#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NES	10763	broad.mit.edu	37	1	156642067	156642067	+	Missense_Mutation	SNP	G	G	T	rs148672848		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr1:156642067G>T	ENST00000368223.3	-	4	2045	c.1913C>A	c.(1912-1914)tCt>tAt	p.S638Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	638	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTTCAAGAGATTTCATTAG	0.393																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1912-1914)tCt>tAt		nestin							74.0	75.0	74.0					1																	156642067		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642067G>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1913C>A	1.37:g.156642067G>T	ENSP00000357206:p.Ser638Tyr		Somatic					p.S638Y	NM_006617.1	NP_006608.1	WXS	Illumina GAIIx	Phase_I	P48681	NEST_HUMAN			4	2045	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		638			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1913C>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757682	0.69648	.	.	ENSG00000132688	ENST00000368223	D	0.87966	-2.32	4.87	2.68	0.31781	.	0.000000	0.32328	N	0.006256	T	0.81692	0.4876	M	0.76328	2.33	0.09310	N	0.999999	D	0.56968	0.978	P	0.52267	0.694	T	0.74711	-0.3573	10	0.48119	T	0.1	.	2.1467	0.03789	0.1141:0.1964:0.4855:0.2039	.	638	P48681	NEST_HUMAN	Y	638	ENSP00000357206:S638Y	ENSP00000357206:S638Y	S	-	2	0	NES	154908691	0.002000	0.14202	0.304000	0.25085	0.596000	0.36781	0.447000	0.21710	2.254000	0.74563	0.467000	0.42956	TCT		0.393	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		4	75	4	75	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230272041	230272041	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr2:230272041T>G	ENST00000341772.4	-	10	1764	c.1630A>C	c.(1630-1632)Aag>Cag	p.K544Q		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	544	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGGATCCTTGTACAATTCA	0.542																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1630-1632)Aag>Cag		delta/notch-like EGF repeat containing							115.0	97.0	103.0					2																	230272041		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230272041T>G	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1630A>C	2.37:g.230272041T>G	ENSP00000345229:p.Lys544Gln		Somatic					p.K544Q	NM_139072.3	NP_620711.3	WXS	Illumina GAIIx	Phase_I	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1764	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	544			EGF-like 9.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1630A>C	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533049	0.45073	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.87256	-2.23	5.6	5.6	0.85130	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	L	0.33485	1.01	0.58432	D	0.99999	P	0.38020	0.615	B	0.37091	0.241	D	0.83964	0.0323	10	0.66056	D	0.02	.	14.7645	0.69629	0.0:0.0:0.0:1.0	.	544	Q8NFT8	DNER_HUMAN	Q	544;262	ENSP00000345229:K544Q	ENSP00000345229:K544Q	K	-	1	0	DNER	229980285	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.209000	0.58493	2.135000	0.66039	0.460000	0.39030	AAG		0.542	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		4	69	4	69	---	---	---	---
CCNL1	57018	broad.mit.edu	37	3	156866322	156866322	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:156866322G>A	ENST00000295926.3	-	11	1407	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	CCNL1_ENST00000461804.1_Intron|CCNL1_ENST00000479052.1_5'Flank	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	430	RS.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GTGACTGCGGGACCTGCTTCT	0.408																																						ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(1288-1290)tCc>tTc		cyclin L1							158.0	159.0	159.0					3																	156866322		2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866322G>A	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1289C>T	3.37:g.156866322G>A	ENSP00000295926:p.Ser430Phe		Somatic				CCNL1_ENST00000461804.1_Intron	p.S430F	NM_020307.2	NP_064703.1	WXS	Illumina GAIIx	Phase_I	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	1407	-			430			RS.		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.1289C>T	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618954	0.87460	.	.	ENSG00000163660	ENST00000295926	T	0.45276	0.9	5.27	5.27	0.74061	.	0.103283	0.64402	D	0.000002	T	0.65059	0.2655	M	0.66297	2.02	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.66826	-0.5825	10	0.66056	D	0.02	-10.4214	19.263	0.93975	0.0:0.0:1.0:0.0	.	