#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
AOX1	316	broad.mit.edu	37	2	201467063	201467063	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr2:201467063T>C	ENST00000374700.2	+	6	734	c.493T>C	c.(493-495)Tgt>Cgt	p.C165R		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	165					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAAGACTTTCTGTAAAGTAAG	0.448																																						uc002uvx.3																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(493-495)Tgt>Cgt		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						192.0	174.0	180.0					2																	201467063		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	g.chr2:201467063T>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.493T>C	2.37:g.201467063T>C	ENSP00000363832:p.Cys165Arg		Somatic					p.C165R	NM_001159	NP_001150	WXS	Illumina GAIIx	Phase_I	Q06278	ADO_HUMAN			5	594	+			165					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.493T>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547602	0.65311	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.53640	0.61;0.61	5.65	5.65	0.86999	[2Fe-2S]-binding (2);	0.049569	0.85682	D	0.000000	T	0.67468	0.2896	M	0.87547	2.89	0.80722	D	1	D	0.54601	0.967	P	0.54460	0.753	T	0.74500	-0.3645	10	0.72032	D	0.01	-15.5629	16.0399	0.80667	0.0:0.0:0.0:1.0	.	165	Q06278	ADO_HUMAN	R	165;140	ENSP00000363832:C165R;ENSP00000392485:C140R	ENSP00000363832:C165R	C	+	1	0	AOX1	201175308	1.000000	0.71417	0.991000	0.47740	0.433000	0.31745	5.488000	0.66869	2.371000	0.80710	0.533000	0.62120	TGT		0.448	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		26	67	0	0	0	1	0	26	67				
LRP1	4035	broad.mit.edu	37	12	57581169	57581169	+	Missense_Mutation	SNP	G	G	A	rs367854676		TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr12:57581169G>A	ENST00000243077.3	+	42	7427	c.6961G>A	c.(6961-6963)Gag>Aag	p.E2321K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2321					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGGGCCTTCGAGCGTGAGAC	0.607																																						uc001snd.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6961-6963)Gag>Aag		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	G	LYS/GLU	0,4406		0,0,2203	84.0	76.0	78.0		6961	4.4	1.0	12		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2321/4545	57581169	1,13005	2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581169G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6961G>A	12.37:g.57581169G>A	ENSP00000243077:p.Glu2321Lys		Somatic					p.E2321K	NM_002332	NP_002323	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	7427	+			2321					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6961G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453874	0.43531	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.90788	-2.73	4.39	4.39	0.52855	Six-bladed beta-propeller, TolB-like (1);	0.155040	0.40818	N	0.001014	D	0.82449	0.5039	L	0.32530	0.975	0.80722	D	1	P	0.36733	0.567	B	0.22753	0.041	T	0.81647	-0.0838	10	0.20046	T	0.44	.	16.2444	0.82434	0.0:0.0:1.0:0.0	.	2321	Q07954	LRP1_HUMAN	K	2321	ENSP00000243077:E2321K	ENSP00000243077:E2321K	E	+	1	0	LRP1	55867436	1.000000	0.71417	0.966000	0.40874	0.905000	0.53344	3.941000	0.56607	2.433000	0.82419	0.655000	0.94253	GAG		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	44	0	0	0	1	0	3	44				
SGPL1	8879	broad.mit.edu	37	10	72633169	72633169	+	Missense_Mutation	SNP	A	A	G	rs139751906	byFrequency	TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr10:72633169A>G	ENST00000373202.3	+	12	1321	c.1121A>G	c.(1120-1122)tAt>tGt	p.Y374C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	374					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TACAGGAACTATCAGTTCTTC	0.502																																					Colon(151;1054 2458 6676 40971)	uc001jrm.3																			0				large_intestine(4)	4						c.(1120-1122)tAt>tGt		Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.	Pyridoxal Phosphate(DB00114)	A	CYS/TYR	0,4406		0,0,2203	154.0	132.0	140.0		1121	4.6	0.7	10	dbSNP_134	140	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SGPL1	NM_003901.3	194	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	possibly-damaging	374/569	72633169	4,13002	2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72633169A>G	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1121A>G	10.37:g.72633169A>G	ENSP00000362298:p.Tyr374Cys		Somatic				SGPL1_uc009xqk.3_Non-coding_Transcript	p.Y374C	NM_003901	NP_003892	WXS	Illumina GAIIx	Phase_I	O95470	SGPL1_HUMAN			11	1343	+			374					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.1121A>G	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204986	0.79127	0.0	4.65E-4	ENSG00000166224	ENST00000373202	T	0.37235	1.21	5.73	4.58	0.56647	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.053210	0.85682	D	0.000000	T	0.42966	0.1226	M	0.71581	2.175	0.58432	D	0.999996	B	0.22683	0.073	B	0.34536	0.185	T	0.30031	-0.9992	10	0.41790	T	0.15	-6.6712	12.1512	0.54051	0.8715:0.0:0.0:0.1284	.	374	O95470	SGPL1_HUMAN	C	374	ENSP00000362298:Y374C	ENSP00000362298:Y374C	Y	+	2	0	SGPL1	72303175	1.000000	0.71417	0.729000	0.30791	0.994000	0.84299	5.003000	0.63959	0.962000	0.38057	0.533000	0.62120	TAT		0.502	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		5	136	0	0	0	1	0	5	136				
