#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
YTHDC1	91746	broad.mit.edu	37	4	69202911	69202911	+	Silent	SNP	T	T	C	rs568654350|rs548927284	byFrequency	TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr4:69202911T>C	ENST00000344157.4	-	4	1052	c.717A>G	c.(715-717)gaA>gaG	p.E239E	YTHDC1_ENST00000579690.1_Silent_p.E239E|YTHDC1_ENST00000355665.3_Silent_p.E239E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	239	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						cctcctcctcttcctcctcct	0.473																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(715-717)gaA>gaG		YTH domain containing 1							133.0	94.0	107.0					4																	69202911		2203	4300	6503	SO:0001819	synonymous_variant	91746							g.chr4:69202911T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.717A>G	4.37:g.69202911T>C						YTHDC1_ENST00000355665.3_Silent_p.E239E|YTHDC1_ENST00000579690.1_Silent_p.E239E	p.E239E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	1052	-			239			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	37	c.717A>G	CCDS33992.1																																																																																				0.473	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		8	11	0	0	0	1	0	8	11				
BCL2L14	79370	broad.mit.edu	37	12	12240321	12240321	+	Splice_Site	SNP	G	G	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr12:12240321G>A	ENST00000308721.5	+	3	813		c.e3+1		BCL2L14_ENST00000396369.1_Splice_Site|BCL2L14_ENST00000586576.1_Splice_Site|BCL2L14_ENST00000266434.4_Splice_Site|BCL2L14_ENST00000396367.1_Splice_Site|BCL2L14_ENST00000589718.1_Splice_Site	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)						apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TCTAAGAAAGGTAAGCTTTCC	0.532																																						ENST00000266434.4																			0				large_intestine(1)|lung(2)|skin(3)	6						c.e3+1		BCL2-like 14 (apoptosis facilitator)							103.0	106.0	105.0					12																	12240321		2203	4300	6503	SO:0001630	splice_region_variant	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12240321G>A	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.607+1G>A	12.37:g.12240321G>A						BCL2L14_ENST00000308721.5_Splice_Site|BCL2L14_ENST00000586576.1_Splice_Site|BCL2L14_ENST00000589718.1_Splice_Site|BCL2L14_ENST00000396369.1_Splice_Site|BCL2L14_ENST00000396367.1_Splice_Site		NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	3	802	+		Prostate(47;0.0872)						A8KAD0|Q96QR5|Q9BZR7	Splice_Site	SNP	ENST00000308721.5	37		CCDS8645.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255525	0.80135	.	.	ENSG00000121380	ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	.	.	.	3.41	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.627	0.45512	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCL2L14	12131588	1.000000	0.71417	0.994000	0.49952	0.906000	0.53458	2.332000	0.43903	2.224000	0.72417	0.655000	0.94253	.		0.532	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766	Intron	5	60	0	0	0	1	0	5	60				
OAZ3	51686	broad.mit.edu	37	1	151739705	151739705	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:151739705C>T	ENST00000321531.5	+	3	265	c.98C>T	c.(97-99)tCc>tTc	p.S33F	OAZ3_ENST00000479764.1_5'UTR|OAZ3_ENST00000577465.1_3'UTR|RP11-98D18.16_ENST00000596133.1_RNA|OAZ3_ENST00000400999.1_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.S33F|RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000453029.2_Missense_Mutation_p.S46F			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	78					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	GCTCCTGAGTCCCTAGTAGGC	0.512																																						ENST00000321531.5																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9						c.(97-99)tCc>tTc		ornithine decarboxylase antizyme 3	L-Ornithine(DB00129)						113.0	116.0	115.0					1																	151739705		1917	4120	6037	SO:0001583	missense	51686				cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity	g.chr1:151739705C>T	AF175296	CCDS58028.1	1q21.3	2008-02-05			ENSG00000143450	ENSG00000143450			8097	protein-coding gene	gene with protein product		605138				10781085	Standard	NM_016178		Approved		uc010pdm.2	Q9UMX2	OTTHUMG00000013061	ENST00000321531.5:c.98C>T	1.37:g.151739705C>T	ENSP00000313922:p.Ser33Phe					RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000479764.1_5'UTR|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.S46F|OAZ3_ENST00000315067.8_Missense_Mutation_p.S33F|OAZ3_ENST00000577465.1_3'UTR	p.S33F			Q9UMX2	OAZ3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	265	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		30					E7EUE7|Q6GMR0	Missense_Mutation	SNP	ENST00000321531.5	37	c.98C>T	CCDS58028.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414280	0.62511	.	.	ENSG00000143450	ENST00000315067;ENST00000321531	T	0.35421	1.31	5.43	3.52	0.40303	.	0.366741	0.23949	N	0.042964	T	0.21550	0.0519	M	0.63843	1.955	0.33982	D	0.648068	B;P	0.52842	0.001;0.956	B;P	0.44732	0.003;0.459	T	0.12142	-1.0559	10	0.87932	D	0	-14.6055	6.5457	0.22404	0.1782:0.7322:0.0:0.0896	.	13;30	D3DV23;Q9UMX2	.;OAZ3_HUMAN	F	33;77	ENSP00000357820:S33F	ENSP00000357820:S33F	S	+	2	0	OAZ3	150006329	0.685000	0.27652	0.998000	0.56505	0.763000	0.43281	0.695000	0.25527	0.820000	0.34516	0.655000	0.94253	TCC		0.512	OAZ3-004	KNOWN	non_canonical_other|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276842.3	NM_016178		7	75	0	0	0	1	0	7	75				
