#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ADAM21P1	145241	broad.mit.edu	37	14	70713782	70713782	+	RNA	SNP	A	A	G	rs200469187		TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr14:70713782A>G	ENST00000530196.1	-	0	736					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GTCACCAGCAAATTTTGGTTC	0.443																																						ENST00000530196.1																			0																																																			145241							g.chr14:70713782A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713782A>G								NR_003951.1						0	736	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.443	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		3	73	0	0	0	1	0	3	73				
DNAI2	64446	broad.mit.edu	37	17	72285858	72285858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr17:72285858C>A	ENST00000311014.6	+	5	660	c.593C>A	c.(592-594)tCa>tAa	p.S198*	DNAI2_ENST00000307504.5_Nonsense_Mutation_p.S55*|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.S198*|DNAI2_ENST00000579490.1_Nonsense_Mutation_p.S255*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.S198*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	198					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCAGCGATTCATACATCTGG	0.637									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(763-765)tCa>tAa		dynein, axonemal, intermediate chain 2							62.0	60.0	61.0					17																	72285858		2203	4300	6503	SO:0001587	stop_gained	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72285858C>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.593C>A	17.37:g.72285858C>A	ENSP00000308312:p.Ser198*					DNAI2_ENST00000582036.1_Nonsense_Mutation_p.S198*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.S198*|DNAI2_ENST00000311014.6_Nonsense_Mutation_p.S198*|DNAI2_ENST00000307504.5_Nonsense_Mutation_p.S55*	p.S255*			Q9GZS0	DNAI2_HUMAN			4	899	+			198					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Nonsense_Mutation	SNP	ENST00000311014.6	37	c.764C>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	41	8.596512	0.98879	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2476	17.857	0.88767	0.0:1.0:0.0:0.0	.	.	.	.	X	198;55;198	.	ENSP00000302929:S55X	S	+	2	0	DNAI2	69797453	1.000000	0.71417	0.628000	0.29241	0.898000	0.52572	7.077000	0.76814	2.229000	0.72834	0.491000	0.48974	TCA		0.637	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		3	45	1	0	1	1	1	3	45				
RNF17	56163	broad.mit.edu	37	13	25399864	25399864	+	Silent	SNP	T	T	C			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr13:25399864T>C	ENST00000255324.5	+	16	2251	c.2199T>C	c.(2197-2199)tgT>tgC	p.C733C	RNF17_ENST00000381921.1_Silent_p.C733C	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	733	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATCAAGCCTGTGTAGCTAAAT	0.363																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2197-2199)tgT>tgC		ring finger protein 17							104.0	101.0	102.0					13																	25399864		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25399864T>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2199T>C	13.37:g.25399864T>C						RNF17_ENST00000381921.1_Silent_p.C733C	p.C733C	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	16	2251	+		Lung SC(185;0.0225)|Breast(139;0.077)	733			Tudor 1.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.2199T>C	CCDS9308.2																																																																																				0.363	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		14	73	0	0	0	1	0	14	73				
PCDHB6	56130	broad.mit.edu	37	5	140530109	140530109	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr5:140530109C>T	ENST00000231136.1	+	1	271	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACTGGACCGGGAGGAGCT	0.507																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(271-273)Cgg>Tgg									71.0	77.0	75.0					5																	140530109		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530109C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.271C>T	5.37:g.140530109C>T	ENSP00000231136:p.Arg91Trp					PCDHB6_ENST00000543635.1_5'UTR	p.R91W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	271	+			91			Cadherin 1.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.271C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514877	0.27123	.	.	ENSG00000113211	ENST00000231136	T	0.54071	0.59	4.97	3.14	0.36123	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	D	0.83510	0.5270	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88780	0.3270	9	0.87932	D	0	.	13.3638	0.60671	0.543:0.457:0.0:0.0	.	91	Q9Y5E3	PCDB6_HUMAN	W	91	ENSP00000231136:R91W	ENSP00000231136:R91W	R	+	1	2	PCDHB6	140510293	0.566000	0.26618	0.994000	0.49952	0.130000	0.20726	0.212000	0.17497	0.566000	0.29273	-0.314000	0.08810	CGG		0.507	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		13	57	0	0	0	1	0	13	57				