MUSK	4593	broad.mit.edu	37	9	113563207	113563207	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:113563207C>G	ENST00000374448.4	+	15	2683	c.2549C>G	c.(2548-2550)aCc>aGc	p.T850S	MUSK_ENST00000416899.2_Missense_Mutation_p.T842S|MUSK_ENST00000189978.5_Missense_Mutation_p.T850S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	850	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCCAGTTTCACCAGTATTCAC	0.507																																						uc022blv.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(2548-2550)aCc>aGc		Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.							40.0	38.0	39.0					9																	113563207		2023	4190	6213	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113563207C>G	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2549C>G	9.37:g.113563207C>G	ENSP00000363571:p.Thr850Ser		Somatic				MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.T761S|MUSK_uc022blu.1_Missense_Mutation_p.T751S	p.T850S	NM_005592	NP_005583	WXS	Illumina GAIIx	Phase_I	O15146	MUSK_HUMAN			14	2683	+			850			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2549C>G	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	6.627	0.484152	0.12581	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D	0.81739	-1.53	5.62	3.73	0.42828	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.815827	0.11846	N	0.523771	T	0.55561	0.1928	N	0.01417	-0.88	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45934	-0.9227	10	0.08381	T	0.77	.	15.4013	0.74843	0.0:0.7268:0.2732:0.0	.	850	O15146	MUSK_HUMAN	S	856;850;850;764;764;848	ENSP00000363571:T850S	ENSP00000189978:T856S	T	+	2	0	MUSK	112603028	0.987000	0.35691	0.402000	0.26371	0.953000	0.61014	4.226000	0.58606	0.803000	0.34113	0.557000	0.71058	ACC		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	26	0	0	0	1	0	8	26				
OR14C36	127066	broad.mit.edu	37	1	248512212	248512212	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr1:248512212G>A	ENST00000317861.1	+	1	136	c.136G>A	c.(136-138)Gtc>Atc	p.V46I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CATTGTGACCGTCACCACCTG	0.438																																						uc010pzl.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(136-138)Gtc>Atc		Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.							254.0	220.0	232.0					1																	248512212		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512212G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.136G>A	1.37:g.248512212G>A	ENSP00000324534:p.Val46Ile		Somatic					p.V46I	NM_001001918	NP_001001918	WXS	Illumina GAIIx	Phase_I	Q8NHC7	O14CZ_HUMAN			0	136	+			46					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.136G>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593320	0.13875	.	.	ENSG00000177174	ENST00000317861	T	0.03035	4.07	4.05	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.416770	0.17250	N	0.181220	T	0.01489	0.0048	N	0.16066	0.365	0.09310	N	1	P	0.40266	0.71	B	0.28385	0.089	T	0.32402	-0.9908	10	0.02654	T	1	.	6.5902	0.22642	0.0943:0.0:0.7279:0.1779	.	46	Q8NHC7	O14CZ_HUMAN	I	46	ENSP00000324534:V46I	ENSP00000324534:V46I	V	+	1	0	OR14C36	246578835	0.000000	0.05858	0.012000	0.15200	0.344000	0.29017	-1.205000	0.03014	0.945000	0.37605	0.395000	0.25975	GTC		0.438	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		11	131	0	0	0	1	0	11	131				
MEGF11	84465	broad.mit.edu	37	15	66207904	66207904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr15:66207904G>A	ENST00000409699.2	-	19	2549	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*	MEGF11_ENST00000422354.1_Nonsense_Mutation_p.Q793*|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Silent_p.V869V|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.Q718*|MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.Q718*			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	793	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CATAGCTGCTGACACCCATAG	0.537																																						uc002apm.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2377-2379)Cag>Tag		Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.							