#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
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:90296352C>T	ENST00000408954.3	+	20	2370	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R679*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.3																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(2035-2037)Cga>Tga		Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.							106.0	111.0	109.0					9																	90296352		1996	4187	6183	SO:0001587	stop_gained	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90296352C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2035C>T	9.37:g.90296352C>T	ENSP00000386135:p.Arg679*		Somatic				DAPK1_uc004apd.3_Nonsense_Mutation_p.R679*|DAPK1_uc011ltg.2_Nonsense_Mutation_p.R679*|DAPK1_uc011lth.2_Nonsense_Mutation_p.R416*|DAPK1_uc004apf.1_Nonsense_Mutation_p.R233*	p.R679*	NM_004938	NP_004929	WXS	Illumina GAIIx	Phase_I	P53355	DAPK1_HUMAN			19	2173	+			679					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.2035C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	41	8.940517	0.99010	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.17	3.34	0.38264	.	0.000000	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	7.1402	0.25552	0.4506:0.4684:0.0:0.081	.	.	.	.	X	679	.	ENSP00000350785:R679X	R	+	1	2	DAPK1	89486172	0.848000	0.29623	0.868000	0.34077	0.941000	0.58515	1.381000	0.34362	0.782000	0.33613	0.561000	0.74099	CGA		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		63	86	0	0	0	1	0	63	86				
CST6	1474	broad.mit.edu	37	11	65780827	65780827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr11:65780827C>T	ENST00000312134.2	+	3	610	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	136					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						GGTTCCCTGGCAGAACTCCTC	0.582																																						uc001ogr.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(406-408)Cag>Tag		Homo sapiens cystatin E/M (CST6), mRNA.							198.0	155.0	169.0					11																	65780827		2201	4296	6497	SO:0001587	stop_gained	1474				anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr11:65780827C>T	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.406C>T	11.37:g.65780827C>T	ENSP00000311313:p.Gln136*		Somatic				CST6_uc001ogs.1_3'UTR	p.Q136*	NM_001323	NP_001314	WXS	Illumina GAIIx	Phase_I	Q15828	CYTM_HUMAN			2	460	+			136					Q540N7	Nonsense_Mutation	SNP	ENST00000312134.2	37	c.406C>T	CCDS8126.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922217	0.33908	.	.	ENSG00000175315	ENST00000312134	.	.	.	4.95	-9.91	0.00458	.	1.052600	0.07467	N	0.901664	.	.	.	.	.	.	0.48975	D	0.999733	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-1.7483	12.1629	0.54113	0.6458:0.1037:0.2505:0.0	.	.	.	.	X	136	.	ENSP00000311313:Q136X	Q	+	1	0	CST6	65537403	0.007000	0.16637	0.453000	0.27007	0.115000	0.19883	-2.605000	0.00889	-1.794000	0.01256	-1.036000	0.02392	CAG		0.582	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		8	85	0	0	0	1	0	8	85				
ANO2	57101	broad.mit.edu	37	12	5916525	5916525	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr12:5916525G>C	ENST00000356134.5	-	9	964	c.893C>G	c.(892-894)tCt>tGt	p.S298C	ANO2_ENST00000327087.8_Missense_Mutation_p.S297C|ANO2_ENST00000546188.1_Missense_Mutation_p.S298C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	302					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGCGATCAGAGAGTTAATACC	0.403																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(889-891)tCt>tGt		Homo sapiens anoctamin 2 (ANO2), mRNA.							73.0	73.0	73.0					12																	5916525		1870	4047	5917	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5916525G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.893C>G	12.37:g.5916525G>C	ENSP00000348453:p.Ser298Cys		Somatic					p.S297C	NM_020373	NP_065106	WXS	Illumina GAIIx	Phase_I	Q9NQ90	ANO2_HUMAN			7	962	-			302					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.890C>G		.	.	.	.	.	.	.	.	.	.	G	16.99	3.274128	0.59649	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66815	-0.23;-0.23;-0.23	5.48	5.48	0.80851	.	0.051025	0.85682	D	0.000000	D	0.82268	0.5000	M	0.78223	2.4	0.39753	D	0.971913	D	0.76494	0.999	D	0.70016	0.967	D	0.84574	0.0657	10	0.62326	D	0.03	.	18.3418	0.90308	0.0:0.0:1.0:0.0	.	297	Q9NQ90-3	.	C	297;298;298;302	ENSP00000314048:S297C;ENSP00000348453:S298C;ENSP00000440981:S298C	ENSP00000314048:S297C	S	-	2	0	ANO2	5786786	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	4.928000	0.63447	2.567000	0.86603	0.557000	0.71058	TCT		0.403	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		4	3	0	0	0	1	0	4	3				
NR4A2	4929	broad.mit.edu	37	2	157182823	157182823	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr2:157182823C>T	ENST00000339562.4	-	7	1741	c.1379G>A	c.(1378-1380)gGt>gAt	p.G460D	NR4A2_ENST00000429376.1_Splice_Site|NR4A2_ENST00000426264.1_Missense_Mutation_p.G397D|NR4A2_ENST00000409108.2_Splice_Site|NR4A2_ENST00000409572.1_Missense_Mutation_p.G460D|NR4A2_ENST00000539077.1_Missense_Mutation_p.G471D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	460					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GATGAGTTTACCCTCCACTGG	0.428																																						uc002tyz.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1378-1380)gGt>gAt		Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.							