KLHL7	55975	broad.mit.edu	37	7	23207596	23207596	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr7:23207596G>T	ENST00000339077.5	+	9	1562	c.1319G>T	c.(1318-1320)gGa>gTa	p.G440V	KLHL7_ENST00000545443.1_Missense_Mutation_p.G418V|KLHL7_ENST00000539124.1_Missense_Mutation_p.G364V|KLHL7_ENST00000409689.1_Missense_Mutation_p.G392V|KLHL7_ENST00000322231.7_Missense_Mutation_p.G418V|KLHL7_ENST00000542558.1_Missense_Mutation_p.G215V	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	440					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGAAGTTTAGGAAACAATGTT	0.423																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1252-1254)gGa>gTa		kelch-like family member 7							151.0	147.0	148.0					7																	23207596		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23207596G>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1319G>T	7.37:g.23207596G>T	ENSP00000343273:p.Gly440Val					KLHL7_ENST00000409689.1_Missense_Mutation_p.G392V|KLHL7_ENST00000539124.1_Missense_Mutation_p.G364V|KLHL7_ENST00000542558.1_Missense_Mutation_p.G215V|KLHL7_ENST00000339077.4_Missense_Mutation_p.G440V|KLHL7_ENST00000545443.1_Missense_Mutation_p.G418V	p.G418V			Q8IXQ5	KLHL7_HUMAN			10	1743	+			440					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1253G>T	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994336	0.93167	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.69	5.69	0.88448	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.91828	0.7414	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.963	D	0.92698	0.6172	10	0.87932	D	0	.	19.813	0.96554	0.0:0.0:1.0:0.0	.	440;418	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	V	281;418;440;364;215;392;418	ENSP00000322958:G418V;ENSP00000343273:G440V;ENSP00000441136:G364V;ENSP00000442367:G215V;ENSP00000386263:G392V;ENSP00000442366:G418V	ENSP00000322958:G418V	G	+	2	0	KLHL7	23174121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.683000	0.91414	0.591000	0.81541	GGA		0.423	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		25	51	1	0	3.01185e-09	1	3.6666e-09	25	51				
INPP4A	3631	broad.mit.edu	37	2	99170841	99170841	+	Silent	SNP	G	G	A	rs374359971		TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr2:99170841G>A	ENST00000523221.1	+	14	1470	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	INPP4A_ENST00000409540.3_Silent_p.S490S|INPP4A_ENST00000074304.5_Silent_p.S490S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Silent_p.S490S|INPP4A_ENST00000409851.3_Silent_p.S485S|INPP4A_ENST00000545415.1_Silent_p.S490S			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	490					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CTCCCACTTCGACTGAGGAGG	0.602																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(1468-1470)tcG>tcA		inositol polyphosphate-4-phosphatase, type I, 107kDa							52.0	56.0	55.0					2																	99170841		2177	4274	6451	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99170841G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1470G>A	2.37:g.99170841G>A						INPP4A_ENST00000409540.3_Silent_p.S490S|INPP4A_ENST00000409851.3_Silent_p.S485S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.S490S|INPP4A_ENST00000409016.3_Silent_p.S490S|INPP4A_ENST00000523221.1_Silent_p.S490S	p.S490S	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			16	1863	+			490					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.1470G>A	CCDS46369.1																																																																																				0.602	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		10	15	0	0	0	1	0	10	15				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	128	0	0	0	1	0	4	128				
