#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
DNAH5	1767	broad.mit.edu	37	5	13788939	13788939	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:13788939T>C	ENST00000265104.4	-	51	8637	c.8533A>G	c.(8533-8535)Aag>Gag	p.K2845E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2845					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTAAAGCCTTATCAAACCAG	0.398									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8533-8535)Aag>Gag		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							125.0	118.0	120.0					5																	13788939		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13788939T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8533A>G	5.37:g.13788939T>C	ENSP00000265104:p.Lys2845Glu		Somatic					p.K2845E	NM_001369	NP_001360	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			50	8575	-	Lung NSC(4;0.00476)		2845					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8533A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	8.902	0.956523	0.18507	.	.	ENSG00000039139	ENST00000265104	T	0.38240	1.15	6.06	3.59	0.41128	.	0.443861	0.25994	N	0.026994	T	0.22704	0.0548	L	0.39020	1.185	0.18873	N	0.999987	B	0.02656	0.0	B	0.06405	0.002	T	0.19095	-1.0316	10	0.12766	T	0.61	.	6.385	0.21556	0.1444:0.143:0.0:0.7125	.	2845	Q8TE73	DYH5_HUMAN	E	2845	ENSP00000265104:K2845E	ENSP00000265104:K2845E	K	-	1	0	DNAH5	13841939	0.003000	0.15002	1.000000	0.80357	0.998000	0.95712	-0.033000	0.12246	1.126000	0.42016	0.533000	0.62120	AAG		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		3	141	0	0	0	1	0	3	141				
DEFB119	245932	broad.mit.edu	37	20	29976952	29976952	+	Intron	SNP	C	C	T	rs372464953		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:29976952C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376315.2_Missense_Mutation_p.R48Q|DEFB119_ENST00000492344.1_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AACACAGCACCGTTTACGATT	0.458																																						uc002wvu.1																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(142-144)cGg>cAg		Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.		C	,GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	203.0	174.0	184.0		,143,	2.5	0.4	20		184	0,8600		0,0,4300	no	intron,missense,intron	DEFB119	NM_153289.2,NM_153323.3,NM_173460.1	,43,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,48/89,	29976952	1,13005	2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29976952C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1273G>A	20.37:g.29976952C>T			Somatic				DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	p.R48Q	NM_153323	NP_697018	WXS	Illumina GAIIx	Phase_I	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	263	-	all_hematologic(12;0.158)		54					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.143G>A	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709823	0.89018	2.27E-4	0.0	ENSG00000180483	ENST00000376315	T	0.11495	2.77	3.49	2.53	0.30540	.	1.825100	0.03092	N	0.159957	T	0.19725	0.0474	.	.	.	0.09310	N	0.999999	D	0.69078	0.997	P	0.52309	0.695	T	0.11421	-1.0588	9	0.87932	D	0	-4.3313	6.1	0.20041	0.0:0.8559:0.0:0.1441	.	48	Q8N690-2	.	Q	48	ENSP00000365492:R48Q	ENSP00000365492:R48Q	R	-	2	0	DEFB119	29440613	0.624000	0.27102	0.436000	0.26797	0.980000	0.70556	1.484000	0.35508	1.024000	0.39682	0.563000	0.77884	CGG		0.458	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		3	151	0	0	0	1	0	3	151				
LANCL2	55915	broad.mit.edu	37	7	55479606	55479606	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr7:55479606G>A	ENST00000254770.2	+	6	1410	c.832G>A	c.(832-834)Gca>Aca	p.A278T		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	278					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AAAGCCGGCAGCAAAAGTGGA	0.348																																						uc003tqp.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(832-834)Gca>Aca		Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.							56.0	61.0	59.0					7																	55479606		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55479606G>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.832G>A	7.37:g.55479606G>A	ENSP00000254770:p.Ala278Thr		Somatic					p.A278T	NM_018697	NP_061167	WXS	Illumina GAIIx	Phase_I	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		5	1410	+	Breast(14;0.0379)		278					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.832G>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330127	0.41297	.	.	ENSG00000132434	ENST00000254770	T	0.42513	0.97	5.81	4.86	0.63082	Six-hairpin glycosidase-like (1);	0.162599	0.56097	D	0.000040	T	0.33265	0.0857	L	0.39397	1.21	0.54753	D	0.999989	B	0.16802	0.019	B	0.26614	0.071	T	0.07083	-1.0791	10	0.09843	T	0.71	.	13.18	0.59649	0.0:0.0:0.7554:0.2446	.	278	Q9NS86	LANC2_HUMAN	T	278	ENSP00000254770:A278T	ENSP00000254770:A278T	A	+	1	0	LANCL2	55447100	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.644000	0.54381	2.734000	0.93682	0.650000	0.86243	GCA		0.348	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		3	93	0	0	0	1	0	3	93				