94.0	78.0	84.0					2																	157182823		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182823C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1379G>A	2.37:g.157182823C>T	ENSP00000344479:p.Gly460Asp		Somatic				NR4A2_uc021vri.1_Missense_Mutation_p.G435D|NR4A2_uc002tyx.4_Missense_Mutation_p.G397D|NR4A2_uc010zcf.2_Missense_Mutation_p.G460D|NR4A2_uc010zcg.1_Intron	p.G460D	NM_006186	NP_006177	WXS	Illumina GAIIx	Phase_I	P43354	NR4A2_HUMAN			6	1801	-			460					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1379G>A	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.95|14.95	2.689573|2.689573	0.48097|0.48097	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000409108;ENST00000429376|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.049685	.|0.85682	.|D	.|0.000000	.|T	.|0.20129	.|0.0484	N|N	0.02266|0.02266	-0.62|-0.62	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.11329	.|0.006	.|T	.|0.23261	.|-1.0193	.|10	.|0.02654	.|T	.|1	.|.	20.0396|20.0396	0.97574|0.97574	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|460	.|P43354	.|NR4A2_HUMAN	.|D	-1|460;397;460;471	.|ENSP00000344479:G460D;ENSP00000389986:G397D;ENSP00000386747:G460D;ENSP00000444925:G471D	.|ENSP00000344479:G460D	.|G	-|-	.|2	.|0	NR4A2|NR4A2	156891069|156891069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.050000|6.050000	0.71063|0.71063	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	.|GGT		0.428	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			23	26	0	0	0	1	0	23	26				
MYCBPAP	84073	broad.mit.edu	37	17	48596401	48596401	+	Missense_Mutation	SNP	A	A	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr17:48596401A>T	ENST00000323776.5	+	6	1010	c.848A>T	c.(847-849)gAg>gTg	p.E283V	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E246V	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CGGATCCAGGAGGAGCGGGAG	0.602																																						uc010wmr.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(847-849)gAg>gTg		Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.							72.0	70.0	71.0					17																	48596401		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48596401A>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.848A>T	17.37:g.48596401A>T	ENSP00000323184:p.Glu283Val		Somatic				MYCBPAP_uc002iqz.3_Non-coding_Transcript	p.E283V	NM_032133	NP_115509	WXS	Illumina GAIIx	Phase_I	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		5	1010	+	Breast(11;1.23e-18)		246						Missense_Mutation	SNP	ENST00000323776.5	37	c.848A>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678664	0.68042	.	.	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T;T	0.51574	0.7;0.7;0.7	5.65	5.65	0.86999	.	0.121721	0.56097	D	0.000022	T	0.70316	0.3210	M	0.81497	2.545	0.50171	D	0.999858	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74870	-0.3517	10	0.87932	D	0	-39.5536	14.7339	0.69402	1.0:0.0:0.0:0.0	.	246;283	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	V	283;298;246	ENSP00000323184:E283V;ENSP00000407145:E298V;ENSP00000397209:E246V	ENSP00000323184:E283V	E	+	2	0	MYCBPAP	45951400	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.922000	0.70036	2.276000	0.75962	0.460000	0.39030	GAG		0.602	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		26	38	0	0	0	1	0	26	38				
FUZ	80199	broad.mit.edu	37	19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C	rs372004761		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr19:50315885T>C	ENST00000313777.4	-	2	383	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_ENST00000528094.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G|FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	74					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572																																						uc002ppq.2																			0				endometrium(1)|lung(3)	4						c.(220-222)Agc>Ggc		Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.		T	,GLY/SER	1,4405	2.1+/-5.4	0,1,2202	112.0	97.0	102.0		,220	5.3	1.0	19		102	0,8600		0,0,4300	no	intron,missense	FUZ	NM_001171937.1,NM_025129.4	,56	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,benign	,74/419	50315885	1,13005	2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50315885T>C	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.220A>G	19.37:g.50315885T>C	ENSP00000313309:p.Ser74Gly		Somatic				FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Intron|FUZ_uc010ybd.2_Missense_Mutation_p.S74G	p.S74G	NM_025129	NP_079405	WXS	Illumina GAIIx	Phase_I	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	1	424	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	74					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.220A>G	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014385	0.35511	2.27E-4	0.0	ENSG00000010361	ENST00000525130;ENST00000533418;ENST00000529634;ENST00000525370;ENST00000313777;ENST00000445575;ENST00000529004;ENST00000421740;ENST00000526575	T;T;T;T;T;T	0.64438	-0.1;-0.08;-0.1;-0.08;-0.09;-0.1	5.26	5.26	0.73747	.	0.417706	0.26231	N	0.025569	T	0.46405	0.1391	L	0.29908	0.895	0.19575	N	0.999963	B;B	0.28291	0.206;0.199	B;B	0.28011	0.085;0.076	T	0.32719	-0.9896	10	0.27082	T	0.32	-6.1751	7.9252	0.29870	0.0:0.0923:0.0:0.9077	.	74;74	B4DHF8;Q9BT04	.;FUZZY_HUMAN	G	74;24;74;74;74;74;24;74;74	ENSP00000433492:S74G;ENSP00000431731:S24G;ENSP00000431420:S74G;ENSP00000313309:S74G;ENSP00000408018:S74G;ENSP00000433164:S74G	ENSP00000313309:S74G	S	-	1	0	FUZ	55007697	0.995000	0.38212	1.000000	0.80357	0.976000	0.68499	3.432000	0.52824	2.012000	0.59069	0.374000	0.22700	AGC		0.572	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		3	62	0	0	0	1	0	3	62				