162.0	102.0	122.0					15																	66207904		2201	4299	6500	SO:0001587	stop_gained	84465					basolateral plasma membrane|integral to membrane		g.chr15:66207904G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2377C>T	15.37:g.66207904G>A	ENSP00000386908:p.Gln793*		Somatic				MEGF11_uc002apl.2_Nonsense_Mutation_p.Q718*|MEGF11_uc002apn.1_Nonsense_Mutation_p.Q793*	p.Q793*	NM_032445	NP_115821	WXS	Illumina GAIIx	Phase_I	A6BM72	MEG11_HUMAN			18	2518	-			793			EGF-like 14.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Nonsense_Mutation	SNP	ENST00000409699.2	37	c.2377C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	42	9.208064	0.99101	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	.	.	.	4.48	4.48	0.54585	.	0.186077	0.25807	U	0.028175	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	13.3803	0.60762	0.0:0.0:0.8322:0.1678	.	.	.	.	X	793;718;793;718	.	ENSP00000288745:Q718X	Q	-	1	0	MEGF11	63994958	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.090000	0.71397	2.309000	0.77851	0.561000	0.74099	CAG		0.537	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		5	24	0	0	0	1	0	5	24				
FAM129B	64855	broad.mit.edu	37	9	130279165	130279165	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:130279165G>A	ENST00000373312.3	-	8	1157	c.944C>T	c.(943-945)tCc>tTc	p.S315F	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.S302F	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	315					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTCCTTGGAGGTGATAAT	0.597																																						uc004brh.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(943-945)tCc>tTc		Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.							216.0	205.0	209.0					9																	130279165		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130279165G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.944C>T	9.37:g.130279165G>A	ENSP00000362409:p.Ser315Phe		Somatic				FAM129B_uc004bri.3_Missense_Mutation_p.S302F|FAM129B_uc004brj.4_Missense_Mutation_p.S315F	p.S315F	NM_022833	NP_073744	WXS	Illumina GAIIx	Phase_I	Q96TA1	NIBL1_HUMAN			7	1146	-			315					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.944C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833079	0.71258	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.28895	1.59;1.59	4.87	3.97	0.46021	.	0.180266	0.50627	D	0.000110	T	0.49695	0.1572	M	0.73962	2.25	0.36995	D	0.894964	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.55730	-0.8095	10	0.44086	T	0.13	-43.2424	7.0794	0.25223	0.094:0.1732:0.7328:0.0	.	302;315	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	F	302;315	ENSP00000362411:S302F;ENSP00000362409:S315F	ENSP00000362409:S315F	S	-	2	0	FAM129B	129318986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.172000	0.77604	1.045000	0.40225	0.655000	0.94253	TCC		0.597	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		78	286	0	0	0	1	0	78	286				
HFM1	164045	broad.mit.edu	37	1	91733329	91733329	+	Missense_Mutation	SNP	T	T	C	rs538274561	byFrequency	TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr1:91733329T>C	ENST00000370425.3	-	35	3954	c.3856A>G	c.(3856-3858)Act>Gct	p.T1286A	HFM1_ENST00000370424.3_Missense_Mutation_p.T965A|HFM1_ENST00000294696.5_Missense_Mutation_p.T518A|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1286					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAGTATCAGTTGAAAAGCTA	0.303																																						uc001doa.4																			0		p.S1285L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3856-3858)Act>Gct		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							88.0	91.0	90.0					1																	91733329		2203	4292	6495	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91733329T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3856A>G	1.37:g.91733329T>C	ENSP00000359454:p.Thr1286Ala		Somatic				HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.T965A|HFM1_uc001dob.4_Missense_Mutation_p.T474A|HFM1_uc010osv.1_Missense_Mutation_p.T970A	p.T1286A	NM_001017975	NP_001017975	WXS	Illumina GAIIx	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	34	3955	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1286					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3856A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	0.568	-0.842270	0.02671	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424	T;T;T	0.63580	0.35;0.71;-0.05	5.09	-7.74	0.01241	.	0.970645	0.08416	N	0.949133	T	0.04003	0.0112	N	0.00483	-1.445	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.08806	-1.0704	10	0.02654	T	1	.	1.4872	0.02449	0.2046:0.2885:0.1012:0.4056	.	965;497;1286	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	A	1286;518;965	ENSP00000359454:T1286A;ENSP00000294696:T518A;ENSP00000359453:T965A	ENSP00000294696:T518A	T	-	1	0	HFM1	91505917	0.000000	0.05858	0.032000	0.17829	0.973000	0.67179	-0.951000	0.03885	-1.380000	0.02115	-0.323000	0.08544	ACT		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		3	36	0	0	0	1	0	3	36				