WRAP53	55135	broad.mit.edu	37	17	7604998	7604998	+	Silent	SNP	G	G	A	rs34740153		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:7604998G>A	ENST00000316024.5	+	6	3194	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WRAP53_ENST00000534050.1_Silent_p.S249S|WRAP53_ENST00000431639.2_Silent_p.S282S|WRAP53_ENST00000457584.2_Silent_p.S282S|WRAP53_ENST00000396463.2_Silent_p.S282S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	282					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGCCCATTCGCTCTGCTTCT	0.622																																						uc010vuh.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(844-846)tcG>tcA		Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.		G	,,,	1,4405	4.2+/-10.8	0,1,2202	92.0	83.0	86.0		846,846,846,846	-8.8	1.0	17	dbSNP_126	86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WRAP53	NM_001143990.1,NM_001143991.1,NM_001143992.1,NM_018081.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	282/549,282/549,282/549,282/549	7604998	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding	g.chr17:7604998G>A	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.846G>A	17.37:g.7604998G>A			Somatic				WRAP53_uc010vui.2_Silent_p.S282S|WRAP53_uc002gip.3_Silent_p.S282S|WRAP53_uc002gir.3_Silent_p.S282S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S249S|WRAP53_uc010vuj.2_Silent_p.S63S	p.S282S	NM_001143990	NP_060551	WXS	Illumina GAIIx	Phase_I	Q9BUR4	WAP53_HUMAN			6	1001	+			282					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.846G>A	CCDS11119.1																																																																																				0.622	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		24	28	0	0	0	1	0	24	28				
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000536719.1_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	uc001mor.3																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.							262.0	254.0	257.0					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg		Somatic					p.K265R	NM_006292	NP_006283	WXS	Illumina GAIIx	Phase_I	Q99816	TS101_HUMAN			7	934	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		4	428	0	0	0	1	0	4	428				
IQSEC2	23096	broad.mit.edu	37	X	53268422	53268422	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:53268422A>T	ENST00000375368.5	-	10	3240	c.3040T>A	c.(3040-3042)Tct>Act	p.S1014T	IQSEC2_ENST00000375365.2_Missense_Mutation_p.S819T|IQSEC2_ENST00000396435.3_Missense_Mutation_p.S1024T			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1014	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGGGGAAAGACTGACGGAAA	0.512											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dsd.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(3070-3072)Tct>Act		Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.							113.0	103.0	106.0					X																	53268422		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53268422A>T	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3040T>A	X.37:g.53268422A>T	ENSP00000364517:p.Ser1014Thr		Somatic	OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	IQSEC2_uc004dsc.3_Missense_Mutation_p.S819T	p.S1024T	NM_001111125	NP_001104595	WXS	Illumina GAIIx	Phase_I	Q5JU85	IQEC2_HUMAN			10	3271	-			1014			PH.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.3070T>A		.	.	.	.	.	.	.	.	.	.	A	23.8	4.457935	0.84317	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.54866	0.55;0.55;0.55	5.61	5.61	0.85477	.	0.113988	0.64402	D	0.000009	T	0.64972	0.2647	M	0.62088	1.915	0.53688	D	0.999979	B;P	0.49447	0.184;0.924	B;P	0.61533	0.107;0.89	T	0.66646	-0.5871	10	0.52906	T	0.07	.	9.568	0.39411	0.8408:0.0:0.0:0.1592	.	1024;819	Q5JU85-2;Q5JU85-3	.;.	T	1024;1014;819	ENSP00000379712:S1024T;ENSP00000364517:S1014T;ENSP00000364514:S819T	ENSP00000364514:S819T	S	-	1	0	IQSEC2	53285147	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.614000	0.54160	1.888000	0.54679	0.416000	0.27883	TCT		0.512	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		23	41	0	0	0	1	0	23	41				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	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		95	118	0	0	0	1	0	95	118				
