#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
BOLL	66037	broad.mit.edu	37	2	198640461	198640461	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:198640461C>G	ENST00000392296.4	-	5	589	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	BOLL_ENST00000430004.1_Missense_Mutation_p.E94Q|BOLL_ENST00000282278.8_Intron|BOLL_ENST00000321801.7_Missense_Mutation_p.E106Q|BOLL_ENST00000433157.1_Missense_Mutation_p.E94Q	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	94	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TTAAGTTTTTCAGCCtaaaat	0.249																																						uc002uuu.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.(298-300)Gaa>Caa		Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.							62.0	64.0	64.0					2																	198640461		2200	4275	6475	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity	g.chr2:198640461C>G		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.280G>C	2.37:g.198640461C>G	ENSP00000376116:p.Glu94Gln					BOLL_uc002uur.2_Missense_Mutation_p.E100Q|BOLL_uc002uus.2_Missense_Mutation_p.E94Q|BOLL_uc002uut.2_Missense_Mutation_p.E106Q|BOLL_uc010zha.1_Intron	p.E100Q	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			4	677	-			94			RRM.		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.298G>C	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236428	0.58886	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.221025	0.40144	N	0.001170	T	0.24661	0.0598	N	0.13327	0.33	0.80722	D	1	P;P;B;B	0.39862	0.541;0.692;0.121;0.099	B;B;B;B	0.39840	0.157;0.311;0.155;0.096	T	0.08330	-1.0727	10	0.72032	D	0.01	-12.0074	11.635	0.51198	0.0:0.9157:0.0:0.0843	.	100;106;94;100	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	Q	94;94;106;94	ENSP00000397711:E94Q;ENSP00000376116:E94Q;ENSP00000314792:E106Q;ENSP00000396099:E94Q	ENSP00000314792:E106Q	E	-	1	0	BOLL	198348706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.346000	0.52190	2.485000	0.83878	0.650000	0.86243	GAA		0.249	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		10	39	0	0	0	1	0	10	39				
LGI3	203190	broad.mit.edu	37	8	22009364	22009364	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr8:22009364T>C	ENST00000306317.2	-	6	933	c.644A>G	c.(643-645)gAg>gGg	p.E215G	LGI3_ENST00000424267.2_Missense_Mutation_p.E191G	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	215	LRRCT.				exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCAATCGAACTCCCGCAGCGG	0.647																																						uc003xav.3																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(643-645)gAg>gGg		Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.							68.0	69.0	69.0					8																	22009364		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22009364T>C	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.644A>G	8.37:g.22009364T>C	ENSP00000302297:p.Glu215Gly					LGI3_uc010ltu.3_Missense_Mutation_p.E191G	p.E215G	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	5	933	-			215			LRRCT.		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.644A>G	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174564	0.57692	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	T;T;T	0.69306	-0.13;-0.39;0.13	4.85	4.85	0.62838	Cysteine-rich flanking region, C-terminal (1);	0.189210	0.44902	D	0.000401	T	0.57066	0.2028	L	0.54908	1.71	0.46222	D	0.998939	P;P	0.42409	0.779;0.462	B;B	0.32393	0.145;0.084	T	0.64495	-0.6394	10	0.66056	D	0.02	-20.3035	12.3904	0.55355	0.0:0.0:0.0:1.0	.	191;215	A5PLP2;Q8N145	.;LGI3_HUMAN	G	215;191;176	ENSP00000302297:E215G;ENSP00000399121:E191G;ENSP00000427817:E176G	ENSP00000302297:E215G	E	-	2	0	LGI3	22065309	1.000000	0.71417	0.999000	0.59377	0.602000	0.36980	6.204000	0.72143	1.808000	0.52836	0.379000	0.24179	GAG		0.647	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			52	133	0	0	0	1	0	52	133				
