75868775	75868775	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr10:75868775A>G	ENST00000211998.4	+	18	2700	c.2606A>G	c.(2605-2607)gAg>gGg	p.E869G	VCL_ENST00000417648.2_Splice_Site|VCL_ENST00000372755.3_Missense_Mutation_p.E869G	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	869	Linker (Pro-rich).|Pro-rich.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCTGAAGGTGAGGTCCCTCCA	0.512																																						uc001jwd.3																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(2605-2607)gAg>gGg		Homo sapiens vinculin (VCL), transcript variant 1, mRNA.							85.0	83.0	84.0					10																	75868775		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75868775A>G	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2606A>G	10.37:g.75868775A>G	ENSP00000211998:p.Glu869Gly					VCL_uc009xrr.3_Missense_Mutation_p.E618G|VCL_uc010qky.1_Missense_Mutation_p.E776G|VCL_uc001jwe.3_Missense_Mutation_p.E869G|VCL_uc010qkz.2_Splice_Site_p.V131_splice	p.E869G	NM_014000	NP_054706	P18206	VINC_HUMAN			17	2700	+	Prostate(51;0.0112)		869			Linker (Pro-rich).|Pro-rich.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.2606A>G	CCDS7341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.420720|4.420720	0.83559|0.83559	.|.	.|.	ENSG00000035403|ENSG00000035403	ENST00000417648|ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	.|T;T;T	.|0.37584	.|1.19;1.19;1.19	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.112168	.|0.64402	.|D	.|0.000014	.|T	.|0.47303	.|0.1438	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.62365	.|0.989;0.99;0.991	.|D;P;D	.|0.76575	.|0.979;0.852;0.988	.|T	.|0.29397	.|-1.0013	.|10	.|0.23302	.|T	.|0.38	.|.	16.1339|16.1339	0.81465|0.81465	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|796;869;869	.|F5H7T3;P18206-2;P18206	.|.;.;VINC_HUMAN	.|G	-1|869;869;776;796;541	.|ENSP00000361841:E869G;ENSP00000211998:E869G;ENSP00000415489:E541G	.|ENSP00000211998:E869G	.|E	+|+	.|2	.|0	VCL|VCL	75538781|75538781	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	8.658000|8.658000	0.91110|0.91110	2.271000|2.271000	0.75665|0.75665	0.533000|0.533000	0.62120|0.62120	.|GAG		0.512	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		3	94	0	0	0	1	0	3	94				
ALPK2	115701	broad.mit.edu	37	18	56149135	56149135	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr18:56149135T>C	ENST00000361673.3	-	13	6646	c.6433A>G	c.(6433-6435)Att>Gtt	p.I2145V		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2145						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTTCCCAATGCTCGGCTGC	0.433																																						uc002lhj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(6433-6435)Att>Gtt		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							173.0	158.0	163.0					18																	56149135		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56149135T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6433A>G	18.37:g.56149135T>C	ENSP00000354991:p.Ile2145Val						p.I2145V	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			12	6647	-			2145					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.6433A>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	1.274	-0.612132	0.03690	.	.	ENSG00000198796	ENST00000361673	T	0.42131	0.98	5.92	-8.0	0.01126	.	3.036110	0.00853	N	0.001859	T	0.16385	0.0394	N	0.04880	-0.145	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.13124	-1.0521	10	0.12766	T	0.61	0.192	4.4479	0.11606	0.0751:0.3369:0.314:0.274	.	2145	Q86TB3	ALPK2_HUMAN	V	2145	ENSP00000354991:I2145V	ENSP00000354991:I2145V	I	-	1	0	ALPK2	54300115	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.389000	0.01058	-1.384000	0.02103	-0.466000	0.05196	ATT		0.433	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		5	95	0	0	0	1	0	5	95				
ZNF234	10780	broad.mit.edu	37	19	44662001	44662001	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:44662001T>C	ENST00000426739.2	+	6	2090	c.1832T>C	c.(1831-1833)cTc>cCc	p.L611P	ZNF234_ENST00000592437.1_Missense_Mutation_p.L611P	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GCCTCAAGTCTCCAACTTCAT	0.463																																						uc002oym.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1831-1833)cTc>cCc		Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.							137.0	146.0	143.0					19																	44662001		2200	4296	6496	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44662001T>C	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1832T>C	19.37:g.44662001T>C	ENSP00000400878:p.Leu611Pro					ZNF234_uc002oyl.4_Missense_Mutation_p.L611P	p.L611P	NM_006630	NP_006621	Q14588	ZN234_HUMAN			5	2139	+		Prostate(69;0.0435)	611					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1832T>C	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914720	0.52546	.	.	ENSG00000167380	ENST00000426739	T	0.53857	0.6	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80534	0.4641	H	0.95950	3.745	0.23906	N	0.9965	D	0.89917	1.0	D	0.97110	1.0	T	0.74019	-0.3799	9	0.87932	D	0	.	12.8951	0.58095	0.0:0.0:0.0:1.0	.	611	Q14588	ZN234_HUMAN	P	611	ENSP00000400878:L611P	ENSP00000400878:L611P	L	+	2	0	ZNF226	49353841	0.774000	0.28592	0.028000	0.17463	0.946000	0.59487	4.484000	0.60271	1.934000	0.56057	0.477000	0.44152	CTC		0.463	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			3	124	0	0	0	1	0	3	124				
