#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TNR	7143	broad.mit.edu	37	1	175334302	175334302	+	Silent	SNP	T	T	G			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr1:175334302T>G	ENST00000367674.2	-	12	3139	c.2431A>C	c.(2431-2433)Agg>Cgg	p.R811R	TNR_ENST00000263525.2_Silent_p.R811R			Q92752	TENR_HUMAN	tenascin R	811	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTCATCCCTGGGGCTGTAG	0.522																																						uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2431-2433)AGG>CGG		tenascin R precursor							114.0	106.0	109.0					1																	175334302		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175334302T>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2431A>C	1.37:g.175334302T>G						TNR_uc009wwu.1_Silent_p.R811R	p.R811R	NM_003285	NP_003276	Q92752	TENR_HUMAN			10	2512	-	Renal(580;0.146)		811			Fibronectin type-III 6.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.2431A>C	CCDS1318.1																																																																																				0.522	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		17	48	0	0	0	0	17	48				
NUAK2	81788	broad.mit.edu	37	1	205290569	205290569	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr1:205290569G>A	ENST00000367157.3	-	1	314	c.188C>T	c.(187-189)aCc>aTc	p.T63I		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTTCCCGTAGGTGCCTTTGCC	0.697																																						uc001hce.2		NA																	0				ovary(3)|stomach(1)|breast(1)	5						c.(187-189)ACC>ATC		NUAK family, SNF1-like kinase, 2							52.0	52.0	52.0					1																	205290569		2203	4300	6503	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205290569G>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.188C>T	1.37:g.205290569G>A	ENSP00000356125:p.Thr63Ile						p.T63I	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	315	-	Breast(84;0.186)		63			Protein kinase.|ATP (By similarity).			Missense_Mutation	SNP	ENST00000367157.3	37	c.188C>T	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755330	0.96898	.	.	ENSG00000163545	ENST00000367157	T	0.26223	1.75	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40640	N	0.001059	T	0.52175	0.1718	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53697	-0.8402	10	0.87932	D	0	.	18.8663	0.92293	0.0:0.0:1.0:0.0	.	63	Q9H093	NUAK2_HUMAN	I	63	ENSP00000356125:T63I	ENSP00000356125:T63I	T	-	2	0	NUAK2	203557192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.641000	0.98458	2.545000	0.85829	0.561000	0.74099	ACC		0.697	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		7	42	0	0	0	0	7	42				
CRACR2B	283229	broad.mit.edu	37	11	828915	828915	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr11:828915C>T	ENST00000525077.1	+	2	330	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000450448.1_Missense_Mutation_p.R77W|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.R77W			Q8N4Y2	EFC4A_HUMAN		77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> Q (in dbSNP:rs7126805). {ECO:0000269|PubMed:15489334}.		cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTCTGGACCGGGCTCACAC	0.657																																						uc001lrv.2		NA																	0					0						c.(229-231)CGG>TGG		RecName: Full=EF-hand calcium-binding domain-containing protein 4A;							73.0	81.0	79.0					11																	828915		2062	4195	6257	SO:0001583	missense	283229				store-operated calcium entry		calcium ion binding	g.chr11:828915C>T																												ENST00000525077.1:c.229C>T	11.37:g.828915C>T	ENSP00000435299:p.Arg77Trp					EFCAB4A_uc010qwt.1_Missense_Mutation_p.R77W|EFCAB4A_uc009ycm.1_Missense_Mutation_p.R77W|EFCAB4A_uc001lrw.2_5'Flank	p.R77W			Q8N4Y2	EFC4A_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	607	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	77			EF-hand 2.		D5LPR2|Q8NBW8	Missense_Mutation	SNP	ENST00000525077.1	37	c.229C>T		.	.	.	.	.	.	.	.	.	.	C	23.2	4.391451	0.83011	.	.	ENSG00000177685	ENST00000533803;ENST00000527089;ENST00000528542;ENST00000450448;ENST00000321883;ENST00000525077	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.49	3.5	0.40072	EF-hand-like domain (1);	0.165886	0.39274	U	0.001412	T	0.35068	0.0919	N	0.19112	0.55	0.26701	N	0.971163	D;D;P	0.71674	0.998;0.99;0.95	P;P;B	0.50570	0.644;0.631;0.406	T	0.17440	-1.0369	10	0.66056	D	0.02	.	10.9026	0.47059	0.1886:0.8114:0.0:0.0	.	77;77;77	E7EWX3;Q8N4Y2-3;Q8N4Y2	.;.;EFC4A_HUMAN	W	77	ENSP00000433602:R77W;ENSP00000432726:R77W;ENSP00000432334:R77W;ENSP00000409256:R77W;ENSP00000435299:R77W	ENSP00000324024:R77W	R	+	1	2	EFCAB4A	818915	0.998000	0.40836	0.996000	0.52242	0.926000	0.56050	1.401000	0.34589	2.057000	0.61298	0.491000	0.48974	CGG		0.657	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383097.1			7	91	0	0	0	0	7	91				