DMXL2	23312	broad.mit.edu	37	15	51837864	51837864	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr15:51837864C>A	ENST00000251076.5	-	8	1133	c.846G>T	c.(844-846)caG>caT	p.Q282H	DMXL2_ENST00000449909.3_Missense_Mutation_p.Q282H|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q282H|DMXL2_ENST00000560421.1_5'Flank	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	282						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCACAAATCTGCTCACCCA	0.433																																						uc010ufy.2																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(844-846)caG>caT		Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.							147.0	146.0	147.0					15																	51837864		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51837864C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.846G>T	15.37:g.51837864C>A	ENSP00000251076:p.Gln282His		Somatic				DMXL2_uc002abf.3_Missense_Mutation_p.Q282H|DMXL2_uc010bfa.3_Missense_Mutation_p.Q282H	p.Q282H	NM_001174116	NP_001167587	WXS	Illumina GAIIx	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	7	1071	-			282					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.846G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331001	0.24167	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.25912	1.92;1.92;1.77	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.49350	1.555	0.27029	N	0.964278	D;D;P	0.67145	0.983;0.996;0.94	P;D;P	0.75484	0.807;0.986;0.726	T	0.24404	-1.0161	10	0.29301	T	0.29	.	11.3189	0.49410	0.0:0.8612:0.0:0.1388	.	282;282;282	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	H	282	ENSP00000251076:Q282H;ENSP00000441858:Q282H;ENSP00000400855:Q282H	ENSP00000251076:Q282H	Q	-	3	2	DMXL2	49625156	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	3.079000	0.50104	1.529000	0.49120	0.655000	0.94253	CAG		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		63	48	0	0	0	1	0	63	48				
TBC1D2	55357	broad.mit.edu	37	9	100973003	100973003	+	Silent	SNP	G	G	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:100973003G>A	ENST00000375064.1	-	8	1646	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.V536V|TBC1D2_ENST00000342112.5_Silent_p.V318V|TBC1D2_ENST00000375063.1_Silent_p.V76V	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	536					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTGCCTCCTGGACAAGCTGCC	0.637																																						uc011lvb.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1606-1608)gtC>gtT		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							28.0	22.0	24.0					9																	100973003		2201	4300	6501	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100973003G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1608C>T	9.37:g.100973003G>A			Somatic				TBC1D2_uc004ayp.3_Silent_p.V76V|TBC1D2_uc004ayq.3_Silent_p.V536V|TBC1D2_uc004ayr.3_Silent_p.V318V	p.V536V	NM_018421	NP_060891	WXS	Illumina GAIIx	Phase_I	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	7	1788	-		Myeloproliferative disorder(762;0.0255)	536					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.1608C>T																																																																																					0.637	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		4	3	0	0	0	1	0	4	3				
CATSPERB	79820	broad.mit.edu	37	14	92126274	92126274	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr14:92126274G>C	ENST00000256343.3	-	15	1495	c.1339C>G	c.(1339-1341)Cat>Gat	p.H447D		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	447					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATCATCATGAAAGTTAGCT	0.353																																						uc001xzs.1																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1339-1341)Cat>Gat		Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.							79.0	80.0	80.0					14																	92126274		2203	4299	6502	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92126274G>C	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1339C>G	14.37:g.92126274G>C	ENSP00000256343:p.His447Asp		Somatic				CATSPERB_uc010aub.1_Intron	p.H447D	NM_024764	NP_079040	WXS	Illumina GAIIx	Phase_I	Q9H7T0	CTSRB_HUMAN			14	1479	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	447					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1339C>G	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	4.006	-0.001622	0.07819	.	.	ENSG00000133962	ENST00000256343	T	0.40476	1.03	4.76	-0.727	0.11166	.	0.917922	0.09102	N	0.848402	T	0.24547	0.0595	L	0.47716	1.5	0.09310	N	1	B	0.32160	0.358	B	0.25140	0.058	T	0.19451	-1.0305	10	0.09084	T	0.74	-4.1208	2.2113	0.03948	0.1612:0.2877:0.4044:0.1468	.	447	Q9H7T0	CTSRB_HUMAN	D	447	ENSP00000256343:H447D	ENSP00000256343:H447D	H	-	1	0	CATSPERB	91196027	0.000000	0.05858	0.076000	0.20297	0.095000	0.18619	-0.611000	0.05622	-0.045000	0.13468	-0.324000	0.08512	CAT		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	70	0	0	0	1	0	3	70				