HEATR5A	25938	broad.mit.edu	37	14	31765218	31765218	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr14:31765218G>A	ENST00000389961.3	-	33	5497	c.5498C>T	c.(5497-5499)aCa>aTa	p.T1833I	HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1546I|HEATR5A_ENST00000543095.2_Missense_Mutation_p.T1839I|HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1758I|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1833										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATAAACACTGTGATAGCAGT	0.348																																						uc001wrf.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5515-5517)aCa>aTa		Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.							135.0	131.0	132.0					14																	31765218		1899	4123	6022	SO:0001583	missense	25938						binding	g.chr14:31765218G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5498C>T	14.37:g.31765218G>A	ENSP00000374611:p.Thr1833Ile					HEATR5A_uc010ami.3_Missense_Mutation_p.T1369I	p.T1839I	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	33	5701	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1833					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.5516C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.951783|3.951783	0.73787|0.73787	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.66099	.|-0.19;-0.14;-0.19;-0.19	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.76285	.|0.3966	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.62885	.|0.908	.|T	.|0.78578	.|-0.2150	.|10	.|0.87932	.|D	.|0	.|.	13.2751|13.2751	0.60182|0.60182	0.0722:0.0:0.9278:0.0|0.0722:0.0:0.9278:0.0	.|.	.|1758	.|Q86XA9-2	.|.	X|I	1392|1833;1758;1546;1839	.|ENSP00000374611:T1833I;ENSP00000405407:T1758I;ENSP00000408681:T1546I;ENSP00000437968:T1839I	.|ENSP00000374611:T1833I	Q|T	-|-	1|2	0|0	HEATR5A|HEATR5A	30834969|30834969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.678000|0.678000	0.39670|0.39670	7.198000|7.198000	0.77823|0.77823	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	CAG|ACA		0.348	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		16	88	0	0	0	1	0	16	88				
MLIP	90523	broad.mit.edu	37	6	53989598	53989598	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr6:53989598G>T	ENST00000274897.5	+	3	660	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	MLIP_ENST00000370877.2_Missense_Mutation_p.D131Y|MLIP_ENST00000370876.2_Missense_Mutation_p.D121Y|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Missense_Mutation_p.D183Y|MLIP_ENST00000502396.1_Missense_Mutation_p.D194Y|MLIP_ENST00000509997.1_Missense_Mutation_p.D131Y|MLIP_ENST00000358276.5_Missense_Mutation_p.D177Y	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	183						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.D183N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACAGGGGACTGATCTCAAGAC	0.542																																						uc011dxa.2																			1	Substitution - Missense(1)	p.D183N(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(580-582)Gat>Tat		Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.							69.0	61.0	64.0					6																	53989598		2203	4300	6503	SO:0001583	missense	90523					PML body|nuclear envelope	protein binding	g.chr6:53989598G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.547G>T	6.37:g.53989598G>T	ENSP00000274897:p.Asp183Tyr					MLIP_uc003pcf.2_Missense_Mutation_p.D183Y|MLIP_uc003pcg.4_Missense_Mutation_p.D183Y|MLIP_uc003pch.4_Missense_Mutation_p.D121Y|MLIP_uc011dwz.1_Missense_Mutation_p.D142Y	p.D194Y	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			2	613	+			183					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.580G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249107	0.39797	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.68	2.73	0.32206	.	0.357777	0.28940	N	0.013658	T	0.44767	0.1309	M	0.68952	2.095	0.09310	N	1	D;D;D;D;D	0.76494	0.995;0.995;0.999;0.999;0.993	P;D;D;D;P	0.73380	0.789;0.94;0.964;0.98;0.891	T	0.34850	-0.9812	9	.	.	.	-0.1376	5.1448	0.14979	0.1991:0.1659:0.635:0.0	.	194;194;121;183;183	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	Y	183;183;131;131;121;65;65;142;194;177;65;184	ENSP00000274897:D183Y;ENSP00000425142:D183Y;ENSP00000359914:D131Y;ENSP00000427584:D131Y;ENSP00000359913:D121Y;ENSP00000411917:D65Y;ENSP00000427057:D65Y;ENSP00000426830:D142Y;ENSP00000426290:D194Y;ENSP00000351019:D177Y;ENSP00000421444:D184Y	.	D	+	1	0	MLIP	54097557	0.124000	0.22315	0.007000	0.13788	0.556000	0.35491	1.664000	0.37439	0.242000	0.21303	0.650000	0.86243	GAT		0.542	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		5	66	0	0	0	1	0	5	66				