ANO3	63982	broad.mit.edu	37	11	26677925	26677925	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr11:26677925A>G	ENST00000256737.3	+	26	3512	c.2660A>G	c.(2659-2661)tAc>tGc	p.Y887C	ANO3_ENST00000525139.1_Missense_Mutation_p.Y871C|ANO3_ENST00000537978.1_Missense_Mutation_p.Y871C|ANO3_ENST00000531568.1_Missense_Mutation_p.Y741C	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	887					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GATTTCAGGTACAGAGACTAC	0.388																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(2659-2661)tAc>tGc		anoctamin 3							128.0	129.0	129.0					11																	26677925		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26677925A>G	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2660A>G	11.37:g.26677925A>G	ENSP00000256737:p.Tyr887Cys					ANO3_ENST00000537978.1_Missense_Mutation_p.Y871C|ANO3_ENST00000525139.1_Missense_Mutation_p.Y871C|ANO3_ENST00000531568.1_Missense_Mutation_p.Y741C	p.Y887C	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			26	3512	+			887					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2660A>G	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099000	0.76870	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	D;D;D;D	0.86030	-2.05;-2.05;-2.06;-1.85	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95644	0.8701	10	0.87932	D	0	.	15.491	0.75605	1.0:0.0:0.0:0.0	.	789;887	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	C	871;871;887;789;741	ENSP00000440737:Y871C;ENSP00000432576:Y871C;ENSP00000256737:Y887C;ENSP00000432394:Y741C	ENSP00000256737:Y887C	Y	+	2	0	ANO3	26634501	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.335000	0.96500	2.056000	0.61249	0.528000	0.53228	TAC		0.388	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		6	73	0	0	0	1	0	6	73				
RSRC2	65117	broad.mit.edu	37	12	122990196	122990196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr12:122990196G>A	ENST00000331738.7	-	10	1328	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q347*|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	395							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTTCCTGCTGCTTCAGAGTC	0.373																																						ENST00000331738.7																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(1183-1185)Cag>Tag		arginine/serine-rich coiled-coil 2							147.0	129.0	135.0					12																	122990196		2203	4300	6503	SO:0001587	stop_gained	65117							g.chr12:122990196G>A	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1183C>T	12.37:g.122990196G>A	ENSP00000330188:p.Gln395*					RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q347*	p.Q395*	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	10	1328	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		395					Q6N040|Q6NW16|Q9H864	Nonsense_Mutation	SNP	ENST00000331738.7	37	c.1183C>T	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367095	0.95900	.	.	ENSG00000111011	ENST00000331738;ENST00000354654	.	.	.	6.04	6.04	0.98038	.	0.048027	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6396	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	395;347	.	ENSP00000330188:Q395X	Q	-	1	0	RSRC2	121556149	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.750000	0.68712	2.881000	0.98747	0.650000	0.86243	CAG		0.373	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		33	51	0	0	0	1	0	33	51				
EMR3	84658	broad.mit.edu	37	19	14752291	14752291	+	Silent	SNP	C	C	T	rs190395132		TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr19:14752291C>T	ENST00000253673.5	-	10	1288	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	EMR3_ENST00000443157.2_Silent_p.S270S|EMR3_ENST00000599900.1_Silent_p.S181S|EMR3_ENST00000344373.4_Silent_p.S344S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	396					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGAGGCAGAGCGAGAGCTGCA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20146	0.001		0.0	False		,,,				2504	0.0					ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1186-1188)tcG>tcA		egf-like module containing, mucin-like, hormone receptor-like 3							124.0	96.0	106.0					19																	14752291		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14752291C>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1188G>A	19.37:g.14752291C>T						EMR3_ENST00000344373.4_Silent_p.S344S|EMR3_ENST00000599900.1_Silent_p.S181S|EMR3_ENST00000443157.2_Silent_p.S270S	p.S396S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			10	1288	-			396						Silent	SNP	ENST00000253673.5	37	c.1188G>A	CCDS12315.1																																																																																				0.587	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		16	25	0	0	0	1	0	16	25				
APRT	353	broad.mit.edu	37	16	88874571	88874571	+	IGR	SNP	G	G	C			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr16:88874571G>C	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.W509S	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CTGCCGGACTGGCTCAGCCTC	0.672																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1525-1527)tGg>tCg		chromatin licensing and DNA replication factor 1							48.0	36.0	40.0					16																	88874571		2195	4297	6492	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88874571G>C		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88874571G>C							p.W509S	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	10	2145	+			509					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1526G>C	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098140	0.56183	.	.	ENSG00000167513	ENST00000301019	T	0.79247	-1.25	5.54	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.89026	0.6598	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90856	0.4735	10	0.87932	D	0	.	14.2365	0.65929	0.0725:0.0:0.9275:0.0	.	509	Q9H211	CDT1_HUMAN	S	509	ENSP00000301019:W509S	ENSP00000301019:W509S	W	+	2	0	CDT1	87402072	1.000000	0.71417	0.993000	0.49108	0.047000	0.14425	8.647000	0.91057	1.343000	0.45638	0.563000	0.77884	TGG		0.672	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		4	22	0	0	0	1	0	4	22				