ESRP1	54845	broad.mit.edu	37	8	95683762	95683762	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:95683762C>T	ENST00000433389.2	+	11	1505	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	ESRP1_ENST00000358397.5_Missense_Mutation_p.P439S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P439S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P439S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	439					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCAATTTGTGCCCCCTACAAA	0.493																																						uc003ygq.4																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1315-1317)Ccc>Tcc		Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.							119.0	116.0	117.0					8																	95683762		1915	4133	6048	SO:0001583	missense	54845				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683762C>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1315C>T	8.37:g.95683762C>T	ENSP00000405738:p.Pro439Ser		Somatic				ESRP1_uc003ygr.4_Missense_Mutation_p.P439S|ESRP1_uc003ygs.4_Missense_Mutation_p.P439S|ESRP1_uc003ygt.4_Missense_Mutation_p.P439S|ESRP1_uc003ygu.4_Missense_Mutation_p.P439S|ESRP1_uc003ygv.3_Missense_Mutation_p.P279S|ESRP1_uc003ygw.3_Missense_Mutation_p.P279S	p.P439S	NM_017697	NP_060167	WXS	Illumina GAIIx	Phase_I	Q6NXG1	ESRP1_HUMAN			10	1498	+			439					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1315C>T	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.72|12.72	2.022577|2.022577	0.35701|0.35701	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;2.86;1.62	5.11|5.11	2.16|2.16	0.27623|0.27623	.|.	.|0.095060	.|0.85682	.|N	.|0.000000	T|T	0.24699|0.24699	0.0599|0.0599	L|L	0.40543|0.40543	1.245|1.245	0.53005|0.53005	D|D	0.999964|0.999964	.|P;B;B;B;B;B	.|0.47910	.|0.902;0.029;0.082;0.002;0.003;0.005	.|P;B;B;B;B;B	.|0.47402	.|0.546;0.087;0.061;0.011;0.025;0.04	T|T	0.08411|0.08411	-1.0723|-1.0723	5|10	.|0.08381	.|T	.|0.77	-1.6344|-1.6344	8.4027|8.4027	0.32597|0.32597	0.1252:0.7385:0.0:0.1362|0.1252:0.7385:0.0:0.1362	.|.	.|439;439;439;439;439;439	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	V|S	304|439;439;439;439;298	.|ENSP00000407349:P439S;ENSP00000405738:P439S;ENSP00000351168:P439S;ENSP00000402766:P439S;ENSP00000429125:P298S	.|ENSP00000351168:P439S	A|P	+|+	2|1	0|0	ESRP1|ESRP1	95752938|95752938	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.799000|0.799000	0.45148|0.45148	3.306000|3.306000	0.51881|0.51881	0.654000|0.654000	0.30846|0.30846	-0.793000|-0.793000	0.03317|0.03317	GCC|CCC		0.493	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		5	64	0	0	0	1	0	5	64				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		59	81	0	0	0	1	0	59	81				
PKDREJ	10343	broad.mit.edu	37	22	46653016	46653016	+	Nonsense_Mutation	SNP	A	A	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr22:46653016A>C	ENST00000253255.5	-	1	6203	c.6204T>G	c.(6202-6204)taT>taG	p.Y2068*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2068					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAATCTGGAATACCTGAGGG	0.463																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6202-6204)taT>taG		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.							49.0	53.0	52.0					22																	46653016		2203	4300	6503	SO:0001587	stop_gained	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653016A>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6204T>G	22.37:g.46653016A>C	ENSP00000253255:p.Tyr2068*		Somatic					p.Y2068*	NM_006071	NP_006062	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	6204	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2068					B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	c.6204T>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	46	12.261193	0.99651	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.88	1.44	0.22558	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.9877	8.1521	0.31148	0.685:0.0:0.315:0.0	.	.	.	.	X	2068	.	ENSP00000253255:Y2068X	Y	-	3	2	PKDREJ	45031680	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	1.478000	0.35442	0.142000	0.18901	0.455000	0.32223	TAT		0.463	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		12	16	0	0	0	1	0	12	16				
PENK	5179	broad.mit.edu	37	8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T	rs376111422		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:57353902C>T	ENST00000314922.3	-	2	809	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_ENST00000451791.2_Missense_Mutation_p.E245K|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	245					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498																																						uc003xsz.2																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(733-735)Gaa>Aaa		Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	75.0	83.0	80.0		733,733	5.9	1.0	8		80	0,8600		0,0,4300	no	missense,missense	PENK	NM_001135690.1,NM_006211.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	245/268,245/268	57353902	1,13005	2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353902C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.733G>A	8.37:g.57353902C>T	ENSP00000324248:p.Glu245Lys		Somatic				PENK_uc003xta.3_Missense_Mutation_p.E245K	p.E245K	NM_006211	NP_006202	WXS	Illumina GAIIx	Phase_I	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		1	814	-		all_lung(136;0.229)	245					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.733G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161074	0.94727	2.27E-4	0.0	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.21191	2.02;2.02	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.76727	2.345	0.80722	D	1	D	0.76494	0.999	P	0.59115	0.852	T	0.37197	-0.9716	10	0.72032	D	0.01	-28.2524	19.2867	0.94077	0.0:1.0:0.0:0.0	.	245	P01210	PENK_HUMAN	K	245	ENSP00000324248:E245K;ENSP00000400894:E245K	ENSP00000324248:E245K	E	-	1	0	PENK	57516456	1.000000	0.71417	0.969000	0.41365	0.770000	0.43624	6.223000	0.72257	2.793000	0.96121	0.655000	0.94253	GAA		0.498	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			23	86	0	0	0	1	0	23	86				