CLTCL1	8218	broad.mit.edu	37	22	19195776	19195776	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr22:19195776T>C	ENST00000263200.10	-	22	3560	c.3488A>G	c.(3487-3489)aAg>aGg	p.K1163R	CLTCL1_ENST00000353891.5_Missense_Mutation_p.K1163R|CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000427926.1_Missense_Mutation_p.K1163R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1163	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCACGGCCCTTTTTCCTGGC	0.403			T	?	ALCL																																	uc021wle.1				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3487-3489)aAg>aGg		Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.							89.0	89.0	89.0					22																	19195776		1834	4086	5920	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19195776T>C		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3488A>G	22.37:g.19195776T>C	ENSP00000445677:p.Lys1163Arg					CLTCL1_uc021wld.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlc.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlf.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agw.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpd.1_Intron|CLTCL1_uc002zpe.2_Missense_Mutation_p.K123R	p.K1163R	NM_007098	NP_009029	P53675	CLH2_HUMAN			21	3563	-	Colorectal(54;0.0993)		1163			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3488A>G	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.612046	0.46631	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21734	1.99;1.99;1.99	4.03	0.206	0.15208	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.344242	0.29314	N	0.012505	T	0.23649	0.0572	M	0.82056	2.57	0.48632	D	0.999685	B;B	0.17268	0.007;0.021	B;B	0.32583	0.132;0.148	T	0.04885	-1.0920	10	0.37606	T	0.19	-5.8071	2.5169	0.04670	0.1819:0.0813:0.137:0.5998	.	1163;1163	P53675-2;P53675	.;CLH2_HUMAN	R	1163	ENSP00000439662:K1163R;ENSP00000445677:K1163R;ENSP00000441158:K1163R	ENSP00000445677:K1163R	K	-	2	0	CLTCL1	17575776	1.000000	0.71417	0.080000	0.20451	0.982000	0.71751	4.242000	0.58714	-0.273000	0.09246	0.528000	0.53228	AAG		0.403	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	90	0	0	0	1	0	3	90				
SYNE1	23345	broad.mit.edu	37	6	152590391	152590391	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:152590391C>A	ENST00000367255.5	-	99	19205	c.18604G>T	c.(18604-18606)Gtt>Ttt	p.V6202F	SYNE1_ENST00000341594.5_Missense_Mutation_p.V5814F|SYNE1_ENST00000423061.1_Missense_Mutation_p.V6131F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V6202F|SYNE1_ENST00000356820.4_Missense_Mutation_p.V726F|SYNE1_ENST00000448038.1_Missense_Mutation_p.V6131F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6202					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTAGGTCAACATCGCTCTCC	0.562										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18604-18606)Gtt>Ttt		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							166.0	127.0	141.0					6																	152590391		2203	4300	6503	SO:0001583	missense	23345				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	g.chr6:152590391C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18604G>T	6.37:g.152590391C>A	ENSP00000356224:p.Val6202Phe	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.V726F|SYNE1_uc003qot.4_Missense_Mutation_p.V6131F|SYNE1_uc003qou.4_Missense_Mutation_p.V6202F	p.V6202F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	96	18827	-		Ovarian(120;0.0955)	6202					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18604G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250822	0.39797	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56611	0.55;0.56;0.45;0.56;0.68;0.86	5.57	4.68	0.58851	.	1.162910	0.06406	N	0.719698	T	0.20861	0.0502	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28605	0.083;0.083;0.217	B;B;B	0.28916	0.027;0.027;0.096	T	0.28490	-1.0042	10	0.10111	T	0.7	.	9.3055	0.37872	0.3673:0.4961:0.1367:0.0	.	6202;6202;6131	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	F	6202;6131;6202;6131;5814;726	ENSP00000356224:V6202F;ENSP00000396024:V6131F;ENSP00000265368:V6202F;ENSP00000390975:V6131F;ENSP00000341887:V5814F;ENSP00000349276:V726F	ENSP00000265368:V6202F	V	-	1	0	SYNE1	152632084	0.000000	0.05858	0.002000	0.10522	0.309000	0.27889	0.962000	0.29280	1.444000	0.47605	0.655000	0.94253	GTT		0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	84	0	0	0	1	0	28	84				