CHRNB2	1141	broad.mit.edu	37	1	154548321	154548321	+	Silent	SNP	C	C	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:154548321C>A	ENST00000368476.3	+	6	1686	c.1422C>A	c.(1420-1422)acC>acA	p.T474T		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	474					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TCTTTGGCACCATCGGCATGT	0.567																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(1420-1422)acC>acA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						335.0	242.0	274.0					1																	154548321		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154548321C>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1422C>A	1.37:g.154548321C>A							p.T474T	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1686	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		474					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.1422C>A	CCDS1070.1																																																																																				0.567	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		4	95	1	0	3.59834e-05	1	3.73161e-05	4	95				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		5	8	0	0	0	1	0	5	8				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			100132979							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		4	221	0	0	0	1	0	4	221				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	16	0	0	0	1	0	3	16				
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C	rs538666859		TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr19:12187394T>C	ENST00000439326.3	+	4	1634	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	487					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.F487L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		23892	0.0		0.001	False		,,,				2504	0.0					ENST00000439326.3																			1	Substitution - Missense(1)	p.F487L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1459-1461)Ttt>Ctt		zinc finger protein 844							88.0	76.0	80.0					19																	12187394		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187394T>C	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.1459T>C	19.37:g.12187394T>C	ENSP00000392024:p.Phe487Leu					ZNF844_ENST00000441304.2_3'UTR	p.F487L	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1634	+			487					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1459T>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.727179	0.00091	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.04862	3.54	2.75	-5.5	0.02576	.	.	.	.	.	T	0.01454	0.0047	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.11485	T	0.65	.	1.7468	0.02963	0.1644:0.3872:0.2107:0.2378	.	487	Q08AG5	ZN844_HUMAN	L	487	ENSP00000392024:F487L	ENSP00000392024:F487L	F	+	1	0	ZNF844	12048394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.436000	0.00000	-6.151000	0.00006	-3.187000	0.00055	TTT		0.448	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	56	0	0	0	1	0	3	56				
CMYA5	202333	broad.mit.edu	37	5	79032506	79032506	+	Missense_Mutation	SNP	C	C	G			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr5:79032506C>G	ENST00000446378.2	+	2	7949	c.7918C>G	c.(7918-7920)Ctt>Gtt	p.L2640V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2640					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCCGGTGGCTCTTTCTTGTCG	0.413																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7918-7920)Ctt>Gtt		cardiomyopathy associated 5							49.0	51.0	50.0					5																	79032506		1810	4079	5889	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032506C>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7918C>G	5.37:g.79032506C>G	ENSP00000394770:p.Leu2640Val						p.L2640V	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7949	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2640					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7918C>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388592	0.25118	.	.	ENSG00000164309	ENST00000446378	T	0.38887	1.11	4.15	1.22	0.21188	.	.	.	.	.	T	0.34135	0.0887	N	0.17082	0.46	0.09310	N	1	D	0.63880	0.993	P	0.55923	0.787	T	0.11060	-1.0603	9	0.42905	T	0.14	.	3.3664	0.07204	0.2025:0.5714:0.0:0.2261	.	2640	Q8N3K9	CMYA5_HUMAN	V	2640	ENSP00000394770:L2640V	ENSP00000394770:L2640V	L	+	1	0	CMYA5	79068262	0.594000	0.26849	0.032000	0.17829	0.069000	0.16628	1.407000	0.34657	0.198000	0.20407	0.393000	0.25936	CTT		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		15	26	0	0	0	1	0	15	26				
