#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
UBE2F	140739	broad.mit.edu	37	2	238939226	238939226	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:238939226C>T	ENST00000272930.4	+	7	577	c.383C>T	c.(382-384)aCt>aTt	p.T128I	UBE2F_ENST00000409332.1_Missense_Mutation_p.T106I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409633.1_Missense_Mutation_p.T128I|UBE2F_ENST00000409953.1_Missense_Mutation_p.T104I|UBE2F_ENST00000414443.1_Missense_Mutation_p.T96I|RNU6-1333P_ENST00000516162.1_RNA	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	128					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		ATTGATGGCACTGGCTGGGCT	0.502																																						uc002vxk.3																			0				endometrium(1)|large_intestine(1)	2						c.(382-384)aCt>aTt		Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.							130.0	112.0	118.0					2																	238939226		2203	4300	6503	SO:0001583	missense	140739				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding	g.chr2:238939226C>T	BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"""Ubiquitin-conjugating enzymes E2"""	12480	protein-coding gene	gene with protein product	"""NEDD8 conjugating enzyme"""					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.383C>T	2.37:g.238939226C>T	ENSP00000272930:p.Thr128Ile					UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Missense_Mutation_p.T96I|UBE2F_uc010znp.2_Intron|SCLY_uc002vxm.4_5'UTR	p.T128I	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)	6	587	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	128					A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Missense_Mutation	SNP	ENST00000272930.4	37	c.383C>T	CCDS2523.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315734	0.40996	.	.	ENSG00000184182	ENST00000272930;ENST00000448502;ENST00000416292;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332;ENST00000434655;ENST00000434137	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.17	5.17	0.71159	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.049212	0.85682	D	0.000000	T	0.73560	0.3602	L	0.34521	1.04	0.44643	D	0.997623	B;B	0.30068	0.061;0.267	B;P	0.47864	0.068;0.559	T	0.73113	-0.4085	10	0.45353	T	0.12	-1.184	16.1839	0.81934	0.0:1.0:0.0:0.0	.	96;128	Q969M7-3;Q969M7	.;UBE2F_HUMAN	I	128;139;96;128;96;104;106;128;118	ENSP00000272930:T128I;ENSP00000390813:T96I;ENSP00000387299:T128I;ENSP00000399183:T96I;ENSP00000386680:T104I;ENSP00000387060:T106I;ENSP00000406113:T128I;ENSP00000414619:T118I	ENSP00000272930:T128I	T	+	2	0	UBE2F	238603965	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.171000	0.71926	2.419000	0.82065	0.655000	0.94253	ACT		0.502	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678		8	18	0	0	0	1	0	8	18				
FLNA	2316	broad.mit.edu	37	X	153585851	153585851	+	Silent	SNP	G	G	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chrX:153585851G>A	ENST00000369850.3	-	29	5132	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.Y1632Y|FLNA_ENST00000344736.4_Silent_p.Y1632Y|FLNA_ENST00000422373.1_Silent_p.Y1632Y	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1632					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACGCACGCGGTACGGGGAGA	0.657																																						uc004fkk.2																			0				breast(6)	6						c.(4894-4896)taC>taT		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							109.0	103.0	105.0					X																	153585851		2159	4231	6390	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding	g.chrX:153585851G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4896C>T	X.37:g.153585851G>A						FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Silent_p.Y1632Y	p.Y1632Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			28	5145	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1632					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4896C>T	CCDS48194.1																																																																																				0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	43	0	0	0	1	0	3	43				