MAGEE2	139599	broad.mit.edu	37	X	75004811	75004811	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chrX:75004811T>C	ENST00000373359.2	-	1	268	c.76A>G	c.(76-78)Ata>Gta	p.I26V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	26										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTAGCTTGTATTTCACCTCTG	0.572																																						uc004ecj.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(76-78)Ata>Gta		Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.							41.0	32.0	35.0					X																	75004811		2202	4300	6502	SO:0001583	missense	139599							g.chrX:75004811T>C	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.76A>G	X.37:g.75004811T>C	ENSP00000362457:p.Ile26Val						p.I26V	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			0	269	-			26					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.76A>G	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	T	9.523	1.108753	0.20714	.	.	ENSG00000186675	ENST00000373359	T	0.03441	3.93	2.86	1.7	0.24286	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48833	-0.9000	9	0.23302	T	0.38	.	4.1157	0.10081	0.0:0.1691:0.0:0.8309	.	26	Q8TD90	MAGE2_HUMAN	V	26	ENSP00000362457:I26V	ENSP00000362457:I26V	I	-	1	0	MAGEE2	74921536	0.886000	0.30341	0.088000	0.20740	0.049000	0.14656	0.414000	0.21164	0.391000	0.25143	0.412000	0.27726	ATA		0.572	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		19	65	0	0	0	1	0	19	65				
CHD5	26038	broad.mit.edu	37	1	6194802	6194802	+	Silent	SNP	G	G	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr1:6194802G>C	ENST00000262450.3	-	19	3087	c.2988C>G	c.(2986-2988)ccC>ccG	p.P996P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAAGAGGTAGGGGTGGTTGC	0.587																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2986-2988)ccC>ccG		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							218.0	227.0	224.0					1																	6194802		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6194802G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2988C>G	1.37:g.6194802G>C						CHD5_uc001alz.2_5'Flank|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	p.P996P	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	18	3099	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	996					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2988C>G	CCDS57.1																																																																																				0.587	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		76	195	0	0	0	1	0	76	195				
LRRC37A6P	387646	broad.mit.edu	37	10	27538642	27538642	+	lincRNA	SNP	G	G	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr10:27538642G>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTAACCTCTTGATATACTGGA	0.473																																						uc001its.2																			0											c.(751-753)Caa>Gaa		Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.							75.0	65.0	68.0					10																	27538642		692	1591	2283			387646							g.chr10:27538642G>C																													10.37:g.27538642G>C							p.Q251E							0	2594	-									Missense_Mutation	SNP	ENST00000574842.1	37	c.751C>G																																																																																					0.473	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			20	98	0	0	0	1	0	20	98				
TRIM28	10155	broad.mit.edu	37	19	59056853	59056853	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr19:59056853C>A	ENST00000253024.5	+	2	691	c.402C>A	c.(400-402)ttC>ttA	p.F134L	RN7SL525P_ENST00000579267.1_RNA|TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	134	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGAATTATTTCATGCGTGATA	0.552																																						uc002qtg.1																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(400-402)ttC>ttA		Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.							91.0	98.0	96.0					19																	59056853		2203	4299	6502	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59056853C>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.402C>A	19.37:g.59056853C>A	ENSP00000253024:p.Phe134Leu					TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank	p.F134L	NM_005762	NP_005753	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	1	691	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	134			RBCC domain.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.402C>A	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158697	0.78226	.	.	ENSG00000130726	ENST00000253024	T	0.66099	-0.19	4.36	-4.31	0.03698	.	0.000000	0.51477	D	0.000086	T	0.57519	0.2059	N	0.20986	0.625	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.60845	-0.7182	10	0.87932	D	0	-13.804	13.3061	0.60352	0.0:0.7558:0.0:0.2442	.	134	Q13263	TIF1B_HUMAN	L	134	ENSP00000253024:F134L	ENSP00000253024:F134L	F	+	3	2	TRIM28	63748665	0.025000	0.19082	0.608000	0.28969	0.945000	0.59286	-1.557000	0.02166	-0.800000	0.04433	-0.389000	0.06534	TTC		0.552	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		4	216	0	0	0	1	0	4	216				