ENPP2	5168	broad.mit.edu	37	8	120575112	120575112	+	Missense_Mutation	SNP	G	G	T	rs61740048	byFrequency	TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr8:120575112G>T	ENST00000075322.6	-	24	2464	c.2406C>A	c.(2404-2406)aaC>aaA	p.N802K	ENPP2_ENST00000259486.6_Missense_Mutation_p.N854K|ENPP2_ENST00000522826.1_Missense_Mutation_p.N827K|ENPP2_ENST00000522167.1_Missense_Mutation_p.N437K|ENPP2_ENST00000427067.2_Missense_Mutation_p.N823K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	802					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N854N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGCTCTCCTCGTTGTCAGGCC	0.478																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			1	Substitution - coding silent(1)	p.N854N(2)	kidney(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2560-2562)aaC>aaA		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							109.0	97.0	101.0					8																	120575112		2203	4300	6503	SO:0001583	missense	5168				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120575112G>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2406C>A	8.37:g.120575112G>T	ENSP00000075322:p.Asn802Lys					ENPP2_uc011lic.2_Missense_Mutation_p.N340K|ENPP2_uc003yor.2_Missense_Mutation_p.N437K|ENPP2_uc010mdd.2_Missense_Mutation_p.N827K|ENPP2_uc003yot.2_Missense_Mutation_p.N802K	p.N854K	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	2648	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		802					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2562C>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470209	0.63625	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.8	-6.01	0.02199	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.84219	2.685	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.80344	-0.1422	10	0.87932	D	0	.	17.8494	0.88740	0.3637:0.0:0.6363:0.0	.	340;827;802;854;437	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	K	854;823;437;827;802	ENSP00000259486:N854K;ENSP00000403315:N823K;ENSP00000429476:N437K;ENSP00000428291:N827K;ENSP00000075322:N802K	ENSP00000075322:N802K	N	-	3	2	ENPP2	120644293	0.016000	0.18221	0.244000	0.24202	0.902000	0.53008	-0.636000	0.05465	-1.517000	0.01780	-0.312000	0.09012	AAC		0.478	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			8	74	0	0	0	1	0	8	74				
SPANXN5	494197	broad.mit.edu	37	X	52825587	52825587	+	Silent	SNP	A	A	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:52825587A>G	ENST00000375511.3	-	2	912	c.160T>C	c.(160-162)Ttg>Ctg	p.L54L		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	54										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CTGTAGCACAACACTAATACT	0.418																																						uc004drc.1																			0				large_intestine(1)|lung(5)|skin(2)	8						c.(160-162)Ttg>Ctg		Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.							244.0	200.0	215.0					X																	52825587		2203	4300	6503	SO:0001819	synonymous_variant	494197							g.chrX:52825587A>G		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.160T>C	X.37:g.52825587A>G							p.L54L	NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN			1	160	-	Ovarian(276;0.236)		54						Silent	SNP	ENST00000375511.3	37	c.160T>C	CCDS35295.1																																																																																				0.418	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		4	150	0	0	0	1	0	4	150				
HMGB3	3149	broad.mit.edu	37	X	150155679	150155679	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:150155679G>C	ENST00000325307.7	+	4	465	c.369G>C	c.(367-369)gtG>gtC	p.V123V	HMGB3_ENST00000448905.2_Silent_p.V123V	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	123					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGAGACGTGGCAAAAAAGC	0.428																																						uc004fep.3																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(367-369)gtG>gtC		Homo sapiens high mobility group box 3 (HMGB3), mRNA.							42.0	42.0	42.0					X																	150155679		2202	4297	6499	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150155679G>C	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.369G>C	X.37:g.150155679G>C						HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.V123V	p.V123V	NM_005342	NP_005333	O15347	HMGB3_HUMAN			3	461	+	Acute lymphoblastic leukemia(192;6.56e-05)		123					O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.369G>C	CCDS35428.1																																																																																				0.428	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	54	0	0	0	1	0	4	54				