BECN1	8678	broad.mit.edu	37	17	40967972	40967972	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:40967972C>A	ENST00000361523.4	-	8	916	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	BECN1_ENST00000590099.1_Missense_Mutation_p.D262Y|BECN1_ENST00000438274.3_Missense_Mutation_p.D186Y	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	262					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTCAGCTTATCCAGCTGCGTC	0.458																																						uc002ibo.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(784-786)Gat>Tat		Homo sapiens beclin 1, autophagy related (BECN1), mRNA.							255.0	217.0	230.0					17																	40967972		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40967972C>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.784G>T	17.37:g.40967972C>A	ENSP00000355231:p.Asp262Tyr		Somatic				BECN1_uc010whb.1_Missense_Mutation_p.D175Y|BECN1_uc010whc.1_Missense_Mutation_p.D186Y|BECN1_uc002ibn.2_Missense_Mutation_p.D262Y	p.D262Y	NM_003766	NP_003757	WXS	Illumina GAIIx	Phase_I	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	7	919	-		Breast(137;0.00104)	262					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.784G>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958155	0.92726	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.50548	0.74;2.43	5.95	5.95	0.96441	.	0.109071	0.64402	D	0.000005	T	0.74913	0.3779	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.972;0.99	T	0.76602	-0.2899	10	0.56958	D	0.05	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	186;262	E7EV84;Q14457	.;BECN1_HUMAN	Y	262;186;175	ENSP00000355231:D262Y;ENSP00000416173:D186Y	ENSP00000355231:D262Y	D	-	1	0	BECN1	38221498	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.390000	0.79816	2.824000	0.97209	0.655000	0.94253	GAT		0.458	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		8	168	0	0	0	1	0	8	168				
AMPD3	272	broad.mit.edu	37	11	10518462	10518462	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr11:10518462G>A	ENST00000396554.3	+	10	1902	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	AMPD3_ENST00000444303.2_Missense_Mutation_p.E353K	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	512					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGATCATCGAGAGCTTCACCT	0.512																																						uc001min.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1561-1563)Gag>Aag		Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.							153.0	140.0	144.0					11																	10518462		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10518462G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1561G>A	11.37:g.10518462G>A	ENSP00000379802:p.Glu521Lys		Somatic				AMPD3_uc010rbz.1_Missense_Mutation_p.E353K|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.E512K|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.E519K|AMPD3_uc009yfy.2_Missense_Mutation_p.E512K	p.E521K	NM_000480	NP_001165902	WXS	Illumina GAIIx	Phase_I	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	9	1906	+			512					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1561G>A	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027440	0.35797	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	4.56	4.56	0.56223	Adenosine/AMP deaminase (1);	0.161278	0.53938	D	0.000051	T	0.74168	0.3681	L	0.41632	1.29	0.58432	D	0.999998	B;B;B	0.27068	0.167;0.09;0.167	B;B;B	0.30716	0.119;0.095;0.119	T	0.69522	-0.5123	10	0.13853	T	0.58	-21.9048	17.3255	0.87245	0.0:0.0:1.0:0.0	.	519;512;521	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	K	353;521;512;519;512	ENSP00000396000:E353K;ENSP00000379802:E521K;ENSP00000379801:E512K;ENSP00000436987:E519K;ENSP00000431648:E512K	ENSP00000379801:E512K	E	+	1	0	AMPD3	10475038	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.655000	0.67981	2.095000	0.63458	0.289000	0.19496	GAG		0.512	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		7	159	0	0	0	1	0	7	159				
GSTA2	2939	broad.mit.edu	37	6	52616490	52616490	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr6:52616490C>T	ENST00000493422.1	-	6	586	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	144	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GTAGTCTTGTCCGTGGCTCTT	0.537																																						uc003pay.3																			0		p.G144R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(430-432)gGa>gAa		Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						138.0	122.0	127.0					6																	52616490		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616490C>T	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.431G>A	6.37:g.52616490C>T	ENSP00000420168:p.Gly144Glu		Somatic					p.G144E	NM_000846	NP_000837	WXS	Illumina GAIIx	Phase_I	P09210	GSTA2_HUMAN			5	581	-	Lung NSC(77;0.118)		144			GST C-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.431G>A	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.080068	0.36662	.	