PDE5A	8654	broad.mit.edu	37	4	120442128	120442128	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:120442128G>T	ENST00000354960.3	-	13	2186	c.1867C>A	c.(1867-1869)Cag>Aag	p.Q623K	PDE5A_ENST00000512739.1_5'Flank|PDE5A_ENST00000394439.1_Missense_Mutation_p.Q571K|PDE5A_ENST00000264805.5_Missense_Mutation_p.Q581K|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	623	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AACATGCACTGAGCTGTATTA	0.333																																						uc003idh.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1867-1869)Cag>Aag		Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						134.0	136.0	136.0					4																	120442128		2202	4300	6502	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120442128G>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1867C>A	4.37:g.120442128G>T	ENSP00000347046:p.Gln623Lys		Somatic				PDE5A_uc003idf.3_Missense_Mutation_p.Q581K|PDE5A_uc003idg.3_Missense_Mutation_p.Q571K|AF085995_uc003idi.4_Intron	p.Q623K	NM_001083	NP_246273	WXS	Illumina GAIIx	Phase_I	O76074	PDE5A_HUMAN			12	2022	-			623			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1867C>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458570	0.96240	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.83506	-1.73;-1.73;-1.73	5.93	5.93	0.95920	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.052762	0.85682	D	0.000000	D	0.94981	0.8376	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.973	D	0.95979	0.8976	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	623;581	O76074;O76074-2	PDE5A_HUMAN;.	K	623;571;581	ENSP00000347046:Q623K;ENSP00000377957:Q571K;ENSP00000264805:Q581K	ENSP00000264805:Q581K	Q	-	1	0	PDE5A	120661576	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CAG		0.333	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		5	227	0	0	0	1	0	5	227				
XPOT	11260	broad.mit.edu	37	12	64812808	64812808	+	Silent	SNP	C	C	G			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr12:64812808C>G	ENST00000332707.5	+	6	952	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	141	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.L141L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAGTAGATCTCTACCTGCGAA	0.398																																						uc001ssb.3																			1	Substitution - coding silent(1)	p.L141L(2)	kidney(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(421-423)ctC>ctG		Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.							129.0	128.0	128.0					12																	64812808		2203	4300	6503	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812808C>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.423C>G	12.37:g.64812808C>G			Somatic				XPOT_uc009zqm.2_Silent_p.L51L	p.L141L	NM_007235	NP_009166	WXS	Illumina GAIIx	Phase_I	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	5	929	+			141			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.423C>G	CCDS31852.1																																																																																				0.398	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		4	147	0	0	0	1	0	4	147				
MYO15A	51168	broad.mit.edu	37	17	18023164	18023164	+	Silent	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:18023164C>T	ENST00000205890.5	+	2	1388	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	350					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCCGTACGACGCGCCATACC	0.607																																						uc021trm.1																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1048-1050)gaC>gaT		Homo sapiens myosin XVA (MYO15A), mRNA.							82.0	93.0	89.0					17																	18023164		2034	4177	6211	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:18023164C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1050C>T	17.37:g.18023164C>T			Somatic				MYO15A_uc021trl.1_Silent_p.D350D	p.D350D	NM_016239	NP_057323	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			0	1269	+	all_neural(463;0.228)		350			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.1050C>T	CCDS42271.1																																																																																				0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		10	180	0	0	0	1	0	10	180				
HAUS6	54801	broad.mit.edu	37	9	19058159	19058159	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:19058159G>A	ENST00000380502.3	-	16	3073	c.2606C>T	c.(2605-2607)aCt>aTt	p.T869I	HAUS6_ENST00000380496.1_Missense_Mutation_p.T733I	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	869					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTTGGGGAGTAGGGCTCAA	0.423																																						uc003znk.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2605-2607)aCt>aTt		Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.							