430	Q9UK58	CCNL1_HUMAN	F	430	ENSP00000295926:S430F	ENSP00000295926:S430F	S	-	2	0	CCNL1	158349016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.500000	0.90498	2.612000	0.88384	0.557000	0.71058	TCC		0.408	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		4	111	4	111	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186954037	186954037	+	Intron	SNP	A	A	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:186954037A>G	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000296280.6_Missense_Mutation_p.L541P	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTCTGGGTGGAGCACCACTCG	0.572																																						ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1621-1623)cTc>cCc		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							81.0	75.0	77.0					3																	186954037		2203	4300	6503	SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186954037A>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5231T>C	3.37:g.186954037A>G			Somatic				MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR	p.L541P	NM_139125.3	NP_624302.1	WXS	Illumina GAIIx	Phase_I	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1847	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		540			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1622T>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287444	0.59976	.	.	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541896	D;D	0.93133	-3.17;-3.17	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	N	0.10945	0.07	0.80722	D	1	B;B	0.27971	0.196;0.079	B;B	0.33339	0.162;0.099	D	0.85995	0.1491	10	0.51188	T	0.08	.	15.6032	0.76642	1.0:0.0:0.0:0.0	.	428;541	P48740-4;P48740-2	.;.	P	541;428;428	ENSP00000296280:L541P;ENSP00000376264:L428P	ENSP00000296280:L541P	L	-	2	0	MASP1	188436731	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.270000	0.95690	2.270000	0.75569	0.533000	0.62120	CTC		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		3	41	3	41	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13700934	13700934	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr5:13700934A>C	ENST00000265104.4	-	78	13642	c.13538T>G	c.(13537-13539)cTt>cGt	p.L4513R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4513					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)					TTCATTGCAAAGCACCATATT	0.473									Kartagener syndrome																													ENST00000265104.4																			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.(13537-13539)cTt>cGt		dynein, axonemal, heavy chain 5							158.0	147.0	150.0					5																	13700934		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.chr5:13700934A>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.13538T>G	5.37:g.13700934A>C	ENSP00000265104:p.Leu4513Arg		Somatic					p.L4513R	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			78	13642	-	Lung NSC(4;0.00476)		4513					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13538T>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816079	0.90790	.	.	ENSG00000039139	ENST00000265104	T	0.16897	2.31	5.95	5.95	0.96441	Dynein heavy chain (1);	0.068324	0.64402	D	0.000012	T	0.56485	0.1988	H	0.96269	3.795	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.71550	-0.4559	10	0.87932	D	0	.	16.4323	0.83853	1.0:0.0:0.0:0.0	.	4513	Q8TE73	DYH5_HUMAN	R	4513	ENSP00000265104:L4513R	ENSP00000265104:L4513R	L	-	2	0	DNAH5	13753934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.282000	0.95840	2.281000	0.76405	0.528000	0.53228	CTT		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		20	136	20	136	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86333756	86333756	+	Silent	SNP	C	C	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr6:86333756C>A	ENST00000369622.3	-	7	1241	c.741G>T	c.(739-741)gtG>gtT	p.V247V	SYNCRIP_ENST00000355238.6_Silent_p.V247V	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	247	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GAATAGAGCCCACAAAAAGCC	0.358																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(739-741)gtG>gtT		synaptotagmin binding, cytoplasmic RNA interacting protein							98.0	95.0	96.0					6																	86333756		2203	4300	6503	SO:0001819	synonymous_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86333756C>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.741G>T	6.37:g.86333756C>A			Somatic				SYNCRIP_ENST00000369622.3_Silent_p.V247V	p.V247V	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	WXS	Illumina GAIIx	Phase_I	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	7	947	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	247			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Silent	SNP	ENST00000369622.3	37	c.741G>T	CCDS5005.1																																																																																				0.358	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		5	70	5	70	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44553094	44553094	+	Silent	SNP	A	A	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:44553094A>C	ENST00000289547.4	-	20	4087	c.4032T>G	c.