ADAMTS8	11095	broad.mit.edu	37	11	130286920	130286920	+	Silent	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:130286920G>A	ENST00000257359.6	-	3	1717	c.1011C>T	c.(1009-1011)atC>atT	p.I337I		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	337	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AAATGGTCCCGATGTCTGCCA	0.597																																						uc001qgg.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1009-1011)atC>atT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.							93.0	104.0	100.0					11																	130286920		2096	4232	6328	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130286920G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1011C>T	11.37:g.130286920G>A							p.I337I	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1369	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	337			Peptidase M12B.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.1011C>T	CCDS41732.1																																																																																				0.597	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		4	120	0	0	0	1	0	4	120				
KDM3A	55818	broad.mit.edu	37	2	86705781	86705781	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:86705781A>G	ENST00000409556.1	+	16	2604	c.2239A>G	c.(2239-2241)Ata>Gta	p.I747V	KDM3A_ENST00000542128.1_Missense_Mutation_p.I695V|KDM3A_ENST00000312912.5_Missense_Mutation_p.I747V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I747V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	747					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAATGGGGAATAAAGGCAAA	0.388																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2239-2241)Ata>Gta		Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.							114.0	103.0	107.0					2																	86705781		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705781A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2239A>G	2.37:g.86705781A>G	ENSP00000386660:p.Ile747Val					KDM3A_uc010ytj.2_Missense_Mutation_p.I747V|KDM3A_uc010ytk.2_Missense_Mutation_p.I695V	p.I747V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			14	2566	+			747					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2239A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895093	0.72639	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.65549	-0.15;-0.15;-0.15;-0.16	5.73	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.58669	1.825	0.40701	D	0.982488	D;D	0.67145	0.964;0.996	D;D	0.81914	0.94;0.995	T	0.75488	-0.3300	10	0.62326	D	0.03	.	11.4362	0.50070	0.8649:0.0:0.0:0.1351	.	695;747	F5H070;Q9Y4C1	.;KDM3A_HUMAN	V	747;747;747;747;695	ENSP00000386660:I747V;ENSP00000323659:I747V;ENSP00000386516:I747V;ENSP00000438324:I695V	ENSP00000323659:I747V	I	+	1	0	KDM3A	86559292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.983000	0.93477	0.974000	0.38366	0.533000	0.62120	ATA		0.388	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		11	80	0	0	0	1	0	11	80				
TTI1	9675	broad.mit.edu	37	20	36625191	36625191	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr20:36625191G>C	ENST00000373448.2	-	7	3196	c.2958C>G	c.(2956-2958)gtC>gtG	p.V986V	TTI1_ENST00000373447.3_Silent_p.V986V|TTI1_ENST00000449821.1_Silent_p.V986V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	986					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGCCCTGTAAGACAGCCAGCT	0.602																																						uc002xhl.3																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2956-2958)gtC>gtG		Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.							102.0	105.0	104.0					20																	36625191		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36625191G>C	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2958C>G	20.37:g.36625191G>C						TTI1_uc002xhm.3_Silent_p.V986V	p.V986V	NM_014657	NP_055472	O43156	TTI1_HUMAN			6	3167	-			986					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.2958C>G	CCDS13300.1																																																																																				0.602	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		38	131	0	0	0	1	0	38	131				
NALCN	259232	broad.mit.edu	37	13	101795522	101795522	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr13:101795522C>G	ENST00000251127.6	-	17	2108	c.2027G>C	c.(2026-2028)tGc>tCc	p.C676S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	676					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCAGGAGGCAACATGTGTC	0.468																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2026-2028)tGc>tCc		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							198.0	172.0	181.0					13																	101795522		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101795522C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2027G>C	13.37:g.101795522C>G	ENSP00000251127:p.Cys676Ser					NALCN_uc001voy.3_Missense_Mutation_p.C391S	p.C676S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			16	2216	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		676					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2027G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	6.692	0.496247	0.12762	.	.	ENSG00000102452	ENST00000251127	D	0.97186	-4.28	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89371	0.6696	N	0.01576	-0.805	0.80722	D	1	B	0.14012	0.009	B	0.06405	0.002	D	0.86028	0.1511	10	0.06236	T	0.91	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	676	Q8IZF0	NALCN_HUMAN	S	676	ENSP00000251127:C676S	ENSP00000251127:C676S	C	-	2	0	NALCN	100593523	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	5.668000	0.68074	2.686000	0.91538	0.650000	0.86243	TGC		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		8	96	0	0	0	1	0	8	96				