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr9:90296352C>T	ENST00000408954.3	+	20	2370	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R679*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.3																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(2035-2037)Cga>Tga		Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.							106.0	111.0	109.0					9																	90296352		1996	4187	6183	SO:0001587	stop_gained	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90296352C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2035C>T	9.37:g.90296352C>T	ENSP00000386135:p.Arg679*		Somatic				DAPK1_uc004apd.3_Nonsense_Mutation_p.R679*|DAPK1_uc011ltg.2_Nonsense_Mutation_p.R679*|DAPK1_uc011lth.2_Nonsense_Mutation_p.R416*|DAPK1_uc004apf.1_Nonsense_Mutation_p.R233*	p.R679*	NM_004938	NP_004929	WXS	Illumina GAIIx	Phase_I	P53355	DAPK1_HUMAN			19	2173	+			679					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.2035C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	41	8.940517	0.99010	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.17	3.34	0.38264	.	0.000000	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	7.1402	0.25552	0.4506:0.4684:0.0:0.081	.	.	.	.	X	679	.	ENSP00000350785:R679X	R	+	1	2	DAPK1	89486172	0.848000	0.29623	0.868000	0.34077	0.941000	0.58515	1.381000	0.34362	0.782000	0.33613	0.561000	0.74099	CGA		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		63	86	0	0	0	1	0	63	86				
CST6	1474	broad.mit.edu	37	11	65780827	65780827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr11:65780827C>T	ENST00000312134.2	+	3	610	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	136					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						GGTTCCCTGGCAGAACTCCTC	0.582																																						uc001ogr.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(406-408)Cag>Tag		Homo sapiens cystatin E/M (CST6), mRNA.							198.0	155.0	169.0					11																	65780827		2201	4296	6497	SO:0001587	stop_gained	1474				anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr11:65780827C>T	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.406C>T	11.37:g.65780827C>T	ENSP00000311313:p.Gln136*		Somatic				CST6_uc001ogs.1_3'UTR	p.Q136*	NM_001323	NP_001314	WXS	Illumina GAIIx	Phase_I	Q15828	CYTM_HUMAN			2	460	+			136					Q540N7	Nonsense_Mutation	SNP	ENST00000312134.2	37	c.406C>T	CCDS8126.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922217	0.33908	.	.	ENSG00000175315	ENST00000312134	.	.	.	4.95	-9.91	0.00458	.	1.052600	0.07467	N	0.901664	.	.	.	.	.	.	0.48975	D	0.999733	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-1.7483	12.1629	0.54113	0.6458:0.1037:0.2505:0.0	.	.	.	.	X	136	.	ENSP00000311313:Q136X	Q	+	1	0	CST6	65537403	0.007000	0.16637	0.453000	0.27007	0.115000	0.19883	-2.605000	0.00889	-1.794000	0.01256	-1.036000	0.02392	CAG		0.582	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		8	85	0	0	0	1	0	8	85				
NR4A2	4929	broad.mit.edu	37	2	157182823	157182823	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr2:157182823C>T	ENST00000339562.4	-	7	1741	c.1379G>A	c.(1378-1380)gGt>gAt	p.G460D	NR4A2_ENST00000429376.1_Splice_Site|NR4A2_ENST00000426264.1_Missense_Mutation_p.G397D|NR4A2_ENST00000409108.2_Splice_Site|NR4A2_ENST00000409572.1_Missense_Mutation_p.G460D|NR4A2_ENST00000539077.1_Missense_Mutation_p.G471D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	460					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GATGAGTTTACCCTCCACTGG	0.428																																						uc002tyz.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1378-1380)gGt>gAt		Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.							94.0	78.0	84.0					2																	157182823		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182823C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1379G>A	2.37:g.157182823C>T	ENSP00000344479:p.Gly460Asp		Somatic				NR4A2_uc021vri.1_Missense_Mutation_p.G435D|NR4A2_uc002tyx.4_Missense_Mutation_p.G397D|NR4A2_uc010zcf.2_Missense_Mutation_p.G460D|NR4A2_uc010zcg.1_Intron	p.G460D	NM_006186	NP_006177	WXS	Illumina GAIIx	Phase_I	P43354	NR4A2_HUMAN			6	1801	-			460					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1379G>A	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.95|14.95	2.689573|2.689573	0.48097|0.48097	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000409108;ENST00000429376|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.049685	.|0.85682	.|D	.|0.000000	.|T	.|0.20129	.|0.0484	N|N	0.02266|0.02266	-0.62|-0.62	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.11329	.|0.006	.|T	.|0.23261	.|-1.0193	.|10	.|0.02654	.|T	.|1	.|.	20.0396|20.0396	0.97574|0.97574	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|460	.|P43354	.|NR4A2_HUMAN	.|D	-1|460;397;460;471	.|ENSP00000344479:G460D;ENSP00000389986:G397D;ENSP00000386747:G460D;ENSP00000444925:G471D	.|ENSP00000344479:G460D	.|G	-|-	.|2	.|0	NR4A2|NR4A2	156891069|156891069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.050000|6.050000	0.71063|0.71063	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	.|GGT		0.428	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			23	26	0	0	0	1	0	23	26				
