#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
PLXNA3	55558	broad.mit.edu	37	X	153698460	153698460	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chrX:153698460G>A	ENST00000369682.3	+	29	5111	c.4936G>A	c.(4936-4938)Ggc>Agc	p.G1646S	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1646					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGGACCGTGGCAGCAAGAT	0.627																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(4936-4938)Ggc>Agc		plexin A3							68.0	57.0	61.0					X																	153698460		2203	4299	6502	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698460G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4936G>A	X.37:g.153698460G>A	ENSP00000358696:p.Gly1646Ser					PLXNA3_ENST00000493546.1_3'UTR	p.G1646S	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			29	5111	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1646					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4936G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385425	0.95967	.	.	ENSG00000130827	ENST00000369682	T	0.10860	2.83	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.18650	-1.0330	10	0.52906	T	0.07	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	1646	P51805	PLXA3_HUMAN	S	1646	ENSP00000358696:G1646S	ENSP00000358696:G1646S	G	+	1	0	PLXNA3	153351654	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	9.860000	0.99555	2.072000	0.62099	0.529000	0.55759	GGC		0.627	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		7	67	0	0	0	1	0	7	67				
VCP	7415	broad.mit.edu	37	9	35061662	35061662	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr9:35061662A>G	ENST00000358901.6	-	10	2001	c.1106T>C	c.(1105-1107)aTt>aCt	p.I369T		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	369					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGAATTCCAATATCTACCTC	0.483																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1105-1107)aTt>aCt		valosin containing protein							249.0	219.0	229.0					9																	35061662		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35061662A>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1106T>C	9.37:g.35061662A>G	ENSP00000351777:p.Ile369Thr						p.I369T	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		10	2001	-			369					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1106T>C	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195522	0.78902	.	.	ENSG00000165280	ENST00000358901	D	0.95447	-3.71	5.93	5.93	0.95920	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	M	0.92077	3.27	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.99372	1.0920	10	0.87932	D	0	-9.4213	16.3943	0.83563	1.0:0.0:0.0:0.0	.	369	P55072	TERA_HUMAN	T	369	ENSP00000351777:I369T	ENSP00000351777:I369T	I	-	2	0	VCP	35051662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.281000	0.76405	0.533000	0.62120	ATT		0.483	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		17	128	0	0	0	1	0	17	128				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	60	0	0	0	1	0	4	60				
ALX3	257	broad.mit.edu	37	1	110607406	110607406	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr1:110607406G>A	ENST00000369792.4	-	2	484	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	133					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAGGAAGATGCAGGCTGGCC	0.632																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(397-399)Cat>Tat		ALX homeobox 3							68.0	76.0	73.0					1																	110607406		2203	4300	6503	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607406G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.397C>T	1.37:g.110607406G>A	ENSP00000358807:p.His133Tyr						p.H133Y	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	484	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	133					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.397C>T	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126801	0.20959	.	.	ENSG00000156150	ENST00000369792	D	0.95518	-3.73	3.51	2.54	0.30619	Homeodomain-like (1);	0.718005	0.11987	N	0.510254	T	0.80160	0.4572	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74103	-0.3773	10	0.62326	D	0.03	.	8.1581	0.31183	0.0:0.0:0.5651:0.4348	.	133	O95076	ALX3_HUMAN	Y	133	ENSP00000358807:H133Y	ENSP00000358807:H133Y	H	-	1	0	ALX3	110408929	0.002000	0.14202	0.938000	0.37757	0.870000	0.49936	0.612000	0.24283	0.733000	0.32492	0.462000	0.41574	CAT		0.632	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		26	51	0	0	0	1	0	26	51				