198.0	193.0	195.0					9																	19058159		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle		g.chr9:19058159G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2606C>T	9.37:g.19058159G>A	ENSP00000369871:p.Thr869Ile		Somatic				HAUS6_uc011lmz.2_Missense_Mutation_p.T589I|HAUS6_uc022bdv.1_Missense_Mutation_p.T733I|HAUS6_uc003znl.1_Missense_Mutation_p.T733I	p.T869I	NM_017645	NP_060115	WXS	Illumina GAIIx	Phase_I	Q7Z4H7	HAUS6_HUMAN			15	2859	-			869					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.2606C>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	4.332	0.060946	0.08339	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.27890	1.64;1.65	5.8	3.54	0.40534	.	0.762218	0.12580	N	0.456489	T	0.21509	0.0518	L	0.31664	0.95	0.09310	N	1	P;P;P	0.49358	0.923;0.923;0.923	B;B;B	0.42087	0.375;0.375;0.375	T	0.06534	-1.0821	10	0.32370	T	0.25	0.0217	6.4407	0.21849	0.189:0.0:0.6736:0.1374	.	834;733;869	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	I	869;733	ENSP00000369871:T869I;ENSP00000369865:T733I	ENSP00000369865:T733I	T	-	2	0	HAUS6	19048159	0.000000	0.05858	0.003000	0.11579	0.196000	0.23810	0.389000	0.20751	0.518000	0.28383	0.467000	0.42956	ACT		0.423	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		4	228	0	0	0	1	0	4	228				
ADAMTS3	9508	broad.mit.edu	37	4	73178108	73178108	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:73178108T>A	ENST00000286657.4	-	13	1857	c.1821A>T	c.(1819-1821)aaA>aaT	p.K607N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	607					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTCAAAGTGTTTTTGGCATT	0.423																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1819-1821)aaA>aaT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.							183.0	157.0	166.0					4																	73178108		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73178108T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1821A>T	4.37:g.73178108T>A	ENSP00000286657:p.Lys607Asn		Somatic				ADAMTS3_uc003hgl.3_5'Flank	p.K607N	NM_014243	NP_055058	WXS	Illumina GAIIx	Phase_I	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1858	-			607					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1821A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661415	0.29515	.	.	ENSG00000156140	ENST00000286657	T	0.68331	-0.32	5.98	-4.05	0.03998	.	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	N	0.16478	0.41	0.45718	D	0.998629	P	0.45428	0.858	P	0.46452	0.517	T	0.50800	-0.8785	10	0.25106	T	0.35	.	15.8621	0.79032	0.0:0.69:0.0:0.31	.	607	O15072	ATS3_HUMAN	N	607	ENSP00000286657:K607N	ENSP00000286657:K607N	K	-	3	2	ADAMTS3	73396972	0.987000	0.35691	0.924000	0.36721	0.991000	0.79684	0.367000	0.20382	-0.562000	0.06086	-0.326000	0.08463	AAA		0.423	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			4	96	0	0	0	1	0	4	96				
RAB39B	116442	broad.mit.edu	37	X	154490295	154490295	+	Silent	SNP	G	G	A	rs376181426		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:154490295G>A	ENST00000369454.3	-	2	735	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	145					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTCATGCCGTATGCAGCAG	0.498																																						uc004fne.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(433-435)taC>taT		Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.		G		1,3834		0,1,1631,571	113.0	94.0	100.0		435	0.3	1.0	X		100	0,6728		0,0,2428,1872	no	coding-synonymous	RAB39B	NM_171998.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		145/214	154490295	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490295G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.435C>T	X.37:g.154490295G>A			Somatic					p.Y145Y	NM_171998	NP_741995	WXS	Illumina GAIIx	Phase_I	Q96DA2	RB39B_HUMAN			1	714	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		145					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.435C>T	CCDS14766.1																																																																																				0.498	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		4	96	0	0	0	1	0	4	96				
AMDHD1	144193	broad.mit.edu	37	12	96354366	96354366	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr12:96354366C>T	ENST00000266736.2	+	5	884	c.778C>T	c.(778-780)Cat>Tat	p.H260Y		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	260					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GATTAACTTCCATGGGGATGA	0.423																																						uc001tel.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(778-780)Cat>Tat		Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.							104.0	101.0	102.0					12																	96354366		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96354366C>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.778C>T	12.37:g.96354366C>T	ENSP00000266736:p.His260Tyr		Somatic				AMDHD1_uc009zth.2_Missense_Mutation_p.H151Y	p.H260Y	NM_152435	NP_689648	WXS	Illumina GAIIx	Phase_I	Q96NU7	HUTI_HUMAN			4	884	+			260					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.778C>T	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644972	0.87859	.	.	ENSG00000139344	ENST00000266736	D	0.83591	-1.74	5.55	5.55	0.83447	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96698	0.9516	10	0.87932	D	0	-2.0925	19.8741	0.96863	0.0:1.0:0.0:0.0	.	260	Q96NU7	HUTI_HUMAN	Y	260	ENSP00000266736:H260Y	ENSP00000266736:H260Y	H	+	1	0	AMDHD1	94878497	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.166000	0.77553	2.761000	0.94854	0.655000	0.94253	CAT		0.423	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		11	125	0	0	0	1	0	11	125				