MAPK10	5602	broad.mit.edu	37	4	87028402	87028402	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr4:87028402G>C	ENST00000359221.3	-	5	866	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	MAPK10_ENST00000395161.2_Missense_Mutation_p.L114V|MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000395169.3_Missense_Mutation_p.L76V|MAPK10_ENST00000395166.1_Missense_Mutation_p.L76V|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.L114V|MAPK10_ENST00000449047.2_5'UTR			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CACTTCATGAGGACCAGCTCC	0.433																																						uc003hps.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.(340-342)Ctc>Gtc		Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.							127.0	121.0	123.0					4																	87028402		2203	4300	6503	SO:0001583	missense	5602				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87028402G>C	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.340C>G	4.37:g.87028402G>C	ENSP00000352157:p.Leu114Val					MAPK10_uc010ikg.3_Missense_Mutation_p.L76V|MAPK10_uc003hpr.3_Missense_Mutation_p.L76V|MAPK10_uc003hpt.3_Missense_Mutation_p.L114V|MAPK10_uc003hpu.3_Missense_Mutation_p.L114V|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_5'UTR|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR	p.L114V	NM_138982	NP_620446	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	4	1026	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	114			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.340C>G	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.927042|4.927042	0.92389|0.92389	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000361569;ENST00000395166;ENST00000395161;ENST00000512017;ENST00000512564;ENST00000511167;ENST00000511328|ENST00000515400	T;T;T;T;T;T;T;T;T|.	0.64803|.	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12|.	5.9|5.9	5.9|5.9	0.94986|0.94986	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58566|0.58566	0.2131|0.2131	L|L	0.27975|0.27975	0.815|0.815	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.972|.	D;D;D|.	0.91635|.	0.999;0.999;0.91|.	T|T	0.50311|0.50311	-0.8843|-0.8843	10|5	0.87932|.	D|.	0|.	-13.8171|-13.8171	20.2787|20.2787	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	76;114;114|.	P53779-3;P53779-2;P53779|.	.;.;MK10_HUMAN|.	V|R	76;114;114;76;114;114;76;114;114|26	ENSP00000378598:L76V;ENSP00000352157:L114V;ENSP00000355297:L114V;ENSP00000378595:L76V;ENSP00000378590:L114V;ENSP00000424755:L114V;ENSP00000422985:L76V;ENSP00000422277:L114V;ENSP00000421762:L114V|.	ENSP00000309857:L114V|.	L|P	-|-	1|2	0|0	MAPK10|MAPK10	87247426|87247426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.798000|2.798000	0.96311|0.96311	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.433	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			3	75	0	0	0	1	0	3	75				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	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		39	56	0	0	0	1	0	39	56				
SVIL	6840	broad.mit.edu	37	10	29769508	29769508	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:29769508C>A	ENST00000355867.4	-	29	6087	c.5335G>T	c.(5335-5337)Gat>Tat	p.D1779Y	SVIL_ENST00000538146.1_Missense_Mutation_p.D571Y|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.D1353Y|SVIL_ENST00000375398.2_Missense_Mutation_p.D1779Y|SVIL_ENST00000535393.1_Missense_Mutation_p.D693Y|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1779					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACATAGGCATCCCCCTCATGG	0.557																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5335-5337)Gat>Tat		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							105.0	95.0	99.0					10																	29769508		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29769508C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5335G>T	10.37:g.29769508C>A	ENSP00000348128:p.Asp1779Tyr					LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.D693Y|SVIL_uc001iuu.1_Missense_Mutation_p.D1353Y|SVIL_uc009xlc.2_Missense_Mutation_p.D571Y	p.D1779Y	NM_021738	NP_068506	O95425	SVIL_HUMAN			28	6088	-		Breast(68;0.103)	1779					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5335G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581121	0.86748	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.91	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	H	0.95780	3.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.99;0.991;0.98	T	0.80214	-0.1475	10	0.87932	D	0	-28.0546	17.4706	0.87645	0.0:1.0:0.0:0.0	.	693;571;1353;1779	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	Y	1353;1779;1779;693;733;571	ENSP00000364549:D1353Y;ENSP00000364547:D1779Y;ENSP00000348128:D1779Y;ENSP00000445472:D693Y;ENSP00000440343:D571Y	ENSP00000348128:D1779Y	D	-	1	0	SVIL	29809514	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	7.559000	0.82265	2.337000	0.79520	0.561000	0.74099	GAT		0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			29	46	0	0	0	1	0	29	46				