TSPAN32	10077	broad.mit.edu	37	11	2324041	2324041	+	Intron	SNP	A	A	G	rs2074022	byFrequency	TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr11:2324041A>G	ENST00000182290.4	+	2	203				C11orf21_ENST00000470369.1_5'Flank|C11orf21_ENST00000381153.3_5'Flank|TSPAN32_ENST00000381121.3_Intron|TSPAN32_ENST00000451520.2_Start_Codon_SNP_p.M1V|TSPAN32_ENST00000483227.1_Intron	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32						cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CAGCAGTCCCATGCCCCACAC	0.642													a|||	4045	0.807708	0.9584	0.8329	5008	,	,		16526	0.4058		0.9264	False		,,,				2504	0.8783					ENST00000451520.2																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(1-3)Atg>Gtg		tetraspanin 32				4218,184	791.3+/-415.1	2023,172,6	60.0	48.0	52.0			-5.6	0.0	11	dbSNP_96	52	7970,624	773.6+/-407.7	3690,590,17	no	intron	TSPAN32	NM_139022.2		5713,762,23	GG,GA,AA		7.2609,4.1799,6.2173			2324041	12188,808	2201	4297	6498	SO:0001627	intron_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2324041A>G	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.67-33A>G	11.37:g.2324041A>G						TSPAN32_ENST00000182290.4_Intron|TSPAN32_ENST00000483227.1_Intron|TSPAN32_ENST00000381121.3_Intron	p.M1V			Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	1	89	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	0					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Translation_Start_Site	SNP	ENST00000182290.4	37	c.1A>G	CCDS7733.1	1723	0.7889194139194139	476	0.967479674796748	306	0.8453038674033149	238	0.4160839160839161	703	0.9274406332453826	a	4.967	0.179660	0.09443	0.958201	0.927391	ENSG00000064201	ENST00000451520	T	0.42131	0.98	3.25	-5.6	0.02497	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.28522	-1.0041	5	0.87932	D	0	.	1.9392	0.03343	0.4551:0.1154:0.2871:0.1424	rs2074022;rs60929260;rs2074022	.	.	.	V	1	ENSP00000405205:M1V	ENSP00000343285:M1V	M	+	1	0	TSPAN32	2280617	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.012000	0.03649	-1.739000	0.01347	-1.921000	0.00515	ATG		0.642	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		3	20	0	0	0	1	0	3	20				
PRDM7	11105	broad.mit.edu	37	16	90160948	90160948	+	5'Flank	SNP	G	G	A	rs8049119	byFrequency	TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr16:90160948G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGGCAGGTACGTGCCTCGCGC	0.711																																						ENST00000564451.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90160948G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160948G>A	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	894	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.711	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			3	32	0	0	0	1	0	3	32				
LRRC37A11P	342666	broad.mit.edu	37	17	37188240	37188240	+	RNA	SNP	C	C	T	rs34700711	byFrequency	TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr17:37188240C>T	ENST00000425901.2	+	0	2082					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		ACAGTTCAACCTCTGGACCTG	0.512													C|||	1269	0.253395	0.0212	0.438	5008	,	,		22408	0.3294		0.2932	False		,,,				2504	0.317					ENST00000425901.2																			0																																																			0							g.chr17:37188240C>T			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188240C>T								NR_033753.2						0	2082	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.512	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		5	83	0	0	0	1	0	5	83				
RNF157	114804	broad.mit.edu	37	17	74154479	74154479	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr17:74154479C>T	ENST00000269391.6	-	13	1540	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	RNF157_ENST00000319945.6_Missense_Mutation_p.G470R	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	470	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ATTACCTCTCCGAGATGCTGA	0.532																																					GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(1408-1410)Gga>Aga		ring finger protein 157							129.0	113.0	119.0					17																	74154479		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74154479C>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1408G>A	17.37:g.74154479C>T	ENSP00000269391:p.Gly470Arg					RNF157_ENST00000319945.6_Missense_Mutation_p.G470R	p.G470R	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		13	1540	-			470			Ser-rich.		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1408G>A	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397227	0.25205	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.21932	1.98;1.98	5.7	-0.731	0.11151	.	0.970819	0.08522	N	0.933309	T	0.11836	0.0288	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.39981	-0.9587	10	0.16896	T	0.51	-13.6572	6.4821	0.22069	0.0:0.552:0.1272:0.3208	.	470;470	Q96PX1-2;Q96PX1	.;RN157_HUMAN	R	470	ENSP00000269391:G470R;ENSP00000321837:G470R	ENSP00000269391:G470R	G	-	1	0	RNF157	71666074	0.000000	0.05858	0.001000	0.08648	0.324000	0.28378	0.154000	0.16343	-0.319000	0.08652	-0.140000	0.14226	GGA		0.532	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		5	103	0	0	0	1	0	5	103				