CPT1A	1374	broad.mit.edu	37	11	68548198	68548198	+	Silent	SNP	C	C	T	rs563338783		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr11:68548198C>T	ENST00000265641.5	-	12	1522	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	CPT1A_ENST00000540367.1_Silent_p.S456S|CPT1A_ENST00000539743.1_Silent_p.S456S|CPT1A_ENST00000376618.2_Silent_p.S456S	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	456					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CAAACGTGAACGACTTGTCAA	0.493																																						uc001oog.3		NA																	0				skin(2)	2						c.(1366-1368)TCG>TCA		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						131.0	110.0	117.0					11																	68548198		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68548198C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1368G>A	11.37:g.68548198C>T						CPT1A_uc001oof.3_Silent_p.S456S|CPT1A_uc009ysj.2_Intron	p.S456S	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		12	1538	-	Esophageal squamous(3;3.28e-14)		456			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1368G>A	CCDS8185.1																																																																																				0.493	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		15	53	0	0	0	0	15	53				
UCP3	7352	broad.mit.edu	37	11	73717220	73717220	+	Missense_Mutation	SNP	C	C	T	rs376385271		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr11:73717220C>T	ENST00000314032.4	-	3	883	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	UCP3_ENST00000426995.2_Missense_Mutation_p.A111T|UCP3_ENST00000348534.4_Missense_Mutation_p.A111T	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	111					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCACTGTCCGCGCCTTTGGGG	0.612																																						uc001our.2		NA																	0				pancreas(1)	1						c.(331-333)GCG>ACG		uncoupling protein 3 isoform UCP3L							39.0	39.0	39.0					11																	73717220		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73717220C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.331G>A	11.37:g.73717220C>T	ENSP00000323740:p.Ala111Thr					UCP3_uc001ous.2_Missense_Mutation_p.A111T	p.A111T	NM_003356	NP_003347	P55916	UCP3_HUMAN			3	686	-	Breast(11;2.08e-05)		111					O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.331G>A	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	C	2.268	-0.367613	0.05069	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	T;T;T	0.78481	-1.18;-1.14;-1.18	5.52	0.425	0.16473	Mitochondrial carrier domain (2);	5.491930	0.00166	N	0.000008	T	0.65585	0.2705	N	0.17800	0.525	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48790	-0.9004	10	0.16420	T	0.52	-5.6557	10.7172	0.46019	0.5811:0.3421:0.0:0.0768	.	111	P55916	UCP3_HUMAN	T	111	ENSP00000323740:A111T;ENSP00000343615:A111T;ENSP00000392143:A111T	ENSP00000323740:A111T	A	-	1	0	UCP3	73394868	0.015000	0.18098	0.008000	0.14137	0.001000	0.01503	0.334000	0.19787	0.159000	0.19401	-0.268000	0.10319	GCG		0.612	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		15	34	0	0	0	0	15	34				
UPF3A	65110	broad.mit.edu	37	13	115048325	115048325	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr13:115048325C>T	ENST00000375299.3	+	3	384	c.328C>T	c.(328-330)Ctc>Ttc	p.L110F	UPF3A_ENST00000351487.5_Missense_Mutation_p.L110F	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	110	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTATCCTCATCTCTACTCAAG	0.343																																						uc001vup.2		NA																	0				skin(1)	1						c.(328-330)CTC>TTC		UPF3 regulator of nonsense transcripts homolog A							145.0	135.0	138.0					13																	115048325		2203	4299	6502	SO:0001583	missense	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115048325C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.328C>T	13.37:g.115048325C>T	ENSP00000364448:p.Leu110Phe					UPF3A_uc010tkn.1_Missense_Mutation_p.L110F|UPF3A_uc001vuq.2_Missense_Mutation_p.L110F|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_RNA	p.L110F	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	3	365	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	110			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	c.328C>T	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871191	0.72065	.	