TCF7L1	83439	broad.mit.edu	37	2	85533408	85533408	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:85533408A>T	ENST00000282111.3	+	9	1344	c.1069A>T	c.(1069-1071)Atg>Ttg	p.M357L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	357					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CATGTTGTATATGAAGGAGAT	0.512																																						uc002soy.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1069-1071)Atg>Ttg		Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.							128.0	117.0	121.0					2																	85533408		2203	4300	6503	SO:0001583	missense	83439				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85533408A>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1069A>T	2.37:g.85533408A>T	ENSP00000282111:p.Met357Leu						p.M357L	NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN			8	1294	+			357					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.1069A>T	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	A	30	5.054709	0.93793	.	.	ENSG00000152284	ENST00000282111	D	0.97850	-4.57	5.17	5.17	0.71159	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	M	0.64170	1.965	0.80722	D	1	P	0.45348	0.856	P	0.60949	0.881	D	0.98834	1.0752	10	0.87932	D	0	.	12.9671	0.58490	1.0:0.0:0.0:0.0	.	357	Q9HCS4	TF7L1_HUMAN	L	357	ENSP00000282111:M357L	ENSP00000282111:M357L	M	+	1	0	TCF7L1	85386919	1.000000	0.71417	0.987000	0.45799	0.957000	0.61999	9.323000	0.96364	1.952000	0.56665	0.482000	0.46254	ATG		0.512	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		22	58	0	0	0	1	0	22	58				
TENM2	57451	broad.mit.edu	37	5	167655023	167655023	+	Missense_Mutation	SNP	T	T	C	rs6859235		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr5:167655023T>C	ENST00000518659.1	+	25	5447	c.5408T>C	c.(5407-5409)aTt>aCt	p.I1803T	TENM2_ENST00000519204.1_Missense_Mutation_p.I1682T|TENM2_ENST00000403607.2_Missense_Mutation_p.I1627T|CTB-178M22.2_ENST00000519795.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.I1564T|TENM2_ENST00000545108.1_Missense_Mutation_p.I1802T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1803					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCCCCACCATTGGACGCTGC	0.512																																						uc010jjd.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(5380-5382)aTt>aCt		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.							51.0	54.0	53.0					5																	167655023		2051	4201	6252	SO:0001583	missense	57451							g.chr5:167655023T>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5408T>C	5.37:g.167655023T>C	ENSP00000429430:p.Ile1803Thr					ODZ2_uc003lzr.4_Missense_Mutation_p.I1564T|ODZ2_uc003lzt.4_Missense_Mutation_p.I1167T|ODZ2_uc010jje.3_Missense_Mutation_p.I1058T	p.I1794T	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	24	5381	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5381T>C		.	.	.	.	.	.	.	.	.	.	T	19.26	3.792826	0.70452	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.08;-2.07;-2.18;-2.54;-2.55	5.66	5.66	0.87406	.	0.090234	0.85682	D	0.000000	D	0.92364	0.7577	L	0.53249	1.67	0.50813	D	0.999899	P;P;D	0.58970	0.868;0.61;0.984	P;B;D	0.69479	0.492;0.219;0.964	D	0.91118	0.4927	10	0.31617	T	0.26	.	15.8895	0.79286	0.0:0.0:0.0:1.0	rs6859235;rs6859235	1802;1803;1564	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	T	1803;1802;1682;1564;1627	ENSP00000429430:I1803T;ENSP00000438635:I1802T;ENSP00000428964:I1682T;ENSP00000427874:I1564T;ENSP00000384905:I1627T	ENSP00000384905:I1627T	I	+	2	0	ODZ2	167587601	1.000000	0.71417	0.964000	0.40570	0.930000	0.56654	6.289000	0.72696	2.153000	0.67306	0.459000	0.35465	ATT		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		19	31	0	0	0	1	0	19	31				