ARHGEF40	55701	broad.mit.edu	37	14	21542856	21542856	+	Missense_Mutation	SNP	G	G	A	rs371889536		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr14:21542856G>A	ENST00000298694.4	+	3	1094	c.967G>A	c.(967-969)Gag>Aag	p.E323K	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E323K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	323	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCCAGGAGCTGAGGCTGTCCC	0.692																																						uc001vzp.3																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(967-969)Gag>Aag		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.							13.0	15.0	14.0					14																	21542856		2190	4285	6475	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542856G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.967G>A	14.37:g.21542856G>A	ENSP00000298694:p.Glu323Lys					ARHGEF40_uc001vzn.1_Missense_Mutation_p.E323K|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	p.E323K	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN			2	996	+			323			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.967G>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475813	0.44044	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02369	4.38;4.32	5.12	4.23	0.50019	.	0.000000	0.48767	D	0.000168	T	0.04907	0.0132	L	0.27053	0.805	0.09310	N	0.999992	P;D	0.54964	0.634;0.969	B;P	0.56278	0.168;0.795	T	0.35699	-0.9778	10	0.45353	T	0.12	.	8.5756	0.33597	0.1023:0.0:0.8977:0.0	.	323;323	Q8TER5;G3V3N2	ARH40_HUMAN;.	K	323	ENSP00000298694:E323K;ENSP00000298693:E323K	ENSP00000298693:E323K	E	+	1	0	ARHGEF40	20612696	0.116000	0.22171	0.987000	0.45799	0.420000	0.31355	3.116000	0.50399	2.395000	0.81488	0.561000	0.74099	GAG		0.692	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			4	10	0	0	0	1	0	4	10				
ASB10	136371	broad.mit.edu	37	7	150878358	150878358	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr7:150878358C>T	ENST00000420175.2	-	3	796	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	ASB10_ENST00000422024.1_Missense_Mutation_p.V303I|ASB10_ENST00000377867.3_Missense_Mutation_p.V243I|ASB10_ENST00000275838.1_Missense_Mutation_p.V258I|ASB10_ENST00000434669.1_Missense_Mutation_p.V303I			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	258					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGCGGACGTCACAGGCA	0.647																																						uc003wjm.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(772-774)Gtc>Atc		Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.							34.0	35.0	35.0					7																	150878358		2203	4296	6499	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878358C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.772G>A	7.37:g.150878358C>T	ENSP00000391137:p.Val258Ile					ASB10_uc003wjl.1_Missense_Mutation_p.V258I|ASB10_uc003wjn.1_Missense_Mutation_p.V243I	p.V258I	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1033	-			258					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.772G>A	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	2.073	-0.412622	0.04799	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.66460	-0.21;-0.16;-0.15;-0.18;-0.18	5.24	-7.91	0.01165	Ankyrin repeat-containing domain (3);	1.167680	0.06017	N	0.650686	T	0.44244	0.1284	N	0.05554	-0.025	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.10450	0.001;0.005;0.001	T	0.37596	-0.9699	10	0.37606	T	0.19	1.0133	14.6419	0.68732	0.0758:0.7497:0.0818:0.0927	.	243;258;303	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	I	258;243;303;303;258	ENSP00000275838:V258I;ENSP00000367098:V243I;ENSP00000401369:V303I;ENSP00000398247:V303I;ENSP00000391137:V258I	ENSP00000275838:V258I	V	-	1	0	ASB10	150509291	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.267000	0.08619	-1.837000	0.01189	-1.851000	0.00568	GTC		0.647	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		7	19	0	0	0	1	0	7	19				