DOK1	1796	broad.mit.edu	37	2	74784179	74784179	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:74784179G>A	ENST00000233668.5	+	5	2053	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.D323N|DOK1_ENST00000340004.6_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	462					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGGAGCTGGGACTGTGGGCT	0.592																																					Esophageal Squamous(36;520 860 12502 33616 51270)	uc002sms.3																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1384-1386)Gac>Aac		Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.							47.0	51.0	50.0					2																	74784179		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74784179G>A	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1384G>A	2.37:g.74784179G>A	ENSP00000233668:p.Asp462Asn					DOK1_uc002smr.3_Missense_Mutation_p.D323N|DOK1_uc010ffo.3_Missense_Mutation_p.D323N|DOK1_uc002smt.3_Missense_Mutation_p.D248N|DOK1_uc002smu.3_Missense_Mutation_p.D248N|DOK1_uc010yrz.2_Missense_Mutation_p.D451N|DOK1_uc002smw.1_Missense_Mutation_p.D248N	p.D462N	NM_001381	NP_001184189	Q99704	DOK1_HUMAN			4	1754	+			462					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.1384G>A	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334634	0.24253	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.40225	1.04;1.14	5.25	3.43	0.39272	.	0.514806	0.21006	N	0.081772	T	0.28234	0.0697	L	0.27053	0.805	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08659	-1.0711	10	0.87932	D	0	-11.2897	7.3255	0.26553	0.0894:0.1679:0.7426:0.0	.	451;462	B4DJN1;Q99704	.;DOK1_HUMAN	N	323;462	ENSP00000387016:D323N;ENSP00000233668:D462N	ENSP00000233668:D462N	D	+	1	0	DOK1	74637687	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	1.660000	0.37397	0.788000	0.33755	0.561000	0.74099	GAC		0.592	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		6	64	0	0	0	1	0	6	64				
DNAH9	1770	broad.mit.edu	37	17	11726231	11726231	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:11726231G>T	ENST00000262442.4	+	48	9194	c.9126G>T	c.(9124-9126)aaG>aaT	p.K3042N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K3042N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3042					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAACTCCCAAGTCCTTTCTGG	0.478																																						uc002gne.3																			0		p.P3041H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9124-9126)aaG>aaT		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							123.0	110.0	115.0					17																	11726231		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11726231G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9126G>T	17.37:g.11726231G>T	ENSP00000262442:p.Lys3042Asn					DNAH9_uc010coo.3_Missense_Mutation_p.K2336N	p.K3042N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	47	9194	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3042					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9126G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284494	0.59867	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56103	0.48;0.48	4.05	-5.32	0.02722	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	H	0.99325	4.515	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86884	0.2044	10	0.87932	D	0	.	19.3718	0.94490	0.2157:0.0:0.7843:0.0	.	3042	Q9NYC9	DYH9_HUMAN	N	3042;3042;1624	ENSP00000262442:K3042N;ENSP00000414874:K3042N	ENSP00000262442:K3042N	K	+	3	2	DNAH9	11666956	0.992000	0.36948	0.929000	0.37066	0.985000	0.73830	0.140000	0.16056	-1.245000	0.02513	-0.484000	0.04775	AAG		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	91	0	0	0	1	0	5	91				