(4030-4032)ggT>ggG	p.G1344G	NPC1L1_ENST00000381160.3_Silent_p.G1317G|NPC1L1_ENST00000546276.1_Silent_p.G1271G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1344					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGCACCAGCACCTTTGATAG	0.537																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(4030-4032)ggT>ggG		NPC1-like 1	Ezetimibe(DB00973)						119.0	112.0	115.0					7																	44553094		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44553094A>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.4032T>G	7.37:g.44553094A>C			Somatic				NPC1L1_ENST00000546276.1_Silent_p.G1271G|NPC1L1_ENST00000381160.3_Silent_p.G1317G	p.G1344G	NM_013389.2	NP_037521.2	WXS	Illumina GAIIx	Phase_I	Q9UHC9	NPCL1_HUMAN			20	4087	-			1344					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.4032T>G	CCDS5491.1																																																																																				0.537	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		16	70	16	70	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82430883	82430883	+	Silent	SNP	T	T	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:82430883T>C	ENST00000333891.9	-	22	15295	c.14958A>G	c.(14956-14958)caA>caG	p.Q4986Q		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTACAGGCTCTTGTCCATTCT	0.353																																						ENST00000333891.9																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14956-14958)caA>caG		piccolo presynaptic cytomatrix protein							113.0	109.0	110.0					7																	82430883		1819	4079	5898	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82430883T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14958A>G	7.37:g.82430883T>C			Somatic					p.Q4986Q	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			22	15295	-						C2 2.			Silent	SNP	ENST00000333891.9	37	c.14958A>G	CCDS47630.1																																																																																				0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	70	4	70	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55533943	55533943	+	Silent	SNP	C	C	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr8:55533943C>G	ENST00000220676.1	+	2	565	c.417C>G	c.(415-417)ccC>ccG	p.P139P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	139					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTCACCGCCCCACCCCGTAG	0.697																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(415-417)ccC>ccG		retinitis pigmentosa 1 (autosomal dominant)							27.0	33.0	31.0					8																	55533943		2192	4294	6486	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533943C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.417C>G	8.37:g.55533943C>G			Somatic					p.P139P	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	565	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	139						Silent	SNP	ENST00000220676.1	37	c.417C>G	CCDS6160.1																																																																																				0.697	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	58	5	58	---	---	---	---
DNAJB5	25822	broad.mit.edu	37	9	34993218	34993218	+	5'UTR	SNP	T	T	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr9:34993218T>C	ENST00000541010.1	+	0	3000				DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000454002.2_Silent_p.G68G|DNAJB5_ENST00000453597.3_Silent_p.G110G			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAGTGCTGGTCCAGTGGCTG	0.502																																						ENST00000454002.2																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(202-204)ggT>ggC		DnaJ (Hsp40) homolog, subfamily B, member 5							56.0	62.0	60.0					9																	34993218		2203	4300	6503	SO:0001623	5_prime_UTR_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34993218T>C	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.-13T>C	9.37:g.34993218T>C			Somatic				DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000453597.3_Silent_p.G110G|DNAJB5_ENST00000541010.1_5'UTR	p.G68G	NM_001135005.2	NP_001128477.1	WXS	Illumina GAIIx	Phase_I	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	585	+			0			J.		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.204T>C	CCDS35007.1																																																																																				0.502	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			6	31	6	31	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136642579	136642579	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr9:136642579G>C	ENST00000371850.3	-	23	1928	c.1897C>G	c.