.	ENSG00000244067	ENST00000493422	T	0.13657	2.57	2.88	2.88	0.33553	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.146928	0.44097	N	0.000493	T	0.12475	0.0303	M	0.80332	2.49	0.31349	N	0.682737	B	0.23854	0.092	B	0.36418	0.224	T	0.06180	-1.0841	10	0.66056	D	0.02	.	11.5816	0.50894	0.0:1.0:0.0:0.0	.	144	P09210	GSTA2_HUMAN	E	144	ENSP00000420168:G144E	ENSP00000420168:G144E	G	-	2	0	GSTA2	52724449	0.795000	0.28851	0.977000	0.42913	0.690000	0.40134	3.957000	0.56730	1.629000	0.50426	0.485000	0.47835	GGA		0.537	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		23	115	0	0	0	1	0	23	115				
ADCY9	115	broad.mit.edu	37	16	4164528	4164528	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr16:4164528A>C	ENST00000294016.3	-	2	1454	c.916T>G	c.(916-918)Tcc>Gcc	p.S306A		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	306					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGCTCCTGGACCTCACCTGG	0.612																																						uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(916-918)Tcc>Gcc		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							86.0	83.0	84.0					16																	4164528		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	g.chr16:4164528A>C	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.916T>G	16.37:g.4164528A>C	ENSP00000294016:p.Ser306Ala		Somatic					p.S306A	NM_001116	NP_001107	WXS	Illumina GAIIx	Phase_I	O60503	ADCY9_HUMAN			1	1455	-			306					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.916T>G	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412208	0.42817	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.57	5.57	0.84162	.	0.061325	0.64402	N	0.000002	D	0.88070	0.6338	M	0.68317	2.08	0.52501	D	0.999959	D	0.69078	0.997	P	0.62813	0.907	D	0.85306	0.1076	10	0.15066	T	0.55	.	15.7744	0.78198	1.0:0.0:0.0:0.0	.	306	O60503	ADCY9_HUMAN	A	306	ENSP00000294016:S306A	ENSP00000294016:S306A	S	-	1	0	ADCY9	4104529	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.144000	0.66660	0.454000	0.30748	TCC		0.612	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			14	84	0	0	0	1	0	14	84				
WNK2	65268	broad.mit.edu	37	9	96069101	96069101	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:96069101G>A	ENST00000297954.4	+	27	6368	c.6368G>A	c.(6367-6369)aGt>aAt	p.S2123N	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.S1698N|WNK2_ENST00000395477.2_Missense_Mutation_p.S2086N|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.S1735N	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2123					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAACACAGCAGTAGTAATTAT	0.567																																						uc004ati.1																			0		p.V2122A(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6367-6369)aGt>aAt		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							522.0	529.0	526.0					9																	96069101		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96069101G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6368G>A	9.37:g.96069101G>A	ENSP00000297954:p.Ser2123Asn		Somatic				WNK2_uc011lud.1_Missense_Mutation_p.S2086N|WNK2_uc004atj.3_Missense_Mutation_p.S2086N|WNK2_uc004atk.3_Intron	p.S2123N	NM_006648	NP_006639	WXS	Illumina GAIIx	Phase_I	Q9Y3S1	WNK2_HUMAN			26	6368	+			2123					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6368G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.555860|5.555860	0.96514|0.96514	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251	T;T;T;T|.	0.79653|.	-1.29;-1.28;-0.63;-0.58|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.217720|.	0.47852|.	D|.	0.000214|.	T|T	0.68220|0.68220	0.2977|0.2977	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.983;1.0;1.0|.	P;D;D|.	0.74023|.	0.846;0.982;0.96|.	T|T	0.63274|0.63274	-0.6674|-0.6674	10|5	0.62326|.	D|.	0.03|.	.|.	19.3931|19.3931	0.94592|0.94592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2086;2086;2123|.	Q9Y3S1-2;F8W9F9;Q9Y3S1|.	.;.;WNK2_HUMAN|.	N|I	2123;2086;1735;1698|2082;883	ENSP00000297954:S2123N;ENSP00000378860:S2086N;ENSP00000297876:S1735N;ENSP00000411181:S1698N|.	ENSP00000297954:S2123N|.	S|V	+|+	2|1	0|0	WNK2|WNK2	95108922|95108922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.619000|9.619000	0.98369|0.98369	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.567	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		7	200	0	0	0	1	0	7	200				