MYOM1	8736	broad.mit.edu	37	18	3187546	3187546	+	Silent	SNP	C	C	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr18:3187546C>A	ENST00000356443.4	-	5	1194	c.861G>T	c.(859-861)acG>acT	p.T287T	MYOM1_ENST00000400569.3_Silent_p.T287T|MYOM1_ENST00000261606.7_Silent_p.T287T|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	287	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTCCCAAACCGTGTGGGAGC	0.428																																						uc002klp.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(859-861)acG>acT		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							138.0	132.0	134.0					18																	3187546		1972	4149	6121	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3187546C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.861G>T	18.37:g.3187546C>A			Somatic				MYOM1_uc002klq.3_Silent_p.T287T	p.T287T	NM_003803	NP_003794	WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			4	1195	-			287			Ig-like C2-type 1.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.861G>T	CCDS45824.1																																																																																				0.428	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	127	0	0	0	1	0	5	127				
C5	727	broad.mit.edu	37	9	123725972	123725972	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:123725972G>A	ENST00000223642.1	-	34	4294	c.4265C>T	c.(4264-4266)gCg>gTg	p.A1422V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1422					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GTCCATCACCGCATGAGAGGA	0.358																																						uc004bkv.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4264-4266)gCg>gTg		Homo sapiens complement component 5 (C5), mRNA.	Eculizumab(DB01257)						79.0	75.0	76.0					9																	123725972		2203	4300	6503	SO:0001583	missense	727				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123725972G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4265C>T	9.37:g.123725972G>A	ENSP00000223642:p.Ala1422Val		Somatic					p.A1422V	NM_001735	NP_001726	WXS	Illumina GAIIx	Phase_I	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	33	4295	-			1422					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4265C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844586	0.51164	.	.	ENSG00000106804	ENST00000223642	T	0.29142	1.58	5.33	4.43	0.53597	Alpha-macroglobulin, receptor-binding (3);	0.408843	0.29253	N	0.012695	T	0.24236	0.0587	L	0.42632	1.34	0.36848	D	0.887737	P	0.46784	0.884	B	0.38156	0.266	T	0.21484	-1.0244	10	0.54805	T	0.06	.	9.8198	0.40876	0.0945:0.0:0.9055:0.0	.	1422	P01031	CO5_HUMAN	V	1422	ENSP00000223642:A1422V	ENSP00000223642:A1422V	A	-	2	0	C5	122765793	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	3.301000	0.51842	1.254000	0.44035	0.655000	0.94253	GCG		0.358	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		3	79	0	0	0	1	0	3	79				
COL5A3	50509	broad.mit.edu	37	19	10114264	10114264	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr19:10114264G>T	ENST00000264828.3	-	6	911	c.826C>A	c.(826-828)Cct>Act	p.P276T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	276	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGTCAGGAGGTGGACTTGAG	0.557											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(826-828)Cct>Act		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.							247.0	187.0	207.0					19																	10114264		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114264G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.826C>A	19.37:g.10114264G>T	ENSP00000264828:p.Pro276Thr		Somatic	OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662		p.P276T	NM_015719	NP_056534	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		5	912	-			276			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.826C>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	6.728	0.503062	0.12822	.	.	ENSG00000080573	ENST00000264828	D	0.88818	-2.43	3.86	-1.9	0.07665	.	3.506420	0.00827	N	0.001625	T	0.75140	0.3809	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65792	-0.6082	10	0.12430	T	0.62	.	5.7308	0.18038	0.1046:0.0:0.3522:0.5432	.	276	P25940	CO5A3_HUMAN	T	276	ENSP00000264828:P276T	ENSP00000264828:P276T	P	-	1	0	COL5A3	9975264	0.002000	0.14202	0.002000	0.10522	0.366000	0.29705	-0.344000	0.07780	-0.332000	0.08489	0.456000	0.33151	CCT		0.557	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		8	107	0	0	0	1	0	8	107				