LIMS1	3987	broad.mit.edu	37	2	109292399	109292399	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr2:109292399A>G	ENST00000393310.1	+	6	727	c.560A>G	c.(559-561)aAa>aGa	p.K187R	LIMS1_ENST00000338045.3_Missense_Mutation_p.K187R|LIMS1_ENST00000542845.1_Missense_Mutation_p.K249R|LIMS1_ENST00000332345.6_Missense_Mutation_p.K187R|LIMS1_ENST00000409441.1_Missense_Mutation_p.K224R|LIMS1_ENST00000410093.1_Missense_Mutation_p.K191R|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000544547.1_Missense_Mutation_p.K199R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	187					cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TGCCATGATAAAATGGGGGTC	0.557																																						ENST00000393310.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						c.(559-561)aAa>aGa		LIM and senescent cell antigen-like domains 1							59.0	53.0	55.0					2																	109292399		2203	4300	6503	SO:0001583	missense	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109292399A>G		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.560A>G	2.37:g.109292399A>G	ENSP00000376987:p.Lys187Arg					LIMS1_ENST00000544547.1_Missense_Mutation_p.K199R|LIMS1_ENST00000409441.1_Missense_Mutation_p.K224R|LIMS1_ENST00000542845.1_Missense_Mutation_p.K249R|LIMS1_ENST00000410093.1_Missense_Mutation_p.K191R|LIMS1_ENST00000332345.6_Missense_Mutation_p.K187R|LIMS1_ENST00000338045.3_Missense_Mutation_p.K187R	p.K187R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN			6	727	+			187					B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	c.560A>G	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	a	17.57	3.423745	0.62733	.	.	ENSG00000169756	ENST00000544547;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845	D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.44	5.44	0.79542	Zinc finger, LIM-type (2);	0.000000	0.64402	D	0.000001	D	0.84070	0.5391	L	0.41236	1.265	0.80722	D	1	P;B;B;B	0.40282	0.711;0.055;0.055;0.055	B;B;B;B	0.42214	0.38;0.05;0.05;0.075	T	0.82975	-0.0190	10	0.31617	T	0.26	.	15.4866	0.75573	1.0:0.0:0.0:0.0	.	249;224;187;199	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	R	199;187;187;191;224;187;249	ENSP00000437912:K199R;ENSP00000331775:K187R;ENSP00000376987:K187R;ENSP00000386926:K191R;ENSP00000387264:K224R;ENSP00000337598:K187R;ENSP00000446121:K249R	ENSP00000331775:K187R	K	+	2	0	LIMS1	108658831	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	9.335000	0.96500	2.061000	0.61500	0.379000	0.24179	AAA		0.557	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		4	47	0	0	0	1	0	4	47				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		5	63	0	0	0	1	0	5	63				
KCNJ10	3766	broad.mit.edu	37	1	160011624	160011624	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr1:160011624C>G	ENST00000368089.3	-	2	925	c.699G>C	c.(697-699)caG>caC	p.Q233H	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	233					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TCACATTGACCTGGTTGAGCC	0.502																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(697-699)caG>caC		potassium inwardly-rectifying channel, subfamily J, member 10							133.0	128.0	130.0					1																	160011624		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011624C>G	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.699G>C	1.37:g.160011624C>G	ENSP00000357068:p.Gln233His					KCNJ10_ENST00000509700.1_5'UTR	p.Q233H	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	925	-	all_hematologic(112;0.093)		233					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.699G>C	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650849	0.47362	.	.	ENSG00000177807	ENST00000368089	D	0.95171	-3.63	5.44	1.47	0.22746	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94521	0.7727	10	0.54805	T	0.06	.	11.6977	0.51553	0.0:0.7154:0.0:0.2846	.	233	P78508	IRK10_HUMAN	H	233	ENSP00000357068:Q233H	ENSP00000357068:Q233H	Q	-	3	2	KCNJ10	158278248	0.933000	0.31639	1.000000	0.80357	0.982000	0.71751	0.391000	0.20784	0.156000	0.19299	-0.797000	0.03246	CAG		0.502	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		23	75	0	0	0	1	0	23	75				