GPR173	54328	broad.mit.edu	37	X	53106066	53106066	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chrX:53106066C>T	ENST00000332582.4	+	2	754	c.263C>T	c.(262-264)tCa>tTa	p.S88L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	88					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CACGGCTCTTCATGGACCTTC	0.577																																						uc004dru.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						c.(262-264)tCa>tTa		Homo sapiens G protein-coupled receptor 173 (GPR173), mRNA.							120.0	99.0	106.0					X																	53106066		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106066C>T	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.263C>T	X.37:g.53106066C>T	ENSP00000331600:p.Ser88Leu		Somatic				GPR173_uc022bxc.1_Missense_Mutation_p.S88L	p.S88L	NM_018969	NP_061842	WXS	Illumina GAIIx	Phase_I	Q9NS66	GP173_HUMAN			1	521	+			88					B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.263C>T	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078395	0.36662	.	.	ENSG00000184194	ENST00000332582	T	0.72394	-0.65	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.065862	0.64402	D	0.000017	T	0.58395	0.2119	L	0.34521	1.04	0.42929	D	0.994318	B	0.06786	0.001	B	0.10450	0.005	T	0.54503	-0.8284	10	0.22109	T	0.4	-5.0005	13.3442	0.60561	0.0:1.0:0.0:0.0	.	88	Q9NS66	GP173_HUMAN	L	88	ENSP00000331600:S88L	ENSP00000331600:S88L	S	+	2	0	GPR173	53122791	1.000000	0.71417	0.992000	0.48379	0.919000	0.55068	5.846000	0.69444	2.006000	0.58801	0.529000	0.55759	TCA		0.577	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		4	74	0	0	0	1	0	4	74				
OR11G2	390439	broad.mit.edu	37	14	20666455	20666455	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr14:20666455C>T	ENST00000357366.3	+	1	961	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		tgttgttaccccactgcttaa	0.398																																						uc010tlb.2																			0		p.P321Q(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(961-963)Cca>Tca		Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.							117.0	115.0	116.0					14																	20666455		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666455C>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.961C>T	14.37:g.20666455C>T	ENSP00000349930:p.Pro321Ser		Somatic					p.P321S	NM_001005503	NP_001005503	WXS	Illumina GAIIx	Phase_I	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	0	961	+	all_cancers(95;0.00108)		321					Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.961C>T	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.659499	0.67586	.	.	ENSG00000196832	ENST00000357366	T	0.00330	8.08	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000204	T	0.01287	0.0042	M	0.93328	3.405	0.36360	D	0.860638	D	0.89917	1.0	D	0.97110	1.0	T	0.50136	-0.8863	10	0.72032	D	0.01	.	17.1038	0.86656	0.0:1.0:0.0:0.0	.	321	Q8NGC1	O11G2_HUMAN	S	321	ENSP00000349930:P321S	ENSP00000349930:P321S	P	+	1	0	OR11G2	19736295	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	4.404000	0.59735	2.569000	0.86673	0.655000	0.94253	CCA		0.398	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			35	102	0	0	0	1	0	35	102				
MAP3K3	4215	broad.mit.edu	37	17	61759173	61759173	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:61759173G>A	ENST00000361733.3	+	7	870	c.550G>A	c.(550-552)Gag>Aag	p.E184K	MAP3K3_ENST00000361357.3_Missense_Mutation_p.E215K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.E184K	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	184					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTATGTTCCTGAGCGGCAGCA	0.602																																						uc002jbe.3																			0		p.L214L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(643-645)Gag>Aag		Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA.							93.0	89.0	90.0					17																	61759173		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61759173G>A	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.550G>A	17.37:g.61759173G>A	ENSP00000354485:p.Glu184Lys		Somatic				MAP3K3_uc002jbf.3_Missense_Mutation_p.E215K|MAP3K3_uc002jbg.3_Missense_Mutation_p.E184K|MAP3K3_uc002jbh.3_Missense_Mutation_p.E215K|MAP3K3_uc010wpo.2_Missense_Mutation_p.E99K|MAP3K3_uc010wpp.2_Missense_Mutation_p.E184K	p.E215K	NM_203351	NP_976226	WXS	Illumina GAIIx	Phase_I	Q99759	M3K3_HUMAN			8	709	+			184					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.643G>A	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	36	5.866375	0.97043	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.69806	-0.43;-0.41	5.58	5.58	0.84498	.	0.048306	0.85682	D	0.000000	T	0.77644	0.4161	M	0.72894	2.215	0.80722	D	1	P;P;P;P	0.48911	0.864;0.864;0.864;0.917	P;P;P;P	0.52909	0.52;0.52;0.52;0.713	T	0.78565	-0.2155	10	0.59425	D	0.04	.	19.9439	0.97175	0.0:0.0:1.0:0.0	.	184;152;184;215	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	K	215;184	ENSP00000354927:E215K;ENSP00000354485:E184K	ENSP00000354927:E215K	E	+	1	0	MAP3K3	59112905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.772000	0.98984	2.797000	0.96272	0.561000	0.74099	GAG		0.602	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		14	110	0	0	0	1	0	14	110				