RGS12	6002	broad.mit.edu	37	4	3430427	3430427	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:3430427A>T	ENST00000344733.5	+	16	4458	c.3554A>T	c.(3553-3555)gAc>gTc	p.D1185V	RGS12_ENST00000336727.3_Missense_Mutation_p.D1185V|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000382788.3_Missense_Mutation_p.D1185V|RGS12_ENST00000338806.4_Missense_Mutation_p.D537V|RGS12_ENST00000538395.1_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1185					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTAATTTGGACGAAGCAGAG	0.358																																						uc003ggw.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3553-3555)gAc>gTc		Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.							44.0	49.0	47.0					4																	3430427		2202	4300	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430427A>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3554A>T	4.37:g.3430427A>T	ENSP00000339381:p.Asp1185Val					RGS12_uc003ggv.3_Missense_Mutation_p.D1185V|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.3_Missense_Mutation_p.D537V|RGS12_uc011bvs.2_Intron|RGS12_uc003gha.3_Missense_Mutation_p.D527V|RGS12_uc010icv.3_Missense_Mutation_p.D384V	p.D1185V	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	4458	+			1185					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3554A>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048517	0.75846	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.38240	1.45;1.46;1.46;1.15	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.963;1.0;1.0	T	0.63097	-0.6713	10	0.66056	D	0.02	-46.5591	13.9468	0.64089	1.0:0.0:0.0:0.0	.	527;537;1185;1185	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	V	1185;1185;1185;537	ENSP00000339381:D1185V;ENSP00000338509:D1185V;ENSP00000372238:D1185V;ENSP00000342133:D537V	ENSP00000338509:D1185V	D	+	2	0	RGS12	3400225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.801000	0.75170	1.945000	0.56424	0.533000	0.62120	GAC		0.358	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		3	65	0	0	0	1	0	3	65				
OVCH1	341350	broad.mit.edu	37	12	29607866	29607866	+	Splice_Site	SNP	C	C	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:29607866C>A	ENST00000318184.5	-	21	2437	c.2438G>T	c.(2437-2439)gGt>gTt	p.G813V	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	813						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGAAGCAGGACCTGTATTTGG	0.378																																						uc001rix.1																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.e21-1		Homo sapiens ovochymase 1 (OVCH1), mRNA.							102.0	95.0	97.0					12																	29607866		1854	4095	5949	SO:0001630	splice_region_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29607866C>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2438-1G>T	12.37:g.29607866C>A							p.G813_splice	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			21	2438	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		813						Splice_Site	SNP	ENST00000318184.5	37	c.2438_splice		.	.	.	.	.	.	.	.	.	.	C	16.77	3.214515	0.58452	.	.	ENSG00000187950	ENST00000318184	D	0.87256	-2.23	3.28	2.37	0.29283	.	.	.	.	.	D	0.86297	0.5899	N	0.19112	0.55	0.26551	N	0.973913	D	0.89917	1.0	D	0.72075	0.976	T	0.75772	-0.3200	9	0.54805	T	0.06	.	7.8839	0.29637	0.0:0.8688:0.0:0.1312	.	813	Q7RTY7	OVCH1_HUMAN	V	813	ENSP00000326708:G813V	ENSP00000326708:G813V	G	-	2	0	OVCH1	29499133	0.007000	0.16637	0.043000	0.18650	0.546000	0.35178	0.434000	0.21494	0.927000	0.37143	0.655000	0.94253	GGT		0.378	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	Missense_Mutation	3	24	0	0	0	1	0	3	24				
IGHV3-16	28447	broad.mit.edu	37	14	106622271	106622271	+	RNA	SNP	C	C	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr14:106622271C>G	ENST00000390604.2	-	0	120									immunoglobulin heavy variable 3-16 (non-functional)																		TGTCCACTCACTCAATATCCT	0.453																																						uc021ser.1																			0											c.e1605-1		Parts of antibodies, mostly variable regions.							109.0	97.0	101.0					14																	106622271		1885	4113	5998			0							g.chr14:106622271C>G	M99655		14q32.33	2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	5583	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-16"""				Standard	NG_001019		Approved				OTTHUMG00000152273		14.37:g.106622271C>G														1605		-									Splice_Site	SNP	ENST00000390604.2	37	c.31098_splice																																																																																					0.453	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325661.1	NG_001019		6	128	0	0	0	1	0	6	128				
GPR45	11250	broad.mit.edu	37	2	105859029	105859029	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:105859029G>C	ENST00000258456.1	+	1	830	c.714G>C	c.(712-714)ctG>ctC	p.L238L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCCTGGACCTGCGGCAGCTCA	0.647																																						uc002tco.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(712-714)ctG>ctC		Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.							76.0	81.0	79.0					2																	105859029		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859029G>C	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.714G>C	2.37:g.105859029G>C							p.L238L	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			0	830	+			238					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.714G>C	CCDS2066.1																																																																																				0.647	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		3	80	0	0	0	1	0	3	80				