MYCBPAP	84073	broad.mit.edu	37	17	48596401	48596401	+	Missense_Mutation	SNP	A	A	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr17:48596401A>T	ENST00000323776.5	+	6	1010	c.848A>T	c.(847-849)gAg>gTg	p.E283V	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E246V	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CGGATCCAGGAGGAGCGGGAG	0.602																																						uc010wmr.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(847-849)gAg>gTg		Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.							72.0	70.0	71.0					17																	48596401		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48596401A>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.848A>T	17.37:g.48596401A>T	ENSP00000323184:p.Glu283Val		Somatic				MYCBPAP_uc002iqz.3_Non-coding_Transcript	p.E283V	NM_032133	NP_115509	WXS	Illumina GAIIx	Phase_I	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		5	1010	+	Breast(11;1.23e-18)		246						Missense_Mutation	SNP	ENST00000323776.5	37	c.848A>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678664	0.68042	.	.	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T;T	0.51574	0.7;0.7;0.7	5.65	5.65	0.86999	.	0.121721	0.56097	D	0.000022	T	0.70316	0.3210	M	0.81497	2.545	0.50171	D	0.999858	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74870	-0.3517	10	0.87932	D	0	-39.5536	14.7339	0.69402	1.0:0.0:0.0:0.0	.	246;283	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	V	283;298;246	ENSP00000323184:E283V;ENSP00000407145:E298V;ENSP00000397209:E246V	ENSP00000323184:E283V	E	+	2	0	MYCBPAP	45951400	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.922000	0.70036	2.276000	0.75962	0.460000	0.39030	GAG		0.602	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		26	38	0	0	0	1	0	26	38				
FUZ	80199	broad.mit.edu	37	19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C	rs372004761		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr19:50315885T>C	ENST00000313777.4	-	2	383	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_ENST00000528094.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G|FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	74					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572																																						uc002ppq.2																			0				endometrium(1)|lung(3)	4						c.(220-222)Agc>Ggc		Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.		T	,GLY/SER	1,4405	2.1+/-5.4	0,1,2202	112.0	97.0	102.0		,220	5.3	1.0	19		102	0,8600		0,0,4300	no	intron,missense	FUZ	NM_001171937.1,NM_025129.4	,56	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,benign	,74/419	50315885	1,13005	2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50315885T>C	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.220A>G	19.37:g.50315885T>C	ENSP00000313309:p.Ser74Gly		Somatic				FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Intron|FUZ_uc010ybd.2_Missense_Mutation_p.S74G	p.S74G	NM_025129	NP_079405	WXS	Illumina GAIIx	Phase_I	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	1	424	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	74					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.220A>G	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014385	0.35511	2.27E-4	0.0	ENSG00000010361	ENST00000525130;ENST00000533418;ENST00000529634;ENST00000525370;ENST00000313777;ENST00000445575;ENST00000529004;ENST00000421740;ENST00000526575	T;T;T;T;T;T	0.64438	-0.1;-0.08;-0.1;-0.08;-0.09;-0.1	5.26	5.26	0.73747	.	0.417706	0.26231	N	0.025569	T	0.46405	0.1391	L	0.29908	0.895	0.19575	N	0.999963	B;B	0.28291	0.206;0.199	B;B	0.28011	0.085;0.076	T	0.32719	-0.9896	10	0.27082	T	0.32	-6.1751	7.9252	0.29870	0.0:0.0923:0.0:0.9077	.	74;74	B4DHF8;Q9BT04	.;FUZZY_HUMAN	G	74;24;74;74;74;74;24;74;74	ENSP00000433492:S74G;ENSP00000431731:S24G;ENSP00000431420:S74G;ENSP00000313309:S74G;ENSP00000408018:S74G;ENSP00000433164:S74G	ENSP00000313309:S74G	S	-	1	0	FUZ	55007697	0.995000	0.38212	1.000000	0.80357	0.976000	0.68499	3.432000	0.52824	2.012000	0.59069	0.374000	0.22700	AGC		0.572	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		3	62	0	0	0	1	0	3	62				
DMXL2	23312	broad.mit.edu	37	15	51837864	51837864	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr15:51837864C>A	ENST00000251076.5	-	8	1133	c.846G>T	c.(844-846)caG>caT	p.Q282H	DMXL2_ENST00000449909.3_Missense_Mutation_p.Q282H|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q282H|DMXL2_ENST00000560421.1_5'Flank	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	282						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCACAAATCTGCTCACCCA	0.433																																						uc010ufy.2																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(844-846)caG>caT		Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.							147.0	146.0	147.0					15																	51837864		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51837864C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.846G>T	15.37:g.51837864C>A	ENSP00000251076:p.Gln282His		Somatic				DMXL2_uc002abf.3_Missense_Mutation_p.Q282H|DMXL2_uc010bfa.3_Missense_Mutation_p.Q282H	p.Q282H	NM_001174116	NP_001167587	WXS	Illumina GAIIx	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	7	1071	-			282					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.846G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331001	0.24167	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.25912	1.92;1.92;1.77	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.49350	1.555	0.27029	N	0.964278	D;D;P	0.67145	0.983;0.996;0.94	P;D;P	0.75484	0.807;0.986;0.726	T	0.24404	-1.0161	10	0.29301	T	0.29	.	11.3189	0.49410	0.0:0.8612:0.0:0.1388	.	282;282;282	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	H	282	ENSP00000251076:Q282H;ENSP00000441858:Q282H;ENSP00000400855:Q282H	ENSP00000251076:Q282H	Q	-	3	2	DMXL2	49625156	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	3.079000	0.50104	1.529000	0.49120	0.655000	0.94253	CAG		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		63	48	0	0	0	1	0	63	48				