VPS54	51542	broad.mit.edu	37	2	64199342	64199342	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr2:64199342G>C	ENST00000272322.4	-	4	569	c.415C>G	c.(415-417)Cct>Gct	p.P139A	VPS54_ENST00000354504.3_Missense_Mutation_p.P22A|VPS54_ENST00000409558.4_Missense_Mutation_p.P127A			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	139					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCTTTAGGAGGACAAATATTC	0.289																																						ENST00000354504.3																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(64-66)Cct>Gct		vacuolar protein sorting 54 homolog (S. cerevisiae)							76.0	74.0	74.0					2																	64199342		2202	4292	6494	SO:0001583	missense	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64199342G>C	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.415C>G	2.37:g.64199342G>C	ENSP00000272322:p.Pro139Ala					VPS54_ENST00000272322.4_Missense_Mutation_p.P139A|VPS54_ENST00000409558.3_Missense_Mutation_p.P127A	p.P22A			Q9P1Q0	VPS54_HUMAN			2	653	-			139					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	c.64C>G	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193820	0.58017	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.29655	1.56;1.56;1.56	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	L	0.51422	1.61	0.80722	D	1	B;B;B	0.27068	0.167;0.049;0.082	B;B;B	0.28011	0.053;0.039;0.085	T	0.05852	-1.0860	10	0.08599	T	0.76	.	16.0392	0.80651	0.0:0.0:0.8653:0.1347	.	22;139;127	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	A	22;139;127;127;139	ENSP00000346499:P22A;ENSP00000272322:P139A;ENSP00000386980:P127A	ENSP00000272322:P139A	P	-	1	0	VPS54	64052846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.685000	0.74543	2.682000	0.91365	0.555000	0.69702	CCT		0.289	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		14	58	0	0	0	1	0	14	58				
DKK3	27122	broad.mit.edu	37	11	12020296	12020296	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr11:12020296A>T	ENST00000396505.2	-	4	620	c.382T>A	c.(382-384)Ttt>Att	p.F128I	DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.F128I|DKK3_ENST00000326932.4_Missense_Mutation_p.F128I|DKK3_ENST00000450094.2_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	128					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GTCTCTGAAAAGACCATTTGT	0.418																																						ENST00000396505.2																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8						c.(382-384)Ttt>Att		dickkopf WNT signaling pathway inhibitor 3							199.0	174.0	182.0					11																	12020296		2201	4294	6495	SO:0001583	missense	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:12020296A>T	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.382T>A	11.37:g.12020296A>T	ENSP00000379762:p.Phe128Ile					DKK3_ENST00000326932.4_Missense_Mutation_p.F128I|DKK3_ENST00000450094.2_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.F128I|DKK3_ENST00000527132.1_Intron	p.F128I	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	4	620	-			128					A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	c.382T>A	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.402864	0.25291	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000533813	T;T;T;T	0.20598	2.35;2.35;2.35;2.06	4.99	2.58	0.30949	.	0.444283	0.26103	N	0.026338	T	0.10380	0.0254	N	0.24115	0.695	0.58432	D	0.999991	P;B	0.39022	0.655;0.013	B;B	0.31191	0.125;0.004	T	0.13522	-1.0506	10	0.42905	T	0.14	-0.7928	6.5928	0.22656	0.6884:0.1672:0.0:0.1444	.	128;128	F6SYF8;Q9UBP4	.;DKK3_HUMAN	I	128;128;71;128;128	ENSP00000379762:F128I;ENSP00000314910:F128I;ENSP00000433112:F128I;ENSP00000435269:F128I	ENSP00000314910:F128I	F	-	1	0	DKK3	11976872	1.000000	0.71417	0.978000	0.43139	0.274000	0.26718	2.177000	0.42509	0.910000	0.36722	-0.336000	0.08194	TTT		0.418	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		30	37	0	0	0	1	0	30	37				