CENPW	387103	broad.mit.edu	37	6	126661490	126661490	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:126661490G>A	ENST00000368328.4	+	1	171	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	CENPW_ENST00000368325.1_Missense_Mutation_p.R24Q|CENPW_ENST00000368326.1_Missense_Mutation_p.R24Q			Q5EE01	CENPW_HUMAN	centromere protein W	24					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						TTTCTAAAGCGAGTCTTCAAG	0.542																																						uc003qao.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(70-72)cGa>cAa		Homo sapiens centromere protein W (CENPW), mRNA.							87.0	80.0	82.0					6																	126661490		2203	4300	6503	SO:0001583	missense	387103					chromosome, centromeric region|nucleus	DNA binding	g.chr6:126661490G>A	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"""cancer-upregulated gene 2"""	611264	"""chromosome 6 open reading frame 173"""	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.71G>A	6.37:g.126661490G>A	ENSP00000357311:p.Arg24Gln						p.R24Q	NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN			0	238	+			24					A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	c.71G>A	CCDS34529.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695973	0.88830	.	.	ENSG00000203760	ENST00000368326;ENST00000368325;ENST00000368328	T	0.35421	1.31	5.32	5.32	0.75619	Histone-fold (1);	0.000000	0.49305	D	0.000142	T	0.30262	0.0759	.	.	.	0.20403	N	0.999906	D	0.69078	0.997	P	0.51193	0.662	T	0.07947	-1.0746	9	0.46703	T	0.11	.	14.3678	0.66817	0.0:0.0:1.0:0.0	.	24	Q5EE01	CENPW_HUMAN	Q	24	ENSP00000357311:R24Q	ENSP00000357308:R24Q	R	+	2	0	CENPW	126703183	0.711000	0.27906	0.494000	0.27515	0.977000	0.68977	2.143000	0.42187	2.767000	0.95098	0.563000	0.77884	CGA		0.542	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			26	52	0	0	0	1	0	26	52				
MYLK	4638	broad.mit.edu	37	3	123420311	123420311	+	Silent	SNP	C	C	T			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr3:123420311C>T	ENST00000475616.1	-	14	2435	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Silent_p.Q812Q|MYLK_ENST00000360304.3_Silent_p.Q812Q|MYLK_ENST00000346322.5_Silent_p.Q743Q|MYLK_ENST00000360772.3_Silent_p.Q812Q			Q15746	MYLK_HUMAN	myosin light chain kinase	812	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGAGCTGTTCTGTAGCATCA	0.607																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2434-2436)caG>caA		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							69.0	73.0	72.0					3																	123420311		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123420311C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2436G>A	3.37:g.123420311C>T						MYLK_uc011bjw.2_Silent_p.Q812Q|MYLK_uc003egp.3_Silent_p.Q743Q|MYLK_uc003egq.3_Silent_p.Q812Q|MYLK_uc003egr.3_Silent_p.Q743Q|MYLK_uc003egs.3_Silent_p.Q636Q|MYLK_uc003egt.3_Silent_p.Q3Q	p.Q812Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	16	2718	-		Lung NSC(201;0.0496)	812			Ig-like C2-type 6.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2436G>A	CCDS46896.1																																																																																				0.607	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		32	170	0	0	0	1	0	32	170				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	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	82	0	0	0	1	0	25	82				
MDN1	23195	broad.mit.edu	37	6	90384187	90384187	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:90384187T>A	ENST00000369393.3	-	79	12998	c.12883A>T	c.(12883-12885)Atg>Ttg	p.M4295L	MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.M4295L|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4295					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGCACTGCATGGCCAGGTGC	0.652																																						uc003pnn.1																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(12883-12885)Atg>Ttg		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							25.0	25.0	25.0					6																	90384187		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90384187T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12883A>T	6.37:g.90384187T>A	ENSP00000358400:p.Met4295Leu						p.M4295L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	78	12999	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4295					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.12883A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214634	0.39102	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02787	4.16;4.16	5.87	5.87	0.94306	.	0.095560	0.64402	D	0.000001	T	0.01661	0.0053	L	0.49126	1.545	0.33607	D	0.603137	B	0.15719	0.014	B	0.16289	0.015	T	0.48364	-0.9042	10	0.20046	T	0.44	.	16.27	0.82612	0.0:0.0:0.0:1.0	.	4295	Q9NU22	MDN1_HUMAN	L	4295	ENSP00000358400:M4295L;ENSP00000413970:M4295L	ENSP00000358400:M4295L	M	-	1	0	MDN1	90440908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.599000	0.54045	2.248000	0.74166	0.533000	0.62120	ATG		0.652	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			9	19	0	0	0	1	0	9	19				