B3GNTL1	146712	broad.mit.edu	37	17	80923589	80923589	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr17:80923589G>C	ENST00000320865.3	-	7	551	c.538C>G	c.(538-540)Ccc>Gcc	p.P180A	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_Missense_Mutation_p.P69A	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	180							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AACCAGGTGGGCATGATCACC	0.552																																						uc002kgg.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8						c.(538-540)Ccc>Gcc		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.							66.0	58.0	60.0					17																	80923589		2203	4300	6503	SO:0001583	missense	146712						transferase activity, transferring glycosyl groups	g.chr17:80923589G>C	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.538C>G	17.37:g.80923589G>C	ENSP00000319979:p.Pro180Ala					B3GNTL1_uc002kgf.1_Missense_Mutation_p.P69A|B3GNTL1_uc002kge.1_Non-coding_Transcript	p.P180A	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		6	552	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	180					Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	c.538C>G	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128925	0.77549	.	.	ENSG00000175711	ENST00000320865	T	0.61040	0.14	4.83	4.83	0.62350	Glycosyl transferase, family 2 (1);	0.060319	0.64402	D	0.000002	T	0.77432	0.4129	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79811	-0.1646	9	.	.	.	-23.0224	15.7877	0.78319	0.0:0.0:1.0:0.0	.	180	Q67FW5	B3GNL_HUMAN	A	180	ENSP00000319979:P180A	.	P	-	1	0	B3GNTL1	78516878	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.646000	0.83445	2.428000	0.82296	0.462000	0.41574	CCC		0.552	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		10	12	0	0	0	1	0	10	12				
SLC8A1	6546	broad.mit.edu	37	2	40342407	40342407	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:40342407T>C	ENST00000403092.1	-	11	2941	c.2908A>G	c.(2908-2910)Ata>Gta	p.I970V	SLC8A1_ENST00000332839.4_Missense_Mutation_p.I970V|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I965V|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I934V|SLC8A1_ENST00000406785.2_Missense_Mutation_p.I934V|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I965V|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I934V|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I934V|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I962V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	970					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGCCTTTTATGTGGCAGTAG	0.408																																						uc002rrx.3																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2908-2910)Ata>Gta		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						32.0	37.0	36.0					2																	40342407		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342407T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2908A>G	2.37:g.40342407T>C	ENSP00000384763:p.Ile970Val					LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.I965V|SLC8A1_uc002rsb.2_Missense_Mutation_p.I962V|SLC8A1_uc002rrz.3_Missense_Mutation_p.I957V|SLC8A1_uc002rsa.3_Missense_Mutation_p.I934V|SLC8A1_uc002rsd.4_Missense_Mutation_p.I934V	p.I970V	NM_021097	NP_066920	P32418	NAC1_HUMAN			9	2932	-			970					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2908A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554508	0.27739	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.37411	1.23;1.24;1.25;1.24;1.23;1.23;1.25;1.2;1.23;1.22	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.77712	2.385	0.53688	D	0.999979	B;D;B;B	0.76494	0.001;0.999;0.282;0.088	B;D;B;B	0.81914	0.002;0.995;0.31;0.06	T	0.64622	-0.6364	10	0.59425	D	0.04	.	14.3518	0.66708	0.0:0.0:0.0:1.0	.	934;957;965;970	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	V	934;970;965;970;965;934;934;970;962;957;934;934	ENSP00000383886:I934V;ENSP00000440727:I965V;ENSP00000384763:I970V;ENSP00000385678:I965V;ENSP00000385188:I934V;ENSP00000385535:I934V;ENSP00000332931:I970V;ENSP00000384908:I962V;ENSP00000385811:I934V;ENSP00000443515:I934V	ENSP00000332931:I970V	I	-	1	0	SLC8A1	40195911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.722000	0.47269	2.275000	0.75901	0.528000	0.53228	ATA		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		3	57	0	0	0	1	0	3	57				