FGD6	55785	broad.mit.edu	37	12	95528532	95528532	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr12:95528532T>C	ENST00000343958.4	-	8	3288	c.3065A>G	c.(3064-3066)tAc>tGc	p.Y1022C	FGD6_ENST00000546711.1_Missense_Mutation_p.Y1022C|FGD6_ENST00000549499.1_Missense_Mutation_p.Y1022C	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1022	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CAACAGCCTGTACTGGGGGAT	0.517																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3064-3066)tAc>tGc		FYVE, RhoGEF and PH domain containing 6							56.0	49.0	52.0					12																	95528532		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95528532T>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3065A>G	12.37:g.95528532T>C	ENSP00000344446:p.Tyr1022Cys					FGD6_ENST00000549499.1_Missense_Mutation_p.Y1022C|FGD6_ENST00000546711.1_Missense_Mutation_p.Y1022C	p.Y1022C	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			8	3288	-			1022			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.3065A>G	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357624	0.82243	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.69306	-0.39;-0.39;-0.39	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.000000	0.44285	D	0.000465	D	0.87641	0.6228	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.91507	0.5224	10	0.87932	D	0	-16.3465	16.2303	0.82332	0.0:0.0:0.0:1.0	.	1022;1022	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	C	1022	ENSP00000344446:Y1022C;ENSP00000450342:Y1022C;ENSP00000449005:Y1022C	ENSP00000344446:Y1022C	Y	-	2	0	FGD6	94052663	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.625000	0.83145	2.233000	0.73108	0.533000	0.62120	TAC		0.517	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		12	15	0	0	0	1	0	12	15				
PCMTD1	115294	broad.mit.edu	37	8	52732912	52732912	+	Nonstop_Mutation	SNP	T	T	G			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr8:52732912T>G	ENST00000360540.5	-	7	1479	c.1073A>C	c.(1072-1074)tAa>tCa	p.*358S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Nonstop_Mutation_p.*282S|PCMTD1_ENST00000522514.1_Nonstop_Mutation_p.*358S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	0						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGATCTAAGTTATTTGTCTCT	0.338																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(1072-1074)tAa>tCa		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							35.0	35.0	35.0					8																	52732912		2199	4298	6497	SO:0001578	stop_lost	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52732912T>G		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.1073A>C	8.37:g.52732912T>G						PCMTD1_ENST00000544451.1_Nonstop_Mutation_p.*282S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonstop_Mutation_p.*358S	p.*358S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1479	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	0					Q96FK9	Nonstop_Mutation	SNP	ENST00000360540.5	37	c.1073A>C	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809016	0.70797	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8996	0.47043	0.0:0.0695:0.0:0.9305	.	.	.	.	S	358;282;358	.	.	X	-	2	2	PCMTD1	52895465	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	4.327000	0.59247	2.326000	0.78906	0.533000	0.62120	TAA		0.338	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		4	55	0	0	0	1	0	4	55				
PCDHB4	56131	broad.mit.edu	37	5	140502263	140502263	+	Missense_Mutation	SNP	G	G	A	rs367626652		TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr5:140502263G>A	ENST00000194152.1	+	1	683	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCATGGTTCGAATCCTGATC	0.537																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(682-684)cGa>cAa									130.0	120.0	123.0					5																	140502263		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502263G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.683G>A	5.37:g.140502263G>A	ENSP00000194152:p.Arg228Gln						p.R228Q	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	683	+			228			Cadherin 2.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.683G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435166	0.12045	.	.	ENSG00000081818	ENST00000194152	T	0.52754	0.65	4.31	-0.709	0.11237	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34221	0.0890	L	0.28608	0.87	0.09310	N	1	B	0.15473	0.013	B	0.19391	0.025	T	0.25882	-1.0119	9	0.34782	T	0.22	.	11.0503	0.47882	0.5953:0.0:0.4047:0.0	.	228	Q9Y5E5	PCDB4_HUMAN	Q	228	ENSP00000194152:R228Q	ENSP00000194152:R228Q	R	+	2	0	PCDHB4	140482447	0.000000	0.05858	0.054000	0.19295	0.749000	0.42624	-3.184000	0.00567	-0.281000	0.09141	-0.781000	0.03364	CGA		0.537	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		34	36	0	0	0	1	0	34	36				