EMC1	23065	broad.mit.edu	37	1	19557814	19557814	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr1:19557814G>A	ENST00000477853.1	-	16	1927	c.1885C>T	c.(1885-1887)Ctc>Ttc	p.L629F	EMC1_ENST00000375199.3_Missense_Mutation_p.L628F|EMC1_ENST00000375208.3_Missense_Mutation_p.L607F|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	629						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											ATGACTGGGAGAAGCAAGGAC	0.502																																						uc001bbo.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1885-1887)Ctc>Ttc		Homo sapiens KIAA0090 (KIAA0090), mRNA.							134.0	138.0	137.0					1																	19557814		2203	4300	6503	SO:0001583	missense	23065					integral to membrane	protein binding	g.chr1:19557814G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1885C>T	1.37:g.19557814G>A	ENSP00000420608:p.Leu629Phe					KIAA0090_uc001bbp.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbq.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbr.3_Missense_Mutation_p.L607F	p.L629F	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	15	1928	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	629					A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.1885C>T	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.54|18.54	3.646002|3.646002	0.67358|0.67358	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.34472|.	1.36;1.37;1.37|.	4.73|4.73	3.81|3.81	0.43845|0.43845	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73814|0.73814	0.3635|0.3635	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	P;P;B;B|.	0.36125|.	0.538;0.538;0.36;0.246|.	B;B;B;B|.	0.43225|.	0.412;0.412;0.139;0.066|.	T|T	0.74763|0.74763	-0.3555|-0.3555	9|5	.|.	.|.	.|.	-14.9412|-14.9412	10.3467|10.3467	0.43909|0.43909	0.0935:0.0:0.9065:0.0|0.0935:0.0:0.9065:0.0	.|.	607;628;628;629|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	F|F	629;628;607|362	ENSP00000420608:L629F;ENSP00000364345:L628F;ENSP00000364354:L607F|.	.|.	L|S	-|-	1|2	0|0	KIAA0090|KIAA0090	19430401|19430401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.114000|5.114000	0.64648|0.64648	1.105000|1.105000	0.41606|0.41606	0.462000|0.462000	0.41574|0.41574	CTC|TCT		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		4	256	0	0	0	1	0	4	256				
DTX1	1840	broad.mit.edu	37	12	113532726	113532726	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113532726G>C	ENST00000257600.3	+	6	1863	c.1360G>C	c.(1360-1362)Gtg>Ctg	p.V454L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	454					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTGTGCCTCGTGGCCATGTA	0.657																																						uc001tuk.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1360-1362)Gtg>Ctg		Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.							51.0	42.0	45.0					12																	113532726		2203	4300	6503	SO:0001583	missense	1840				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532726G>C	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1360G>C	12.37:g.113532726G>C	ENSP00000257600:p.Val454Leu						p.V454L	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			5	1696	+			454					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1360G>C	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	5.364	0.252388	0.10185	.	.	ENSG00000135144	ENST00000257600	T	0.39592	1.07	4.14	4.14	0.48551	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.141030	0.46758	D	0.000270	T	0.24547	0.0595	N	0.16166	0.38	0.39199	D	0.963117	B	0.16802	0.019	B	0.24155	0.051	T	0.10613	-1.0622	10	0.02654	T	1	-12.4377	15.2059	0.73177	0.0:0.0:1.0:0.0	.	454	Q86Y01	DTX1_HUMAN	L	454	ENSP00000257600:V454L	ENSP00000257600:V454L	V	+	1	0	DTX1	112017109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.147000	0.50639	1.852000	0.53769	0.456000	0.33151	GTG		0.657	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			49	94	0	0	0	1	0	49	94				