.	ENSG00000169062	ENST00000375299;ENST00000351487	T;T	0.65364	-0.15;-0.15	4.63	3.77	0.43336	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.064498	0.64402	D	0.000007	T	0.78559	0.4302	M	0.81497	2.545	0.41784	D	0.989831	D;D;D	0.76494	0.992;0.999;0.983	D;D;P	0.70016	0.917;0.967;0.848	T	0.80772	-0.1233	9	.	.	.	-5.49	14.868	0.70430	0.0:0.856:0.144:0.0	.	110;110;110	B4DGE0;Q9H1J1-2;Q9H1J1	.;.;REN3A_HUMAN	F	110	ENSP00000364448:L110F;ENSP00000329592:L110F	.	L	+	1	0	UPF3A	114066427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.658000	0.46733	0.910000	0.36722	0.650000	0.86243	CTC		0.343	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			8	45	0	0	0	0	8	45				
ZSCAN2	54993	broad.mit.edu	37	15	85165178	85165178	+	Silent	SNP	G	G	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr15:85165178G>A	ENST00000448803.2	+	3	2044	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	ZSCAN2_ENST00000358472.3_Silent_p.K434K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.K583K|ZSCAN2_ENST00000546148.1_Silent_p.K584K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	584					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CTGGGGAGAAGCCCTACAAAT	0.483																																						uc002bkr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1750-1752)AAG>AAA		zinc finger protein 29 isoform 1							83.0	89.0	87.0					15																	85165178		2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85165178G>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1752G>A	15.37:g.85165178G>A						ZSCAN2_uc010bmz.1_Silent_p.K582K|ZSCAN2_uc010bna.2_Silent_p.K434K|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	p.K584K	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1978	+			584					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.1752G>A	CCDS10329.2																																																																																				0.483	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		10	71	0	0	0	0	10	71				
C15orf32	145858	broad.mit.edu	37	15	93015669	93015669	+	Silent	SNP	G	G	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr15:93015669G>A	ENST00000333334.2	+	1	786	c.291G>A	c.(289-291)ctG>ctA	p.L97L	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Silent_p.L97L	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	97										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			GTTTGATGCTGAAGCCAACAT	0.428																																						uc002brc.1		NA																	0				ovary(1)	1						c.(289-291)CTG>CTA		hypothetical protein LOC145858							75.0	79.0	78.0					15																	93015669		2198	4298	6496	SO:0001819	synonymous_variant	145858							g.chr15:93015669G>A		CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.291G>A	15.37:g.93015669G>A						C15orf32_uc010bod.1_RNA	p.L97L	NM_153040	NP_694585	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		1	763	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		97					C5HTZ8|Q96M45	Silent	SNP	ENST00000333334.2	37	c.291G>A	CCDS10373.1																																																																																				0.428	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040		4	75	0	0	0	0	4	75				
ZSCAN32	54925	broad.mit.edu	37	16	3433182	3433182	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr16:3433182C>A	ENST00000396852.4	-	7	2071	c.1764G>T	c.(1762-1764)caG>caT	p.Q588H	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.Q376H|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.Q299H|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.Q588H	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	588					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										GGCTGGAACTCTGGTTGAAGC	0.532																																						uc002cuz.2		NA																	0				ovary(2)	2						c.