ZNFX1	57169	broad.mit.edu	37	20	47865945	47865945	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:47865945C>G	ENST00000396105.1	-	14	3862	c.3616G>C	c.(3616-3618)Ggc>Cgc	p.G1206R	ZNFX1_ENST00000371752.1_Missense_Mutation_p.G1206R|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1206							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCACCTTGCCTTCTTGGTTG	0.522																																						uc002xui.3																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3616-3618)Ggc>Cgc		Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.							172.0	153.0	159.0					20																	47865945		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865945C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3616G>C	20.37:g.47865945C>G	ENSP00000379412:p.Gly1206Arg		Somatic					p.G1206R	NM_021035	NP_066363	WXS	Illumina GAIIx	Phase_I	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		13	3863	-			1206					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3616G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495035	0.44352	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.82433	-1.61;-1.61	6.03	6.03	0.97812	.	0.117723	0.64402	D	0.000020	T	0.79907	0.4527	L	0.42529	1.33	0.58432	D	0.999998	B	0.29508	0.246	B	0.33254	0.16	T	0.73836	-0.3857	10	0.18276	T	0.48	-23.7063	19.1207	0.93362	0.0:1.0:0.0:0.0	.	1206	Q9P2E3	ZNFX1_HUMAN	R	1206	ENSP00000360817:G1206R;ENSP00000379412:G1206R	ENSP00000360817:G1206R	G	-	1	0	ZNFX1	47299352	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.864000	0.62990	2.861000	0.98227	0.655000	0.94253	GGC		0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	205	0	0	0	1	0	4	205				
UTP3	57050	broad.mit.edu	37	4	71555625	71555625	+	Missense_Mutation	SNP	A	A	G	rs376767606		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:71555625A>G	ENST00000254803.2	+	1	1430	c.1231A>G	c.(1231-1233)Att>Gtt	p.I411V		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	411					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAAGAGAGCTATTACCTATCA	0.373																																						uc003hfo.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(1231-1233)Att>Gtt		Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.							75.0	81.0	79.0					4																	71555625		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555625A>G	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1231A>G	4.37:g.71555625A>G	ENSP00000254803:p.Ile411Val		Somatic					p.I411V	NM_020368	NP_065101	WXS	Illumina GAIIx	Phase_I	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		0	1430	+			411					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.1231A>G	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975609	0.53720	.	.	ENSG00000132467	ENST00000254803	T	0.45276	0.9	5.46	5.46	0.80206	Something about silencing protein 10 (Sas10), C-terminal (1);	0.052709	0.85682	D	0.000000	T	0.53594	0.1806	M	0.67953	2.075	0.48762	D	0.9997	D	0.55605	0.972	P	0.58577	0.841	T	0.53732	-0.8397	10	0.37606	T	0.19	-8.2243	8.511	0.33217	0.8848:0.0:0.1152:0.0	.	411	Q9NQZ2	SAS10_HUMAN	V	411	ENSP00000254803:I411V	ENSP00000254803:I411V	I	+	1	0	UTP3	71774489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.232000	0.43018	2.191000	0.70037	0.533000	0.62120	ATT		0.373	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		49	55	0	0	0	1	0	49	55				
ANXA7	310	broad.mit.edu	37	10	75156277	75156277	+	Splice_Site	SNP	C	C	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr10:75156277C>A	ENST00000372921.5	-	5	491	c.435G>T	c.(433-435)caG>caT	p.Q145H	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Splice_Site_p.Q15H	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	145					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					AACAAAATACCTGACTAGGGT	0.418																																						uc001jtz.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26						c.e5+1		Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.							69.0	66.0	67.0					10																	75156277		2203	4300	6503	SO:0001630	splice_region_variant	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75156277C>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.435+1G>T	10.37:g.75156277C>A			Somatic				ANXA7_uc001jua.2_Splice_Site_p.Q145_splice|ANXA7_uc010qki.1_Splice_Site_p.Q55_splice|ANXA7_uc009xre.3_Splice_Site_p.Q74_splice|ANXA7_uc009xrf.1_Splice_Site_p.Q87_splice	p.Q145_splice	NM_004034	NP_004025	WXS	Illumina GAIIx	Phase_I	P20073	ANXA7_HUMAN			5	508	-	Prostate(51;0.0119)		145					Q5F2H3|Q5T0M6|Q5T0M7	Splice_Site	SNP	ENST00000372921.5	37	c.435_splice	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903893	0.52333	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.04862	3.54;4.42;3.54	5.48	4.57	0.56435	.	