CATSPERB	79820	broad.mit.edu	37	14	92126274	92126274	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr14:92126274G>C	ENST00000256343.3	-	15	1495	c.1339C>G	c.(1339-1341)Cat>Gat	p.H447D		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	447					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATCATCATGAAAGTTAGCT	0.353																																						uc001xzs.1																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1339-1341)Cat>Gat		Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.							79.0	80.0	80.0					14																	92126274		2203	4299	6502	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92126274G>C	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1339C>G	14.37:g.92126274G>C	ENSP00000256343:p.His447Asp		Somatic				CATSPERB_uc010aub.1_Intron	p.H447D	NM_024764	NP_079040	WXS	Illumina GAIIx	Phase_I	Q9H7T0	CTSRB_HUMAN			14	1479	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	447					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1339C>G	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	4.006	-0.001622	0.07819	.	.	ENSG00000133962	ENST00000256343	T	0.40476	1.03	4.76	-0.727	0.11166	.	0.917922	0.09102	N	0.848402	T	0.24547	0.0595	L	0.47716	1.5	0.09310	N	1	B	0.32160	0.358	B	0.25140	0.058	T	0.19451	-1.0305	10	0.09084	T	0.74	-4.1208	2.2113	0.03948	0.1612:0.2877:0.4044:0.1468	.	447	Q9H7T0	CTSRB_HUMAN	D	447	ENSP00000256343:H447D	ENSP00000256343:H447D	H	-	1	0	CATSPERB	91196027	0.000000	0.05858	0.076000	0.20297	0.095000	0.18619	-0.611000	0.05622	-0.045000	0.13468	-0.324000	0.08512	CAT		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	70	0	0	0	1	0	3	70				
ESRP1	54845	broad.mit.edu	37	8	95683762	95683762	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr8:95683762C>T	ENST00000433389.2	+	11	1505	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	ESRP1_ENST00000358397.5_Missense_Mutation_p.P439S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P439S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P439S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	439					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCAATTTGTGCCCCCTACAAA	0.493																																						uc003ygq.4																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1315-1317)Ccc>Tcc		Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.							119.0	116.0	117.0					8																	95683762		1915	4133	6048	SO:0001583	missense	54845				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683762C>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1315C>T	8.37:g.95683762C>T	ENSP00000405738:p.Pro439Ser		Somatic				ESRP1_uc003ygr.4_Missense_Mutation_p.P439S|ESRP1_uc003ygs.4_Missense_Mutation_p.P439S|ESRP1_uc003ygt.4_Missense_Mutation_p.P439S|ESRP1_uc003ygu.4_Missense_Mutation_p.P439S|ESRP1_uc003ygv.3_Missense_Mutation_p.P279S|ESRP1_uc003ygw.3_Missense_Mutation_p.P279S	p.P439S	NM_017697	NP_060167	WXS	Illumina GAIIx	Phase_I	Q6NXG1	ESRP1_HUMAN			10	1498	+			439					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1315C>T	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.72|12.72	2.022577|2.022577	0.35701|0.35701	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;2.86;1.62	5.11|5.11	2.16|2.16	0.27623|0.27623	.|.	.|0.095060	.|0.85682	.|N	.|0.000000	T|T	0.24699|0.24699	0.0599|0.0599	L|L	0.40543|0.40543	1.245|1.245	0.53005|0.53005	D|D	0.999964|0.999964	.|P;B;B;B;B;B	.|0.47910	.|0.902;0.029;0.082;0.002;0.003;0.005	.|P;B;B;B;B;B	.|0.47402	.|0.546;0.087;0.061;0.011;0.025;0.04	T|T	0.08411|0.08411	-1.0723|-1.0723	5|10	.|0.08381	.|T	.|0.77	-1.6344|-1.6344	8.4027|8.4027	0.32597|0.32597	0.1252:0.7385:0.0:0.1362|0.1252:0.7385:0.0:0.1362	.|.	.|439;439;439;439;439;439	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	V|S	304|439;439;439;439;298	.|ENSP00000407349:P439S;ENSP00000405738:P439S;ENSP00000351168:P439S;ENSP00000402766:P439S;ENSP00000429125:P298S	.|ENSP00000351168:P439S	A|P	+|+	2|1	0|0	ESRP1|ESRP1	95752938|95752938	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.799000|0.799000	0.45148|0.45148	3.306000|3.306000	0.51881|0.51881	0.654000|0.654000	0.30846|0.30846	-0.793000|-0.793000	0.03317|0.03317	GCC|CCC		0.493	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		5	64	0	0	0	1	0	5	64				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		59	81	0	0	0	1	0	59	81				
PKDREJ	10343	broad.mit.edu	37	22	46653016	46653016	+	Nonsense_Mutation	SNP	A	A	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr22:46653016A>C	ENST00000253255.5	-	1	6203	c.6204T>G	c.(6202-6204)taT>taG	p.Y2068*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2068					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAATCTGGAATACCTGAGGG	0.463																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6202-6204)taT>taG		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.							49.0	53.0	52.0					22																	46653016		2203	4300	6503	SO:0001587	stop_gained	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653016A>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6204T>G	22.37:g.46653016A>C	ENSP00000253255:p.Tyr2068*		Somatic					p.Y2068*	NM_006071	NP_006062	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	6204	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2068					B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	c.6204T>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	46	12.261193	0.99651	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.88	1.44	0.22558	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.9877	8.1521	0.31148	0.685:0.0:0.315:0.0	.	.	.	.	X	2068	.	ENSP00000253255:Y2068X	Y	-	3	2	PKDREJ	45031680	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	1.478000	0.35442	0.142000	0.18901	0.455000	0.32223	TAT		0.463	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		12	16	0	0	0	1	0	12	16				