LGI1	9211	broad.mit.edu	37	10	95556981	95556981	+	Silent	SNP	C	C	T			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr10:95556981C>T	ENST00000371418.4	+	8	1355	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.N317N	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	365					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGAACGGAAACGGATTCTACT	0.408																																						uc001kjc.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1093-1095)aaC>aaT		Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.							88.0	83.0	85.0					10																	95556981		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95556981C>T	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1095C>T	10.37:g.95556981C>T			Somatic				LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Silent_p.N317N|LGI1_uc009xui.3_Non-coding_Transcript	p.N365N	NM_005097	NP_005088	WXS	Illumina GAIIx	Phase_I	O95970	LGI1_HUMAN			7	1431	+		Colorectal(252;0.124)	365					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.1095C>T	CCDS7431.1																																																																																				0.408	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		29	60	0	0	0	1	0	29	60				
RNF5P1	286140	broad.mit.edu	37	8	38458252	38458252	+	IGR	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr8:38458252G>A								RP11-675F6.4 (41714 upstream) : RP11-495O10.1 (99891 downstream)																							GCTGGAGGCCGGGTGACCCTG	0.532																																						uc003xly.3																			0											c.(466-468)cCg>cTg		Homo sapiens ring finger protein 5 pseudogene 1 (RNF5P1), non-coding RNA.																																				SO:0001628	intergenic_variant	286140							g.chr8:38458252G>A																													8.37:g.38458252G>A			Somatic					p.P156L			WXS	Illumina GAIIx	Phase_I					0	524	-									Missense_Mutation	SNP		37	c.467C>T																																																																																				0	0.532									9	159	0	0	0	1	0	9	159				
CASKIN2	57513	broad.mit.edu	37	17	73501926	73501926	+	Missense_Mutation	SNP	G	G	A	rs374893748		TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:73501926G>A	ENST00000321617.3	-	9	1397	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	CASKIN2_ENST00000581870.1_Missense_Mutation_p.R271W|CASKIN2_ENST00000433559.2_Missense_Mutation_p.R189W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	271						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGATTTCCCGGCTGGCCTGG	0.622																																						uc002joc.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(811-813)Cgg>Tgg		Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	89.0	78.0	82.0		565,811	4.5	1.0	17		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CASKIN2	NM_001142643.1,NM_020753.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	189/1121,271/1203	73501926	1,13005	2203	4300	6503	SO:0001583	missense	57513					cytoplasm		g.chr17:73501926G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.811C>T	17.37:g.73501926G>A	ENSP00000325355:p.Arg271Trp		Somatic				CASKIN2_uc010wsc.2_Missense_Mutation_p.R189W|CASKIN2_uc002jod.3_Missense_Mutation_p.R271W	p.R271W	NM_020753	NP_001136115	WXS	Illumina GAIIx	Phase_I	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1361	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		271					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.811C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638331	0.87760	0.0	1.16E-4	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.14391	2.51;2.51	5.53	4.54	0.55810	Ankyrin repeat-containing domain (2);	0.000000	0.42172	D	0.000756	T	0.21841	0.0526	L	0.27053	0.805	0.43317	D	0.995336	D;D	0.89917	0.994;1.0	P;D	0.63283	0.715;0.913	T	0.01635	-1.1307	10	0.72032	D	0.01	.	12.6739	0.56882	0.0:0.0:0.5454:0.4546	.	189;271	Q8WXE0-2;Q8WXE0	.;CSKI2_HUMAN	W	271;189	ENSP00000325355:R271W;ENSP00000406963:R189W	ENSP00000325355:R271W	R	-	1	2	CASKIN2	71013521	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.655000	0.61476	1.291000	0.44653	0.655000	0.94253	CGG		0.622	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		3	37	0	0	0	1	0	3	37				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	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		20	67	0	0	0	1	0	20	67				