WNT9B	7484	broad.mit.edu	37	17	44952701	44952701	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr17:44952701C>A	ENST00000290015.2	+	3	622	c.569C>A	c.(568-570)gCa>gAa	p.A190E	WNT9B_ENST00000393461.2_Missense_Mutation_p.A190E	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	190					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGGGCACGGGCAGACGCCCAC	0.607																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(568-570)gCa>gAa		wingless-type MMTV integration site family, member 9B							48.0	41.0	43.0					17																	44952701		2202	4299	6501	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44952701C>A	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.569C>A	17.37:g.44952701C>A	ENSP00000290015:p.Ala190Glu					WNT9B_ENST00000290015.2_Missense_Mutation_p.A190E	p.A190E			O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		3	622	+			190					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.569C>A	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861065	0.51482	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.76316	-1.01;-1.01	4.91	-0.966	0.10320	.	0.532611	0.21403	N	0.075107	T	0.64702	0.2622	L	0.29908	0.895	0.25575	N	0.986856	P;P	0.40302	0.712;0.523	B;B	0.41440	0.357;0.16	T	0.60342	-0.7282	10	0.87932	D	0	.	8.4209	0.32700	0.0:0.3391:0.0:0.6609	.	190;190	E7EPC3;O14905	.;WNT9B_HUMAN	E	184;190;190	ENSP00000377105:A190E;ENSP00000290015:A190E	ENSP00000290015:A190E	A	+	2	0	WNT9B	42307700	0.996000	0.38824	0.142000	0.22268	0.956000	0.61745	2.179000	0.42528	0.014000	0.14944	0.462000	0.41574	GCA		0.607	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		9	11	1	0	2.17888e-05	1	2.44034e-05	9	11				
SEC22B	9554	broad.mit.edu	37	1	145109547	145109547	+	RNA	SNP	G	G	T			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:145109547G>T	ENST00000453618.1	+	0	536							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGGGGTGTGTGATTTGGTT	0.403																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							350.0	339.0	342.0					1																	145109547		2038	4194	6232			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109547G>T	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109547G>T										O75396	SC22B_HUMAN			0	536	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.403	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		9	206	1	0	0.000274275	1	0.000274275	9	206				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	10	0	0	0	1	0	7	10				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444141	81444143	+	RNA	DEL	AGG	AGG	-			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr10:81444141_81444143delAGG	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							CCCCACATGCAGGAGGAGGAGGC	0.665																																						ENST00000600376.1																			0																																																			101060691							g.chr10:81444141_81444143delAGG																													10.37:g.81444150_81444152delAGG						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	DEL	ENST00000600376.1	37																																																																																						0.665	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			2	4						2	4	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29588743	29588743	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr17:29588743delT	ENST00000358273.4	+	35	4975	c.4592delT	c.(4591-4593)gttfs	p.V1531fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.V1510fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1531					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.?(4)	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)		CATAAAGCTGTTGGAAGACGA	0.408			"""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)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(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.(4591-4593)gtfs		neurofibromin 1							122.0	107.0	112.0					17																	29588743		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.chr17:29588743delT		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.4592delT	17.37:g.29588743delT	ENSP00000351015:p.Val1531fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.V1510fs	p.V1531fs	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)	35	4975	+		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)	1531					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4592delT	CCDS42292.1																																																																																				0.408	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		46	22						46	22	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		3	5						3	5	---	---	---	---