EPS15L1	58513	broad.mit.edu	37	19	16496012	16496012	+	Silent	SNP	T	T	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:16496012T>A	ENST00000248070.6	-	21	2314	c.2175A>T	c.(2173-2175)ggA>ggT	p.G725G	EPS15L1_ENST00000455140.2_Silent_p.G725G|EPS15L1_ENST00000594975.1_Silent_p.G727G|EPS15L1_ENST00000535753.2_Silent_p.G725G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	725	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GATCTAAGGTTCCAAAGGGAT	0.542																																						uc002ndx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(2173-2175)ggA>ggT		Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.							100.0	103.0	102.0					19																	16496012		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16496012T>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2175A>T	19.37:g.16496012T>A						EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Silent_p.G615G|EPS15L1_uc002ndz.1_Silent_p.G725G|EPS15L1_uc010xpf.1_Silent_p.G628G|EPS15L1_uc002nea.1_Silent_p.G725G|EPS15L1_uc010eah.1_Silent_p.G727G	p.G725G	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			20	2181	-			725			15 X 3 AA repeats of D-P-F.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.2175A>T	CCDS32944.1																																																																																				0.542	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		5	129	0	0	0	1	0	5	129				
KBTBD3	143879	broad.mit.edu	37	11	105924439	105924439	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:105924439T>C	ENST00000526793.1	-	3	1136	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q247R|KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q326R	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	322										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CAGGTGTGATTGCGGCAGTAT	0.363																																						uc001pja.3																			0		p.P325S(2)|p.P325P(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(976-978)cAa>cGa		Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.							75.0	75.0	75.0					11																	105924439		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924439T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.977A>G	11.37:g.105924439T>C	ENSP00000436262:p.Gln326Arg					KBTBD3_uc001pjb.3_Missense_Mutation_p.Q326R|KBTBD3_uc009yxm.3_Missense_Mutation_p.Q247R	p.Q326R	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1617	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	322					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.977A>G	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	8.586	0.883379	0.17467	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.66099	-0.19;-0.19;-0.19	5.97	4.85	0.62838	Kelch-type beta propeller (1);	0.370685	0.34178	N	0.004199	T	0.44008	0.1273	N	0.14661	0.345	0.24935	N	0.991894	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35025	-0.9805	10	0.44086	T	0.13	.	11.5151	0.50515	0.0:0.0694:0.0:0.9306	.	326;322	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	R	247;326;326	ENSP00000431910:Q247R;ENSP00000436262:Q326R;ENSP00000432163:Q326R	ENSP00000436262:Q326R	Q	-	2	0	KBTBD3	105429649	0.985000	0.35326	0.944000	0.38274	0.962000	0.63368	2.110000	0.41873	2.287000	0.76781	0.482000	0.46254	CAA		0.363	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		14	79	0	0	0	1	0	14	79				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	55	0	0	0	1	0	25	55				
PRDM4	11108	broad.mit.edu	37	12	108134795	108134795	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:108134795G>A	ENST00000228437.5	-	10	2311	c.1852C>T	c.(1852-1854)Cac>Tac	p.H618Y	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	618					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCACACTTGTGGGGCTTCATA	0.473																																						uc001tmp.3																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(1852-1854)Cac>Tac		Homo sapiens PR domain containing 4 (PRDM4), mRNA.							149.0	145.0	146.0					12																	108134795		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108134795G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1852C>T	12.37:g.108134795G>A	ENSP00000228437:p.His618Tyr					PRDM4_uc001tmq.3_Non-coding_Transcript	p.H618Y	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN			9	2289	-			618					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.1852C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605971	0.46527	.	.	ENSG00000110851	ENST00000228437	T	0.24151	1.87	6.03	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	N	0.04805	-0.155	0.58432	D	0.999996	P	0.52577	0.954	P	0.52758	0.708	T	0.02053	-1.1222	10	0.02654	T	1	-1.3766	16.7665	0.85525	0.0:0.0:0.8706:0.1294	.	618	Q9UKN5	PRDM4_HUMAN	Y	618	ENSP00000228437:H618Y	ENSP00000228437:H618Y	H	-	1	0	PRDM4	106658925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.375000	0.79646	2.861000	0.98227	0.655000	0.94253	CAC		0.473	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		4	167	0	0	0	1	0	4	167				