KCNK6	9424	broad.mit.edu	37	19	38810844	38810844	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr19:38810844A>G	ENST00000263372.3	+	1	361	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	85					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGGTCCGCCAACGCCTCGGAC	0.706																																						uc002oic.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(253-255)aAc>aGc		Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	Ibutilide(DB00308)|Quinidine(DB00908)						19.0	23.0	22.0					19																	38810844		2199	4298	6497	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38810844A>G	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.254A>G	19.37:g.38810844A>G	ENSP00000263372:p.Asn85Ser		Somatic					p.N85S	NM_004823	NP_004814	WXS	Illumina GAIIx	Phase_I	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		0	361	+	all_cancers(60;5.83e-07)		85					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.254A>G	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874261	0.72180	.	.	ENSG00000099337	ENST00000263372	T	0.23950	1.88	4.57	3.49	0.39957	.	0.656803	0.14927	N	0.290281	T	0.30198	0.0757	L	0.46157	1.445	0.31297	N	0.688711	P	0.50272	0.933	P	0.53102	0.718	T	0.10894	-1.0610	10	0.25751	T	0.34	.	7.3862	0.26884	0.8858:0.0:0.1142:0.0	.	85	Q9Y257	KCNK6_HUMAN	S	85	ENSP00000263372:N85S	ENSP00000263372:N85S	N	+	2	0	KCNK6	43502684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.116000	0.50399	1.938000	0.56188	0.454000	0.30748	AAC		0.706	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		4	29	0	0	0	1	0	4	29				
ARHGEF4	50649	broad.mit.edu	37	2	131704157	131704157	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr2:131704157G>A	ENST00000326016.5	+	4	895	c.376G>A	c.(376-378)Gct>Act	p.A126T	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A126T|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.A126T|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A126T|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A126T|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.A982T	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	126	ABR (APC-binding region) domain.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTCCCAGAGTGCTCCAACGGG	0.532																																						uc010fmw.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(2314-2316)Gct>Act		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.							116.0	115.0	115.0					2																	131704157		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding	g.chr2:131704157G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.376G>A	2.37:g.131704157G>A	ENSP00000316845:p.Ala126Thr		Somatic				ARHGEF4_uc002tsa.1_Missense_Mutation_p.A126T|ARHGEF4_uc002tsb.1_Missense_Mutation_p.A126T|ARHGEF4_uc010fmx.1_Missense_Mutation_p.A126T|ARHGEF4_uc002trz.1_Missense_Mutation_p.A772T	p.A772T			WXS	Illumina GAIIx	Phase_I	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	2	2668	+		Prostate(154;0.055)	126					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.2314G>A	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	3.397	-0.123032	0.06795	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.73047	0.42;-0.52;-0.67;0.61;0.61;-0.67;-0.71	4.49	3.6	0.41247	.	0.420409	0.16203	N	0.224821	T	0.64159	0.2573	L	0.29908	0.895	0.31264	N	0.692569	B;P;B;B	0.50943	0.001;0.94;0.035;0.004	B;P;B;B	0.56434	0.006;0.798;0.009;0.006	T	0.59836	-0.7379	10	0.02654	T	1	.	8.437	0.32793	0.1071:0.0:0.8929:0.0	.	126;982;126;126	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	T	982;126;126;306;126;126;126	ENSP00000386794:A982T;ENSP00000316845:A126T;ENSP00000376680:A126T;ENSP00000389661:A306T;ENSP00000398455:A126T;ENSP00000432267:A126T;ENSP00000387285:A126T	ENSP00000316845:A126T	A	+	1	0	ARHGEF4	131420627	0.992000	0.36948	0.997000	0.53966	0.161000	0.22273	1.254000	0.32897	1.241000	0.43820	0.655000	0.94253	GCT		0.532	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			6	120	0	0	0	1	0	6	120				
LMTK3	114783	broad.mit.edu	37	19	49001922	49001922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr19:49001922delA	ENST00000600059.1	-	11	2631	c.2404delT	c.(2404-2406)tccfs	p.S802fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.S831fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	802	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCTCTGGGGAAAAAGGGGTC	0.766																																						uc002pjk.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(2491-2493)tccfs		Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.							2.0	2.0	2.0					19																	49001922		950	2390	3340	SO:0001589	frameshift_variant	114783							g.chr19:49001922delA	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2404delT	19.37:g.49001922delA	ENSP00000472020:p.Ser802fs		Somatic					p.S831fs	NM_001080434	NP_001073903	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	2491	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.2491delT																																																																																					0.766	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4						2	4	---	---	---	---