IL2RA	3559	broad.mit.edu	37	10	6061871	6061871	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:6061871C>T	ENST00000379959.3	-	5	790	c.617G>A	c.(616-618)cGt>cAt	p.R206H	IL2RA_ENST00000379954.1_Missense_Mutation_p.R134H|SNORA14_ENST00000516113.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.R197H	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	206					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACTCTCAGGACGGCCTTCGGG	0.597																																						uc001iiz.2																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(616-618)cGt>cAt		Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						125.0	110.0	115.0					10																	6061871		2203	4300	6503	SO:0001583	missense	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6061871C>T	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.617G>A	10.37:g.6061871C>T	ENSP00000369293:p.Arg206His					IL2RA_uc009xih.2_Missense_Mutation_p.R134H|IL2RA_uc001ija.1_Intron	p.R206H	NM_000417	NP_000408	P01589	IL2RA_HUMAN			4	836	-			206					Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	c.617G>A	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072145	0.20147	.	.	ENSG00000134460	ENST00000379959;ENST00000379954;ENST00000256876	T;T;T	0.44482	1.51;0.92;1.51	3.59	-4.44	0.03557	.	2.559910	0.01159	N	0.006616	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	B;B	0.19935	0.04;0.0	B;B	0.12156	0.007;0.0	T	0.09574	-1.0668	10	0.40728	T	0.16	-6.0987	3.5462	0.07829	0.1727:0.1546:0.521:0.1518	.	134;206	Q5W005;P01589	.;IL2RA_HUMAN	H	206;134;197	ENSP00000369293:R206H;ENSP00000369287:R134H;ENSP00000256876:R197H	ENSP00000256876:R197H	R	-	2	0	IL2RA	6101877	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.274000	0.08537	-0.962000	0.03604	-1.717000	0.00709	CGT		0.597	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		4	85	0	0	0	1	0	4	85				
VAV3	10451	broad.mit.edu	37	1	108292102	108292102	+	Silent	SNP	G	G	A	rs143070546		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr1:108292102G>A	ENST00000370056.4	-	14	1648	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	VAV3_ENST00000527011.1_Silent_p.T458T|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T393T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTTCTTTATCGGTTGTAGGAT	0.294													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18953	0.0		0.0	False		,,,				2504	0.0					uc010ouw.1																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(1372-1374)acC>acT		Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.							144.0	132.0	137.0					1																	108292102		2202	4299	6501	SO:0001819	synonymous_variant	10451				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	g.chr1:108292102G>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1374C>T	1.37:g.108292102G>A						VAV3_uc001dvk.1_Silent_p.T458T|VAV3_uc001dvl.1_Silent_p.T282T|VAV3_uc010oux.1_Silent_p.T458T	p.T458T	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	13	1428	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	458			PH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.1374C>T	CCDS785.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.209	0.595054	0.13875	.	.	ENSG00000134215	ENST00000529809;ENST00000490388	.	.	.	5.83	-3.51	0.04696	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33727	-0.9857	4	.	.	.	.	2.4834	0.04593	0.2864:0.3991:0.1195:0.1949	.	.	.	.	L	10;453	.	.	P	-	2	0	VAV3	108093625	0.004000	0.15560	0.968000	0.41197	0.924000	0.55760	-0.998000	0.03701	-0.845000	0.04179	-1.295000	0.01343	CCG		0.294	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		9	42	0	0	0	1	0	9	42				
WIPF1	7456	broad.mit.edu	37	2	175436655	175436655	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:175436655G>A	ENST00000392547.2	-	5	977	c.878C>T	c.(877-879)cCa>cTa	p.P293L	WIPF1_ENST00000359761.3_Missense_Mutation_p.P293L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.P293L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P293L|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409415.3_Missense_Mutation_p.P293L|WIPF1_ENST00000272746.5_Missense_Mutation_p.P293L|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	293	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAAGGCACTGGAGGCTTGTT	0.672																																						uc010fqt.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(877-879)cCa>cTa		Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.							29.0	33.0	32.0					2																	175436655		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436655G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.878C>T	2.37:g.175436655G>A	ENSP00000376330:p.Pro293Leu					BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.P293L|WIPF1_uc002ujc.1_Missense_Mutation_p.P293L|WIPF1_uc002uiz.3_Missense_Mutation_p.P293L|WIPF1_uc002ujb.2_Missense_Mutation_p.P293L|WIPF1_uc010zep.1_Missense_Mutation_p.P293L	p.P293L	NM_003387	NP_003378	O43516	WIPF1_HUMAN			4	1042	-			293			Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.878C>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312460	0.60414	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.58652	0.99;1.0;0.99;0.99;0.32;0.84	4.38	4.38	0.52667	.	