CUL4B	8450	broad.mit.edu	37	X	119660702	119660702	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chrX:119660702G>T	ENST00000404115.3	-	22	3057	c.2656C>A	c.(2656-2658)Ctt>Att	p.L886I	CUL4B_ENST00000371322.5_Missense_Mutation_p.L868I|CUL4B_ENST00000336592.6_Missense_Mutation_p.L873I	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	886					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTTCTTAAGATCAGCAGGC	0.358																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2602-2604)Ctt>Att		cullin 4B							158.0	136.0	143.0					X																	119660702		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119660702G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2656C>A	X.37:g.119660702G>T	ENSP00000384109:p.Leu886Ile					CUL4B_ENST00000336592.6_Missense_Mutation_p.L873I|CUL4B_ENST00000404115.3_Missense_Mutation_p.L886I	p.L868I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			20	2663	-			886					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2602C>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121725	0.37436	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.55234	0.54;0.54;0.53	5.54	3.78	0.43462	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	N	0.02721	-0.515	0.80722	D	1	B;P;P	0.44344	0.002;0.833;0.8	B;D;P	0.64144	0.048;0.922;0.873	T	0.39187	-0.9626	9	.	.	.	-7.879	10.6397	0.45586	0.1585:0.0:0.8415:0.0	.	690;886;868	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	I	868;873;886	ENSP00000360373:L868I;ENSP00000338919:L873I;ENSP00000384109:L886I	.	L	-	1	0	CUL4B	119544730	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	3.594000	0.54008	0.520000	0.28426	-0.215000	0.12644	CTT		0.358	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		4	61	1	0	0.00909568	1	0.0104432	4	61				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	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)	ENST00000288602.6	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(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)	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		v-raf murine sarcoma viral oncogene homolog B	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_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	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		21	60	0	0	0	1	0	21	60				
LRRC37A11P	342666	broad.mit.edu	37	17	37188177	37188177	+	RNA	SNP	C	C	A			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr17:37188177C>A	ENST00000425901.2	+	0	2019					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		CTTGAGGTGACACTTCCACCG	0.502																																						ENST00000425901.2																			0																																																			0							g.chr17:37188177C>A			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188177C>A								NR_033753.2						0	2019	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.502	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		8	100	1	0	0.307466	1	0.307466	8	100				
ANKZF1	55139	broad.mit.edu	37	2	220097799	220097799	+	Splice_Site	SNP	A	A	G			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr2:220097799A>G	ENST00000323348.5	+	6	732		c.e6-1		ANKZF1_ENST00000409849.1_Splice_Site|ANKZF1_ENST00000410034.3_Splice_Site	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1							membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGTCATCAAGGATCCCCCA	0.468																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.e6-1		ankyrin repeat and zinc finger domain containing 1							166.0	163.0	164.0					2																	220097799		1951	4165	6116	SO:0001630	splice_region_variant	55139					intracellular	zinc ion binding	g.chr2:220097799A>G	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.559-1A>G	2.37:g.220097799A>G						ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Splice_Site		NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	732	+		Renal(207;0.0474)						Q9NVZ4	Splice_Site	SNP	ENST00000323348.5	37		CCDS42821.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.504040	0.26949	.	.	ENSG00000163516	ENST00000323348;ENST00000410034	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5158	0.50520	0.866:0.0:0.0:0.134	.	.	.	.	.	-1	.	.	.	+	.	.	ANKZF1	219806043	1.000000	0.71417	0.416000	0.26546	0.562000	0.35680	3.587000	0.53957	2.311000	0.77944	0.533000	0.62120	.		0.468	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089	Intron	60	117	0	0	0	1	0	60	117				
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	lincRNA	DEL	A	A	-	rs71104976		TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CCTGTCCCAGAAAAAAAAAAA	0.388																																						ENST00000484892.1																			0																																																			0							g.chr3:84741480delA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741480delA								NR_033860.1						0	2354	-									RNA	DEL	ENST00000484892.1	37																																																																																						0.388	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			2	4						2	4	---	---	---	---