(1897-1899)Ctg>Gtg	p.L633V	VAV2_ENST00000371851.1_Missense_Mutation_p.L623V|VAV2_ENST00000406606.3_Missense_Mutation_p.L623V	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	633	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTTTGTACCAGACGACCCTGG	0.572																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1867-1869)Ctg>Gtg		vav 2 guanine nucleotide exchange factor							111.0	106.0	108.0					9																	136642579		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136642579G>C		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1897C>G	9.37:g.136642579G>C	ENSP00000360916:p.Leu633Val		Somatic				VAV2_ENST00000406606.3_Missense_Mutation_p.L623V|VAV2_ENST00000371850.3_Missense_Mutation_p.L633V	p.L623V			WXS	Illumina GAIIx	Phase_I	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	21	2192	-			633			SH3 1.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.1867C>G	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	8.119	0.780473	0.16120	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.06528	3.29;3.29;3.29	4.27	2.21	0.28008	Src homology-3 domain (3);Variant SH3 (1);	0.079753	0.52532	D	0.000079	T	0.07863	0.0197	L	0.48986	1.54	0.49483	D	0.999794	B;P;B	0.44309	0.014;0.832;0.009	B;B;B	0.44224	0.036;0.444;0.022	T	0.41034	-0.9531	10	0.18710	T	0.47	.	11.1869	0.48662	0.1795:0.0:0.8205:0.0	.	623;633;623	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	V	633;623;623;623	ENSP00000360916:L633V;ENSP00000360917:L623V;ENSP00000385362:L623V	ENSP00000317258:L623V	L	-	1	2	VAV2	135632400	1.000000	0.71417	0.983000	0.44433	0.658000	0.38924	1.978000	0.40598	0.998000	0.38996	0.655000	0.94253	CTG		0.572	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			15	88	15	88	---	---	---	---
OR6C76	390326	broad.mit.edu	37	12	55820588	55820588	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr12:55820588T>C	ENST00000328314.3	+	1	551	c.551T>C	c.(550-552)aTc>aCc	p.I184T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGCTGCAAATCTCTTGCACA	0.403																																						ENST00000328314.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(550-552)aTc>aCc		olfactory receptor, family 6, subfamily C, member 76							114.0	105.0	108.0					12																	55820588		2203	4299	6502	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820588T>C		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.551T>C	12.37:g.55820588T>C	ENSP00000328402:p.Ile184Thr		Somatic					p.I184T	NM_001005183.1	NP_001005183.1	WXS	Illumina GAIIx	Phase_I	A6NM76	O6C76_HUMAN			1	551	+			184						Missense_Mutation	SNP	ENST00000328314.3	37	c.551T>C	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	t	18.25	3.581753	0.65992	.	.	ENSG00000185821	ENST00000328314	T	0.00158	8.65	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.145480	0.31123	U	0.008211	T	0.00328	0.0010	M	0.74647	2.275	0.25600	N	0.98661	P	0.49185	0.92	P	0.53266	0.722	T	0.44620	-0.9316	10	0.87932	D	0	.	13.473	0.61292	0.0:0.0:0.0:1.0	.	184	A6NM76	O6C76_HUMAN	T	184	ENSP00000328402:I184T	ENSP00000328402:I184T	I	+	2	0	OR6C76	54106855	0.022000	0.18835	0.363000	0.25875	0.964000	0.63967	1.635000	0.37134	1.907000	0.55213	0.434000	0.28630	ATC		0.403	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		6	70	6	70	---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11941663	11941663	+	Splice_Site	SNP	C	C	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr16:11941663C>A	ENST00000571133.1	-	3	318	c.246G>T	c.(244-246)ttG>ttT	p.L82F	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	82					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GAGGCAAGGTCCTACAAAATA	0.333																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(244-246)ttG>ttT		ribosomal L1 domain containing 1							76.0	70.0	72.0					16																	11941663		2197	4300	6497	SO:0001630	splice_region_variant	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11941663C>A	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.246-1G>T	16.37:g.11941663C>A			Somatic				RSL1D1_ENST00000542106.1_5'UTR	p.L82F	NM_015659.2	NP_056474.2	WXS	Illumina GAIIx	Phase_I	O76021	RL1D1_HUMAN			3	318	-			82					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Splice_Site	SNP	ENST00000571133.1	37	c.246G>T	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733336	0.30684	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.45668	0.89	5.0	-0.712	0.11226	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.261396	0.32918	N	0.005490	T	0.52273	0.1724	M	0.71036	2.16	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.67382	0.951;0.951	T	0.51973	-0.8637	10	0.87932	D	0	.	4.383	0.11304	0.0:0.384:0.1673:0.4487	.	82;82	Q32Q62;O76021	.;RL1D1_HUMAN	F	82	ENSP00000347897:L82F	ENSP00000347897:L82F	L	-	3	2	RSL1D1	11849164	0.805000	0.28982	0.332000	0.25469	0.017000	0.09413	0.239000	0.18023	0.227000	0.20999	0.462000	0.41574	TTG		0.333	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659	Missense_Mutation	6	57	6	57	---	---	---	---