0.061457	0.64402	D	0.000003	T	0.74596	0.3737	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.996	T	0.76666	-0.2875	10	0.46703	T	0.11	.	16.5334	0.84366	0.0:0.0:1.0:0.0	.	293;293;293;293	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	L	293	ENSP00000376330:P293L;ENSP00000272746:P293L;ENSP00000352802:P293L;ENSP00000376329:P293L;ENSP00000386431:P293L;ENSP00000387150:P293L	ENSP00000272746:P293L	P	-	2	0	WIPF1	175144901	1.000000	0.71417	0.993000	0.49108	0.203000	0.24098	7.748000	0.85085	1.986000	0.57962	0.430000	0.28490	CCA		0.672	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		3	22	0	0	0	1	0	3	22				
CCDC39	339829	broad.mit.edu	37	3	180381735	180381735	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr3:180381735C>T	ENST00000442201.2	-	2	249	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E128K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	44					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCACGTAACTCATCTTGCAAG	0.333																																						uc010hxe.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(130-132)Gag>Aag		Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.							155.0	144.0	147.0					3																	180381735		1846	4108	5954	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381735C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.130G>A	3.37:g.180381735C>T	ENSP00000405708:p.Glu44Lys					CCDC39_uc003fkn.3_Non-coding_Transcript	p.E44K	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		1	245	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		44					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.130G>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414176	0.25465	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	T	0.79940	-1.32	6.07	4.25	0.50352	.	0.261298	0.44097	D	0.000491	T	0.66799	0.2826	N	0.13098	0.295	0.26601	N	0.973013	B	0.14438	0.01	B	0.17098	0.017	T	0.53229	-0.8468	10	0.27785	T	0.31	-11.5444	14.3314	0.66559	0.0:0.2868:0.7132:0.0	.	44	Q9UFE4	CCD39_HUMAN	K	128;44;26	ENSP00000418702:E26K	ENSP00000273654:E128K	E	-	1	0	CCDC39	181864429	0.999000	0.42202	0.792000	0.32020	0.226000	0.24999	1.157000	0.31724	0.872000	0.35775	-0.234000	0.12200	GAG		0.333	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		9	65	0	0	0	1	0	9	65				
MRFAP1L1	114932	broad.mit.edu	37	4	6711139	6711139	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr4:6711139G>A	ENST00000320848.6	-	1	468	c.218C>T	c.(217-219)gCc>gTc	p.A73V		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	73																	CTCCTCCGAGGCCTCCACCTG	0.602																																						uc003gjo.3																			0											c.(217-219)gCc>gTc		Homo sapiens Morf4 family associated protein 1-like 1 (MRFAP1L1), mRNA.							136.0	120.0	125.0					4																	6711139		2203	4300	6503	SO:0001583	missense	114932							g.chr4:6711139G>A	AF258591	CCDS3392.1	4p16.1	2008-02-05			ENSG00000178988	ENSG00000178988			28796	protein-coding gene	gene with protein product						12477932	Standard	NM_203462		Approved	MGC9651	uc003gjo.3	Q96HT8	OTTHUMG00000125507	ENST00000320848.6:c.218C>T	4.37:g.6711139G>A	ENSP00000318154:p.Ala73Val					MRFAP1L1_uc021xlc.1_Missense_Mutation_p.A73V	p.A73V	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN			0	468	-			73					B2R6R0|Q6NXT8|Q9P0J5	Missense_Mutation	SNP	ENST00000320848.6	37	c.218C>T	CCDS3392.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317269	0.40996	.	.	ENSG00000178988	ENST00000320848	.	.	.	2.57	1.71	0.24356	.	0.464806	0.13479	U	0.384841	T	0.31327	0.0793	L	0.29908	0.895	0.23271	N	0.998003	B	0.31209	0.313	B	0.35278	0.199	T	0.30001	-0.9993	9	0.87932	D	0	.	7.3635	0.26760	0.0:0.2724:0.7276:0.0	.	73	Q96HT8	MR1L1_HUMAN	V	73	.	ENSP00000318154:A73V	A	-	2	0	MRFAP1L1	6762040	1.000000	0.71417	0.996000	0.52242	0.044000	0.14063	2.662000	0.46766	0.626000	0.30322	-0.165000	0.13383	GCC		0.602	MRFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246834.1	NM_152301		6	162	0	0	0	1	0	6	162				