C8orf37	157657	broad.mit.edu	37	8	96264494	96264494	+	Missense_Mutation	SNP	C	C	T	rs139137766	byFrequency	TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr8:96264494C>T	ENST00000286688.5	-	5	403	c.392G>A	c.(391-393)cGt>cAt	p.R131H		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	131						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					GGCTATACAACGCAGATGGTC	0.328													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18003	0.0		0.0	False		,,,				2504	0.0					ENST00000286688.5																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(391-393)cGt>cAt		chromosome 8 open reading frame 37		C	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	99.0	94.0	96.0		392	5.0	1.0	8	dbSNP_134	96	0,8600		0,0,4300	yes	missense	C8orf37	NM_177965.3	29	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	131/208	96264494	10,12996	2203	4300	6503	SO:0001583	missense	157657							g.chr8:96264494C>T	AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.392G>A	8.37:g.96264494C>T	ENSP00000286688:p.Arg131His						p.R131H	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN			5	403	-	Breast(36;3.41e-05)		131						Missense_Mutation	SNP	ENST00000286688.5	37	c.392G>A	CCDS6268.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.19	3.052537	0.55218	0.00227	0.0	ENSG00000156172	ENST00000286688	D	0.87809	-2.3	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.93625	0.7964	M	0.83953	2.67	0.47547	D	0.999459	D	0.89917	1.0	D	0.66196	0.942	D	0.94497	0.7706	10	0.87932	D	0	-10.1524	18.6169	0.91305	0.0:1.0:0.0:0.0	.	131	Q96NL8	CH037_HUMAN	H	131	ENSP00000286688:R131H	ENSP00000286688:R131H	R	-	2	0	C8orf37	96333670	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	6.877000	0.75562	2.480000	0.83734	0.555000	0.69702	CGT		0.328	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		5	79	0	0	0	1	0	5	79				
FBXO21	23014	broad.mit.edu	37	12	117595766	117595766	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr12:117595766C>G	ENST00000330622.5	-	10	1449	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	FBXO21_ENST00000427718.2_Missense_Mutation_p.E477Q			O94952	FBX21_HUMAN	F-box protein 21	484					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CCCACCTCCTCCTTTTTGCGC	0.582																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1429-1431)Gag>Cag		F-box protein 21							230.0	202.0	212.0					12																	117595766		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595766C>G	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1450G>C	12.37:g.117595766C>G	ENSP00000328187:p.Glu484Gln					FBXO21_ENST00000330622.5_Missense_Mutation_p.E484Q	p.E477Q	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1503	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		484					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1429G>C	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.37|18.37	3.609802|3.609802	0.66558|0.66558	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840|ENST00000550180	T;T|.	0.46819|.	0.87;0.86|.	5.02|5.02	5.02|5.02	0.67125|0.67125	F-box domain, Skp2-like (1);|.	0.125479|.	0.56097|.	D|.	0.000035|.	T|T	0.53594|0.53594	0.1806|0.1806	N|N	0.19112|0.19112	0.55|0.55	0.51767|0.51767	D|D	0.999935|0.999935	P;B;P;P|.	0.51933|.	0.932;0.07;0.948;0.949|.	P;B;P;P|.	0.51324|.	0.478;0.016;0.666;0.498|.	T|T	0.48581|0.48581	-0.9023|-0.9023	10|5	0.36615|.	T|.	0.2|.	-14.1729|-14.1729	18.5372|18.5372	0.91014|0.91014	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	333;227;484;477|.	Q8IUQ5;B3KQC8;O94952;O94952-1|.	.;.;FBX21_HUMAN;.|.	Q|A	477;393;333;484;136|360	ENSP00000414468:E477Q;ENSP00000328187:E484Q|.	ENSP00000257563:E393Q|.	E|G	-|-	1|2	0|0	FBXO21|FBXO21	116080149|116080149	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.750000|5.750000	0.68712|0.68712	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.582	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		96	95	0	0	0	1	0	96	95				
CYP11B1	1584	broad.mit.edu	37	8	143961139	143961139	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr8:143961139C>A	ENST00000292427.4	-	1	123	c.91G>T	c.(91-93)Gtc>Ttc	p.V31F	CYP11B1_ENST00000377675.3_Missense_Mutation_p.V31F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.V31F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	31					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GTCCTGGGGACCCGGGCGGCT	0.642									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(91-93)Gtc>Ttc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						71.0	70.0	70.0					8																	143961139		2203	4300	6503	SO:0001583	missense	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143961139C>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.91G>T	8.37:g.143961139C>A	ENSP00000292427:p.Val31Phe					CYP11B1_ENST00000377675.3_Missense_Mutation_p.V31F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.V31F	p.V31F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			1	123	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		31					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.91G>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141469	0.21205	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;D;T	0.83914	-1.0;-1.78;-1.08	2.96	-0.279	0.12890	.	