NSUN3	63899	broad.mit.edu	37	3	93802955	93802956	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr3:93802955_93802956delAT	ENST00000314622.4	+	3	338_339	c.127_128delAT	c.(127-129)atafs	p.I43fs		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	43							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTCTAGGGAGATACTAACATCT	0.332																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(127-129)afs		NOP2/Sun domain family, member 3																																				SO:0001589	frameshift_variant	63899						methyltransferase activity	g.chr3:93802955_93802956delAT	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.127_128delAT	3.37:g.93802955_93802956delAT	ENSP00000318986:p.Ile43fs						p.I43fs	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN			3	338_339	+			43					Q6PG41|Q8IXG9|Q9H6M2	Frame_Shift_Del	DEL	ENST00000314622.4	37	c.127_128delAT	CCDS2927.1																																																																																				0.332	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		12	52						12	52	---	---	---	---
SNORA26	677810	broad.mit.edu	37	9	89875500	89875500	+	RNA	DEL	A	A	-			TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr9:89875500delA	ENST00000391119.1	+	0	136									small nucleolar RNA, H/ACA box 26																		GAGCCACAGCaaaaaaaaaaa	0.363																																						ENST00000391119.1																			0																																																			0							g.chr9:89875500delA			4q12	2013-09-05			ENSG00000212588	ENSG00000212588		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32616	non-coding RNA	RNA, small nucleolar		614626				11387227, 16381836	Standard	NR_003016		Approved	HBI-6	uc021wzl.1				9.37:g.89875500delA														0	136	+									RNA	DEL	ENST00000391119.1	37																																																																																						0.363	SNORA26.3-201	NOVEL	basic	snoRNA	snoRNA		NR_003016		2	4						2	4	---	---	---	---
CCER1	196477	broad.mit.edu	37	12	91347581	91347582	+	In_Frame_Ins	INS	-	-	TCT	rs374196591|rs558083520|rs376547014	byFrequency	TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr12:91347581_91347582insTCT	ENST00000358859.2	-	1	1371_1372	c.938_939insAGA	c.(937-939)gag>gaAGAg	p.313_313E>EE	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	313	Glu-rich.																catcttcgacctcttcctcctc	0.535																																						ENST00000358859.2																			0											c.(937-939)ggt>gAGAgt		coiled-coil glutamate-rich protein 1				20,4244		0,20,2112						1.8	0.0		dbSNP_107	204	107,8147		2,103,4022	no	coding	C12orf12	NM_152638.2		2,123,6134	A1A1,A1R,RR		1.2963,0.469,1.0145				127,12391				SO:0001652	inframe_insertion	196477							g.chr12:91347581_91347582insTCT	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.936_938dupAGA	12.37:g.91347582_91347584dupTCT	ENSP00000351727:p.Glu313dup					CCER1_ENST00000548187.1_Intron	p.313_313G>ES	NM_152638.2	NP_689851.1					1	1371_1372	-								Q8TC47	In_Frame_Ins	INS	ENST00000358859.2	37	c.938_939insAGA	CCDS9036.1																																																																																				0.535	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		29	67						29	67	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			3	3						3	3	---	---	---	---
ACTG1	71	broad.mit.edu	37	17	79478060	79478060	+	Frame_Shift_Del	DEL	G	G	-	rs143205514	byFrequency	TCGA-EM-A4FF-01A-11D-A257-08	TCGA-EM-A4FF-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d646e7-56a5-4300-8262-fc3568731137	4189595e-d0f6-47bc-ab41-0ef3359201e1	g.chr17:79478060delG	ENST00000575842.1	-	4	1303	c.877delC	c.(877-879)ctgfs	p.L293fs	ACTG1_ENST00000575087.1_Frame_Shift_Del_p.L293fs|ACTG1_ENST00000331925.2_Frame_Shift_Del_p.L293fs|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Frame_Shift_Del_p.L293fs			P63261	ACTG_HUMAN	actin, gamma 1	293					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TTGGCGTACAGGTCTTTGCGG	0.592																																						ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(877-879)tgfs		actin, gamma 1							92.0	86.0	88.0					17																	79478060		2203	4300	6503	SO:0001589	frameshift_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478060delG		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.877delC	17.37:g.79478060delG	ENSP00000458162:p.Leu293fs					ACTG1_ENST00000331925.2_Frame_Shift_Del_p.L293fs|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Frame_Shift_Del_p.L293fs|ACTG1_ENST00000573283.1_Frame_Shift_Del_p.L293fs	p.L293fs			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		4	1303	-	all_neural(118;0.0878)|Melanoma(429;0.242)		293					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Frame_Shift_Del	DEL	ENST00000575842.1	37	c.877delC	CCDS11782.1																																																																																				0.592	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		7	99						7	99	---	---	---	---