PENK	5179	broad.mit.edu	37	8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T	rs376111422		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr8:57353902C>T	ENST00000314922.3	-	2	809	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_ENST00000451791.2_Missense_Mutation_p.E245K|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	245					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498																																						uc003xsz.2																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(733-735)Gaa>Aaa		Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	75.0	83.0	80.0		733,733	5.9	1.0	8		80	0,8600		0,0,4300	no	missense,missense	PENK	NM_001135690.1,NM_006211.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	245/268,245/268	57353902	1,13005	2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353902C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.733G>A	8.37:g.57353902C>T	ENSP00000324248:p.Glu245Lys		Somatic				PENK_uc003xta.3_Missense_Mutation_p.E245K	p.E245K	NM_006211	NP_006202	WXS	Illumina GAIIx	Phase_I	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		1	814	-		all_lung(136;0.229)	245					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.733G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161074	0.94727	2.27E-4	0.0	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.21191	2.02;2.02	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.76727	2.345	0.80722	D	1	D	0.76494	0.999	P	0.59115	0.852	T	0.37197	-0.9716	10	0.72032	D	0.01	-28.2524	19.2867	0.94077	0.0:1.0:0.0:0.0	.	245	P01210	PENK_HUMAN	K	245	ENSP00000324248:E245K;ENSP00000400894:E245K	ENSP00000324248:E245K	E	-	1	0	PENK	57516456	1.000000	0.71417	0.969000	0.41365	0.770000	0.43624	6.223000	0.72257	2.793000	0.96121	0.655000	0.94253	GAA		0.498	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			23	86	0	0	0	1	0	23	86				
ARAP3	64411	broad.mit.edu	37	5	141041612	141041612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr5:141041612delG	ENST00000239440.4	-	20	3076	c.3011delC	c.(3010-3012)gctfs	p.A1004fs	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Frame_Shift_Del_p.A666fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1004	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A1004V(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGAATACCAGCAGCCTCCCT	0.577																																						uc003llm.3																			1	Substitution - Missense(1)	p.A1004V(2)|p.A1004S(1)	large_intestine(1)	NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3010-3012)gctfs		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							81.0	74.0	76.0					5																	141041612		2203	4300	6503	SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr5:141041612delG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3011delC	5.37:g.141041612delG	ENSP00000239440:p.Ala1004fs		Somatic				ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Frame_Shift_Del_p.A666fs|ARAP3_uc003lln.3_Intron	p.A1004fs	NM_022481	NP_071926	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			19	3089	-			1004			Rho-GAP.		B4DIT1|D3DQE3	Frame_Shift_Del	DEL	ENST00000239440.4	37	c.3011delC	CCDS4266.1																																																																																				0.577	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		38	30						38	30	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141041612	141041612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr5:141041612delG	ENST00000239440.4	-	20	3076	c.3011delC	c.(3010-3012)gctfs	p.A1004fs	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Frame_Shift_Del_p.A666fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1004	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A1004V(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGAATACCAGCAGCCTCCCT	0.577																																						uc003llm.3																			1	Substitution - Missense(1)	p.A1004V(2)|p.A1004S(1)	large_intestine(1)	NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3010-3012)gctfs		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							81.0	74.0	76.0					5																	141041612		2203	4300	6503	SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr5:141041612delG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3011delC	5.37:g.141041612delG	ENSP00000239440:p.Ala1004fs		Somatic				ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Frame_Shift_Del_p.A666fs|ARAP3_uc003lln.3_Intron	p.A1004fs	NM_022481	NP_071926	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			19	3089	-			1004			Rho-GAP.		B4DIT1|D3DQE3	Frame_Shift_Del	DEL	ENST00000239440.4	37	c.3011delC	CCDS4266.1																																																																																				0.577	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		38	30						38	30	---	---	---	---