0.844623	0.09777	N	0.757221	T	0.64227	0.2579	N	0.08118	0	0.09310	N	1	B;B;B	0.26512	0.151;0.008;0.082	B;B;B	0.29942	0.109;0.003;0.05	T	0.55127	-0.8189	10	0.62326	D	0.03	.	2.9415	0.05831	0.2136:0.5148:0.0:0.2716	.	31;31;31	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	F	31	ENSP00000292427:V31F;ENSP00000428043:V31F;ENSP00000366903:V31F	ENSP00000292427:V31F	V	-	1	0	CYP11B1	143958141	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.024000	0.13555	-0.239000	0.09710	0.305000	0.20034	GTC		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			29	20	1	0	1.75199e-13	1	1.83162e-13	29	20				
CCT6B	10693	broad.mit.edu	37	17	33269552	33269552	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr17:33269552T>C	ENST00000314144.5	-	7	951	c.836A>G	c.(835-837)gAc>gGc	p.D279G	CCT6B_ENST00000421975.3_Missense_Mutation_p.D242G|CCT6B_ENST00000436961.3_Missense_Mutation_p.D234G	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	279					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ACAGACTTTGTCCTTCAGGTC	0.294																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(835-837)gAc>gGc		chaperonin containing TCP1, subunit 6B (zeta 2)							74.0	70.0	71.0					17																	33269552		2203	4296	6499	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33269552T>C	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.836A>G	17.37:g.33269552T>C	ENSP00000327191:p.Asp279Gly					CCT6B_ENST00000436961.3_Missense_Mutation_p.D234G|CCT6B_ENST00000421975.3_Missense_Mutation_p.D242G	p.D279G	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			7	951	-		Ovarian(249;0.17)	279					B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.836A>G	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977448	0.34848	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.78364	-1.17;-1.17;-1.17	4.06	1.85	0.25348	.	0.577782	0.19827	N	0.105172	T	0.59972	0.2233	N	0.14661	0.345	0.20821	N	0.999841	B;B;B	0.13594	0.004;0.0;0.008	B;B;B	0.25987	0.045;0.005;0.065	T	0.54302	-0.8314	10	0.59425	D	0.04	-0.1507	6.7278	0.23367	0.0:0.2128:0.0:0.7872	.	234;242;279	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	G	242;279;234	ENSP00000398044:D242G;ENSP00000327191:D279G;ENSP00000400917:D234G	ENSP00000327191:D279G	D	-	2	0	CCT6B	30293665	0.999000	0.42202	0.895000	0.35142	0.832000	0.47134	3.547000	0.53663	0.695000	0.31675	0.482000	0.46254	GAC		0.294	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		17	2	0	0	0	1	0	17	2				
BCHE	590	broad.mit.edu	37	3	165547533	165547533	+	Missense_Mutation	SNP	G	G	A	rs562543522		TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr3:165547533G>A	ENST00000264381.3	-	2	1455	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	430					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GAACTCCAAGGCAGGGCATAT	0.438																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1288-1290)gCc>gTc		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						92.0	99.0	97.0					3																	165547533		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547533G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1289C>T	3.37:g.165547533G>A	ENSP00000264381:p.Ala430Val					BCHE_ENST00000540653.1_Intron	p.A430V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1455	-			430					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1289C>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.634635	0.00806	.	.	ENSG00000114200	ENST00000264381	D	0.95238	-3.65	5.46	4.58	0.56647	Carboxylesterase, type B (1);	0.403282	0.28338	N	0.015719	D	0.83571	0.5283	N	0.05330	-0.07	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.76774	-0.2835	10	0.02654	T	1	.	9.1388	0.36890	0.1612:0.0:0.8388:0.0	.	430	P06276	CHLE_HUMAN	V	430	ENSP00000264381:A430V	ENSP00000264381:A430V	A	-	2	0	BCHE	167030227	0.001000	0.12720	0.914000	0.36105	0.244000	0.25665	1.348000	0.33987	2.570000	0.86706	0.591000	0.81541	GCC		0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			6	26	0	0	0	1	0	6	26				