2.499150	0.01058	N	0.004597	T	0.12263	0.0298	N	0.08118	0	0.25069	N	0.991005	D;D;D;D;D	0.76494	0.997;0.997;0.98;0.996;0.999	P;P;P;D;D	0.69142	0.878;0.825;0.73;0.937;0.962	T	0.48636	-0.9018	9	.	.	.	.	10.4031	0.44241	0.0:0.9094:0.0:0.0906	.	145;145;72;145;145	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	H	145;145;15	ENSP00000362012:Q145H;ENSP00000362010:Q145H;ENSP00000442864:Q15H	.	Q	-	3	2	ANXA7	74826283	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.505000	0.53356	1.439000	0.47511	0.650000	0.86243	CAG		0.418	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156	Missense_Mutation	3	62	0	0	0	1	0	3	62				
OTOP3	347741	broad.mit.edu	37	17	72945406	72945406	+	Nonsense_Mutation	SNP	C	C	A	rs562755377		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:72945406C>A	ENST00000328801.4	+	7	1686	c.1686C>A	c.(1684-1686)taC>taA	p.Y562*		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	562						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGATTTCTACGGCTACCAGA	0.567																																						uc010wrr.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1684-1686)taC>taA		Homo sapiens otopetrin 3 (OTOP3), mRNA.							84.0	80.0	81.0					17																	72945406		2203	4300	6503	SO:0001587	stop_gained	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72945406C>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1686C>A	17.37:g.72945406C>A	ENSP00000328090:p.Tyr562*		Somatic				OTOP3_uc010wrq.2_Nonsense_Mutation_p.Y544*	p.Y562*	NM_178233	NP_839947	WXS	Illumina GAIIx	Phase_I	Q7RTS5	OTOP3_HUMAN			6	1686	+	all_lung(278;0.151)|Lung NSC(278;0.185)		562						Nonsense_Mutation	SNP	ENST00000328801.4	37	c.1686C>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774400	0.90108	.	.	ENSG00000182938	ENST00000328801	.	.	.	4.28	-2.74	0.05932	.	0.086498	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9095	12.3382	0.55079	0.0:0.5365:0.0:0.4635	.	.	.	.	X	562	.	ENSP00000328090:Y562X	Y	+	3	2	OTOP3	70457001	0.020000	0.18652	0.991000	0.47740	0.900000	0.52787	-0.763000	0.04740	-0.576000	0.05974	0.313000	0.20887	TAC		0.567	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		3	125	0	0	0	1	0	3	125				
PCDHA6	56142	broad.mit.edu	37	5	140209347	140209347	+	Silent	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:140209347C>T	ENST00000529310.1	+	1	1785	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687																																						uc003lho.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1669-1671)gaC>gaT		Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.							69.0	76.0	73.0					5																	140209347		2202	4299	6501	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140209347C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1671C>T	5.37:g.140209347C>T			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.D557D	p.D557D	NM_018909	NP_061732	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1698	+			571			Cadherin 5.		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1671C>T	CCDS47281.1																																																																																				0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		4	133	0	0	0	1	0	4	133				
PHLDB1	23187	broad.mit.edu	37	11	118512834	118512834	+	Intron	DEL	T	T	-			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr11:118512834delT	ENST00000361417.2	+	14	3147				PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000524713.1_Intron|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTGGCCTTCCTTTTTAAcctt	0.473																																						uc010ryj.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(13-15)tttfs		Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 2, mRNA.																																				SO:0001627	intron_variant	23187							g.chr11:118512834delT		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2737-138T>-	11.37:g.118512834delT			Somatic				PHLDB1_uc001ptr.2_Intron|PHLDB1_uc001pts.3_Intron|PHLDB1_uc001ptt.3_Intron|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Intron|PHLDB1_uc001ptw.2_Intron|PHLDB1_uc009zai.2_Intron|PHLDB1_uc001ptx.2_Intron|PHLDB1_uc010ryi.1_Intron	p.F5fs			WXS	Illumina GAIIx	Phase_I	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	0	78	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	0					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Del	DEL	ENST00000361417.2	37	c.13delT	CCDS8401.1																																																																																				0.473	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		2	4						2	4	---	---	---	---