EFCAB13	124989	broad.mit.edu	37	17	45455257	45455257	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr17:45455257A>G	ENST00000331493.2	+	13	1909	c.1498A>G	c.(1498-1500)Act>Gct	p.T500A	EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	500	EF-hand 1.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TGTGACAGACACTAGTAGAAA	0.323																																						ENST00000331493.2																			0											c.(1498-1500)Act>Gct		EF-hand calcium binding domain 13							50.0	54.0	53.0					17																	45455257		2203	4297	6500	SO:0001583	missense	124989							g.chr17:45455257A>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1498A>G	17.37:g.45455257A>G	ENSP00000332111:p.Thr500Ala		Somatic				EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A	p.T500A	NM_152347.4	NP_689560.3	WXS	Illumina GAIIx	Phase_I					13	1909	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1498A>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166689	0.57476	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176;ENST00000523842	T;T;T	0.64085	0.31;-0.08;0.92	3.39	-0.606	0.11619	EF-hand-like domain (1);	0.839255	0.10312	N	0.689840	T	0.59183	0.2175	M	0.62723	1.935	0.09310	N	1	P;P;P	0.49783	0.859;0.928;0.928	P;P;P	0.51895	0.451;0.683;0.683	T	0.48340	-0.9044	10	0.27082	T	0.32	-4.8744	0.523	0.00615	0.4291:0.2311:0.1345:0.2052	.	452;500;404	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	A	500;404;452;26	ENSP00000332111:T500A;ENSP00000430048:T404A;ENSP00000429566:T26A	ENSP00000332111:T500A	T	+	1	0	C17orf57	42810256	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	0.511000	0.22739	-0.265000	0.09352	0.377000	0.23210	ACT		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		3	55	3	55	---	---	---	---
STX16	8675	broad.mit.edu	37	20	57251292	57251292	+	Nonsense_Mutation	SNP	T	T	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr20:57251292T>A	ENST00000371141.4	+	9	1647	c.923T>A	c.(922-924)tTa>tAa	p.L308*	STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*|STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	308					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ATTTTAATATTATTTGTCATC	0.443																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(922-924)tTa>tAa		syntaxin 16							252.0	237.0	242.0					20																	57251292		2203	4300	6503	SO:0001587	stop_gained	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57251292T>A	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.923T>A	20.37:g.57251292T>A	ENSP00000360183:p.Leu308*		Somatic				STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*|STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291*	p.L308*	NM_001001433.2	NP_001001433.1	WXS	Illumina GAIIx	Phase_I	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		9	1647	+	all_lung(29;0.0175)		308					A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Nonsense_Mutation	SNP	ENST00000371141.4	37	c.923T>A	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	T	43	10.209280	0.99360	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5232	0.75881	0.0:0.0:0.0:1.0	.	.	.	.	X	291;291;308;255;287;304;308;202;122	.	.	L	+	2	0	STX16	56684698	1.000000	0.71417	0.054000	0.19295	0.998000	0.95712	6.972000	0.76110	2.317000	0.78254	0.460000	0.39030	TTA		0.443	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		4	181	4	181	---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53645401	53645401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr19:53645401delG	ENST00000334197.7	-	5	748	c.680delC	c.(679-681)cctfs	p.P227fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs|ZNF347_ENST00000452676.2_Frame_Shift_Del_p.P228fs	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GACATTATAAGGCATTTGTTG	0.343																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(682-684)cctfs		zinc finger protein 347							108.0	112.0	111.0					19																	53645401		2203	4300	6503	SO:0001589	frameshift_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645401delG	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.680delC	19.37:g.53645401delG	ENSP00000334146:p.Pro227fs		Somatic				ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.P227fs|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs	p.P228fs	NM_001172674.1	NP_001166145.1	WXS	Illumina GAIIx	Phase_I	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1109	-			227					B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Del	DEL	ENST00000334197.7	37	c.683delC	CCDS33097.1																																																																																				0.343	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		12	181	12	181	---	---	---	---