IQSEC2	23096	broad.mit.edu	37	X	53279664	53279664	+	Silent	SNP	G	G	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chrX:53279664G>A	ENST00000375368.5	-	4	2264	c.2064C>T	c.(2062-2064)agC>agT	p.S688S	IQSEC2_ENST00000375365.2_Silent_p.S493S|IQSEC2_ENST00000396435.3_Silent_p.S698S			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	688					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						AGCTCTCAAGGCTCTCGTTAT	0.617																																						ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(2092-2094)agC>agT		IQ motif and Sec7 domain 2							77.0	57.0	64.0					X																	53279664		2203	4300	6503	SO:0001819	synonymous_variant	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53279664G>A	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.2064C>T	X.37:g.53279664G>A						IQSEC2_ENST00000375368.5_Silent_p.S688S|IQSEC2_ENST00000375365.2_Silent_p.S493S	p.S698S	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			5	2294	-			688					B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37	c.2094C>T																																																																																					0.617	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		4	40	0	0	0	1	0	4	40				
MRPL46	26589	broad.mit.edu	37	15	89010473	89010473	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr15:89010473G>A	ENST00000312475.4	-	1	177	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	MRPL46_ENST00000559538.1_5'Flank|MRPS11_ENST00000353598.6_5'Flank|MRPS11_ENST00000325844.4_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	46						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CCCAACAAGCGCCATGGGGAT	0.652																																						ENST00000312475.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(136-138)Cgc>Tgc		mitochondrial ribosomal protein L46							41.0	41.0	41.0					15																	89010473		2201	4299	6500	SO:0001583	missense	26589					mitochondrion|ribosome	hydrolase activity	g.chr15:89010473G>A	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.136C>T	15.37:g.89010473G>A	ENSP00000312311:p.Arg46Cys						p.R46C	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		1	177	-	Lung NSC(78;0.203)		46					B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	c.136C>T	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946674	0.53186	.	.	ENSG00000173867	ENST00000312475	T	0.45668	0.89	4.86	3.95	0.45737	.	0.327917	0.31976	N	0.006771	T	0.58581	0.2132	M	0.73962	2.25	0.58432	D	0.999996	D	0.89917	1.0	D	0.68621	0.959	T	0.59799	-0.7386	10	0.54805	T	0.06	.	7.9062	0.29763	0.086:0.0:0.7543:0.1597	.	46	Q9H2W6	RM46_HUMAN	C	46	ENSP00000312311:R46C	ENSP00000312311:R46C	R	-	1	0	MRPL46	86811477	0.986000	0.35501	0.992000	0.48379	0.273000	0.26683	1.280000	0.33202	1.264000	0.44198	0.655000	0.94253	CGC		0.652	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		13	13	0	0	0	1	0	13	13				
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.P503R(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1507-1509)cCt>cGt		zinc finger protein 844							81.0	74.0	76.0					19																	12187443		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187443C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1508C>G	19.37:g.12187443C>G	ENSP00000392024:p.Pro503Arg					ZNF844_ENST00000441304.2_3'UTR	p.P503R	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1683	+			503					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1508C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889734	0.33348	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06142	3.34	2.75	-4.15	0.03881	.	.	.	.	.	T	0.07593	0.0191	M	0.76328	2.33	0.25823	N	0.984265	B	0.18741	0.03	B	0.12837	0.008	T	0.38950	-0.9637	9	0.72032	D	0.01	.	4.1302	0.10146	0.2954:0.1754:0.0:0.5292	.	503	Q08AG5	ZN844_HUMAN	R	503	ENSP00000392024:P503R	ENSP00000392024:P503R	P	+	2	0	ZNF844	12048443	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-4.308000	0.00255	-0.695000	0.05105	0.411000	0.27672	CCT		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			4	55	0	0	0	1	0	4	55				
PSG7	5676	broad.mit.edu	37	19	43441282	43441282	+	RNA	SNP	T	T	A	rs570464067	byFrequency	TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr19:43441282T>A	ENST00000406070.2	-	0	43				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GGATCCAGAATCTTCCTGAGC	0.597													.|||	3	0.000599042	0.0023	0.0	5008	,	,		17380	0.0		0.0	False		,,,				2504	0.0					ENST00000471557.1																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							41.0	45.0	44.0					19																	43441282		692	1591	2283			5676				female pregnancy	extracellular region		g.chr19:43441282T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43441282T>A						PSG7_ENST00000446844.3_RNA|PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	48	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.597	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		3	43	0	0	0	1	0	3	43				