ARMCX1	51309	broad.mit.edu	37	X	100808364	100808364	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chrX:100808364G>A	ENST00000372829.3	+	4	822	c.451G>A	c.(451-453)Ggc>Agc	p.G151S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	151						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CAGGGGTGGAGGCTGCCACCC	0.617																																						uc004ehv.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						c.(451-453)Ggc>Agc		Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.							53.0	53.0	53.0					X																	100808364		2202	4299	6501	SO:0001583	missense	51309					integral to membrane	binding	g.chrX:100808364G>A	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.451G>A	X.37:g.100808364G>A	ENSP00000361917:p.Gly151Ser					ARMCX1_uc004ehw.3_Missense_Mutation_p.G151S|ARMCX1_uc022cak.1_Missense_Mutation_p.G151S	p.G151S	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN			3	822	+			151					Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.451G>A	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	g	16.00	2.998410	0.54147	.	.	ENSG00000126947	ENST00000372829	T	0.38240	1.15	3.86	2.08	0.27032	.	0.654108	0.13245	N	0.402557	T	0.19967	0.0480	N	0.24115	0.695	0.29020	N	0.886337	B	0.24882	0.113	B	0.20577	0.03	T	0.21449	-1.0245	10	0.21540	T	0.41	-1.4967	5.1178	0.14845	0.2772:0.0:0.7228:0.0	.	151	Q9P291	ARMX1_HUMAN	S	151	ENSP00000361917:G151S	ENSP00000361917:G151S	G	+	1	0	ARMCX1	100695020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.493000	0.35605	0.419000	0.25927	0.556000	0.70494	GGC		0.617	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		4	141	0	0	0	1	0	4	141				
FAM153B	202134	broad.mit.edu	37	5	175530270	175530270	+	Missense_Mutation	SNP	C	C	A	rs367572504		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr5:175530270C>A	ENST00000253490.4	+	13	762	c.705C>A	c.(703-705)aaC>aaA	p.N235K	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.N158K|FAM153B_ENST00000510151.1_Missense_Mutation_p.N158K			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	235										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCAGTTACAACGGCGAGGAGG	0.448																																						uc003mdk.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16						c.(703-705)aaC>aaA		Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.							293.0	301.0	298.0					5																	175530270		2203	4300	6503	SO:0001583	missense	202134							g.chr5:175530270C>A	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.705C>A	5.37:g.175530270C>A	ENSP00000253490:p.Asn235Lys					FAM153B_uc021yic.1_Intron	p.N235K	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	12	762	+	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	235					A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37	c.705C>A		.	.	.	.	.	.	.	.	.	.	C	9.538	1.112649	0.20795	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	1.26	-1.25	0.09405	.	.	.	.	.	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.20384	0.029	T	0.20438	-1.0275	8	0.54805	T	0.06	.	3.5061	0.07691	0.0:0.396:0.3535:0.2505	.	235	P0C7A2	F153B_HUMAN	K	158;235	.	ENSP00000253490:N235K	N	+	3	2	FAM153B	175462876	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.805000	0.00758	-0.438000	0.07232	-1.250000	0.01514	AAC		0.448	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		58	271	0	0	0	1	0	58	271				
COMTD1	118881	broad.mit.edu	37	10	76994748	76994748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:76994748delG	ENST00000372538.3	-	5	532	c.450delC	c.(448-450)gccfs	p.A150fs	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	150						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	O-methyltransferase activity (GO:0008171)			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GCTCCGCCTCGGCCTGCGGAG	0.697																																					Colon(106;1192 2596 47278)	uc001jxb.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(448-450)gccfs		Homo sapiens catechol-O-methyltransferase domain containing 1 (COMTD1), mRNA.							10.0	8.0	9.0					10																	76994748		1912	3682	5594	SO:0001589	frameshift_variant	118881					integral to membrane	O-methyltransferase activity	g.chr10:76994748delG		CCDS7349.1	10q22.2	2013-09-20			ENSG00000165644	ENSG00000165644			26309	protein-coding gene	gene with protein product						12975309	Standard	NM_144589		Approved	FLJ23841	uc001jxb.3	Q86VU5	OTTHUMG00000018518	ENST00000372538.3:c.450delC	10.37:g.76994748delG	ENSP00000361616:p.Ala150fs						p.A150fs	NM_144589	NP_653190	Q86VU5	CMTD1_HUMAN			4	534	-	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		150					Q8TE79	Frame_Shift_Del	DEL	ENST00000372538.3	37	c.450delC	CCDS7349.1																																																																																				0.697	COMTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048802.1	NM_144589		2	4						2	4	---	---	---	---