RASAL1	8437	broad.mit.edu	37	12	113541981	113541981	+	Silent	SNP	G	G	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113541981G>A	ENST00000261729.5	-	18	2265	c.1950C>T	c.(1948-1950)acC>acT	p.T650T	RASAL1_ENST00000446861.3_Silent_p.T622T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Silent_p.T652T|RASAL1_ENST00000548055.1_Silent_p.T651T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	650	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ACTGGAGGTAGGTGGTGTGCA	0.697																																						uc001tun.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1954-1956)acC>acT		Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.							30.0	28.0	29.0					12																	113541981		2203	4298	6501	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding	g.chr12:113541981G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1950C>T	12.37:g.113541981G>A						RASAL1_uc010syp.2_Silent_p.T651T|RASAL1_uc001tul.3_Silent_p.T622T|RASAL1_uc001tum.2_Silent_p.T650T|RASAL1_uc010syq.2_Silent_p.T651T|RASAL1_uc001tuo.4_Silent_p.T651T	p.T652T	NM_001193520	NP_001180449	O95294	RASL1_HUMAN			17	2257	-			650			PH.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.1956C>T	CCDS9165.1																																																																																				0.697	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		8	33	0	0	0	1	0	8	33				
SLC4A2	6522	broad.mit.edu	37	7	150773217	150773217	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:150773217G>A	ENST00000485713.1	+	22	4629	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1197M|FASTK_ENST00000489884.1_5'Flank|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1188M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1115M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1183M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1197	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCCTCACAGTGCCGCTCCG	0.637																																						uc022apz.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(3589-3591)Gtg>Atg		Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.							124.0	119.0	121.0					7																	150773217		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150773217G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3589G>A	7.37:g.150773217G>A	ENSP00000419412:p.Val1197Met					SLC4A2_uc003wit.4_Missense_Mutation_p.V1197M|SLC4A2_uc011kve.2_Missense_Mutation_p.V1188M|SLC4A2_uc003wiu.4_Missense_Mutation_p.V1183M|AK296065_uc011kvf.2_Silent_p.H76H	p.V1197M	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	21	4629	+			1197			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.3589G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980505	0.74474	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.5	4.61	0.57282	.	0.088825	0.47852	D	0.000214	D	0.83903	0.5355	M	0.86343	2.81	0.58432	D	0.99999	P;D;D	0.60160	0.847;0.987;0.977	P;P;P	0.56163	0.73;0.793;0.626	D	0.86550	0.1834	10	0.72032	D	0.01	.	12.4779	0.55825	0.0811:0.0:0.9189:0.0	.	1188;1183;1197	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	M	1197;1197;1115;1188;1183	ENSP00000419412:V1197M;ENSP00000405600:V1197M;ENSP00000311402:V1115M;ENSP00000376571:V1188M;ENSP00000419164:V1183M	ENSP00000311402:V1115M	V	+	1	0	SLC4A2	150404150	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.839000	0.62810	2.594000	0.87642	0.655000	0.94253	GTG		0.637	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		4	318	0	0	0	1	0	4	318				
LOC642929	642929	broad.mit.edu	37	9	43140785	43140785	+	lincRNA	DEL	A	A	-			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr9:43140785delA	ENST00000453939.1	-	0	133					NR_027472.1																						GGCAGAGTGGAAACTGCAACT	0.468																																						uc004acy.4																			0													Homo sapiens general transcription factor II, i pseudogene (LOC642929), non-coding RNA.																																						642929							g.chr9:43140785delA																													9.37:g.43140785delA														4		-									RNA	DEL	ENST00000453939.1	37	c.737delT																																																																																					0.468	RP11-327I22.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037045.1			2	4						2	4	---	---	---	---