HSPG2	3339	broad.mit.edu	37	1	22207315	22207315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr1:22207315delC	ENST00000374695.3	-	15	1911	c.1832delG	c.(1831-1833)ggcfs	p.G612fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	612	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGGGAGCCGCCATAGGAGTC	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(1831-1833)gcfs		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						26.0	27.0	26.0					1																	22207315		2191	4282	6473	SO:0001589	frameshift_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22207315delC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1832delG	1.37:g.22207315delC	ENSP00000363827:p.Gly612fs						p.G612fs	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	15	1911	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	612			Laminin IV type A 1.		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	ENST00000374695.3	37	c.1832delG	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		2	4						2	4	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142716575	142716578	+	lincRNA	DEL	AAAC	AAAC	-			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr1:142716575_142716578delAAAC	ENST00000610091.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422																																						ENST00000595144.1																			0																																																			100874392							g.chr1:142716575_142716578delAAAC																													1.37:g.142716583_142716586delAAAC														0	418	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.422	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			7	170						7	170	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			4	4						4	4	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29653263	29653263	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr17:29653263delC	ENST00000358273.4	+	37	5644	c.5261delC	c.(5260-5262)tctfs	p.S1754fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.S1733fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1754	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAAAGTTTCTATTAAAGTA	0.423			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5260-5262)ttfs		neurofibromin 1							59.0	56.0	57.0					17																	29653263		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29653263delC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5261delC	17.37:g.29653263delC	ENSP00000351015:p.Ser1754fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.S1733fs	p.S1754fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5644	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1754					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.5261delC	CCDS42292.1																																																																																				0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	2						18	2	---	---	---	---
IGLV3-12	28802	broad.mit.edu	37	22	23114748	23114749	+	RNA	INS	-	-	T	rs58165270|rs74864698|rs377036128	byFrequency	TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr22:23114748_23114749insT	ENST00000390313.2	+	0	55									immunoglobulin lambda variable 3-12																		CCATCCTCTCCTTTTTTTTTTT	0.495																																						ENST00000390313.2																			0																																																			28802							g.chr22:23114748_23114749insT	Z73658		22q11.2	2012-02-08			ENSG00000211667	ENSG00000211667		"""Immunoglobulins / IGL locus"""	5898	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151233		22.37:g.23114759_23114759dupT														0	55	+									RNA	INS	ENST00000390313.2	37																																																																																						0.495	IGLV3-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321838.1	NG_000002		4	3						4	3	---	---	---	---
RP11-308D16.4	0	broad.mit.edu	37	X	136030245	136030245	+	RNA	DEL	T	T	-			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chrX:136030245delT	ENST00000424306.1	+	0	2052																											GAGAACCTGCTTTTTTTTTTT	0.438																																						ENST00000424306.1																			0																																																			0							g.chrX:136030245delT																													X.37:g.136030245delT														0	2052	+									RNA	DEL	ENST00000424306.1	37																																																																																						0.438	RP11-308D16.4-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000058514.2			4	5						4	5	---	---	---	---