(1126-1128)CAG>CAT		zinc finger protein 434							121.0	118.0	119.0					16																	3433182		2197	4300	6497	SO:0001583	missense	54925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3433182C>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1764G>T	16.37:g.3433182C>A	ENSP00000380061:p.Gln588His					ZNF434_uc002cux.3_Missense_Mutation_p.Q587H|ZNF434_uc010uwx.1_Missense_Mutation_p.Q299H|ZNF434_uc002cuy.3_Missense_Mutation_p.Q299H	p.Q376H	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN			6	1930	-			376			C2H2-type 3.		B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.1128G>T		.	.	.	.	.	.	.	.	.	.	C	10.85	1.466799	0.26335	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	3.68	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17238	0.0414	N	0.04820	-0.15	0.23542	N	0.997456	P;B	0.46020	0.871;0.37	B;B	0.41299	0.353;0.12	T	0.03364	-1.1044	9	0.51188	T	0.08	.	5.0197	0.14354	0.0:0.7382:0.0:0.2618	.	376;588	Q9NX65;Q6WMU8	ZN434_HUMAN;.	H	376;588;588;299	ENSP00000302502:Q376H;ENSP00000380061:Q588H;ENSP00000380057:Q588H;ENSP00000391787:Q299H	ENSP00000302502:Q376H	Q	-	3	2	ZNF434	3373183	0.000000	0.05858	0.982000	0.44146	0.978000	0.69477	-1.139000	0.03213	1.619000	0.50296	0.655000	0.94253	CAG		0.532	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		18	61	1	0	7.08e-05	0.000106139	18	61				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM951226	TP53	M		c.(637-639)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	p.R213*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	9	0	0	0	0	16	9				
ALOXE3	59344	broad.mit.edu	37	17	8000028	8000028	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:8000028C>T	ENST00000448843.2	-	16	2393	c.2053G>A	c.(2053-2055)Gac>Aac	p.D685N	ALOXE3_ENST00000380149.1_Missense_Mutation_p.D841N|ALOXE3_ENST00000318227.3_Missense_Mutation_p.D817N	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	685	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCCTGGATGTCCCTTGAGATC	0.632																																						uc010cnr.2		NA																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(2053-2055)GAC>AAC		arachidonate lipoxygenase 3 isoform 2							121.0	117.0	119.0					17																	8000028		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8000028C>T	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.2053G>A	17.37:g.8000028C>T	ENSP00000400581:p.Asp685Asn					ALOXE3_uc002gka.2_Missense_Mutation_p.D841N|ALOXE3_uc010vuo.1_Missense_Mutation_p.D817N	p.D685N	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			16	2423	-			685			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.2053G>A	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585924	0.46110	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90004	-2.6;-2.6;-2.6	5.13	5.13	0.70059	Lipoxygenase, C-terminal (3);	0.421313	0.28828	N	0.014015	D	0.85035	0.5605	L	0.36672	1.1	0.43787	D	0.996325	B;B;B	0.12013	0.003;0.005;0.005	B;B;B	0.20955	0.032;0.014;0.014	T	0.79269	-0.1873	10	0.33141	T	0.24	-19.5333	17.8681	0.88801	0.0:1.0:0.0:0.0	.	817;685;685	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	N	841;817;685	ENSP00000369494:D841N;ENSP00000314879:D817N;ENSP00000400581:D685N	ENSP00000314879:D817N	D	-	1	0	ALOXE3	7940753	0.419000	0.25449	0.932000	0.37286	0.899000	0.52679	2.282000	0.43461	2.827000	0.97445	0.643000	0.83706	GAC		0.632	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			7	138	0	0	0	0	7	138				
CCL3	6348	broad.mit.edu	37	17	34416628	34416628	+	Missense_Mutation	SNP	G	G	A	rs368462880		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:34416628G>A	ENST00000225245.5	-	2	171	c.89C>T	c.(88-90)cCg>cTg	p.P30L	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	30					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAGGCGGTCGGCGTGTCAGC	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17321	0.0		0.0	False		,,,				2504	0.0					uc002hkv.2		NA																	0					0						c.(88-90)CCG>CTG		chemokine (C-C motif) ligand 3		G	LEU/PRO	0,4406		0,0,2203	112.0	118.0	116.0		89	4.3	0.6	17		116	2,8598		0,2,4298	no	missense	CCL3	NM_002983.2	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	30/93	34416628	2,13004	2203	4300	6503	SO:0001583	missense	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416628G>A	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.89C>T	17.37:g.34416628G>A	ENSP00000225245:p.Pro30Leu						p.P30L	NM_002983	NP_002974	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	191	-		Ovarian(249;0.17)	30						Missense_Mutation	SNP	ENST00000225245.5	37	c.89C>T	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.192270	0.38707	0.0	2.33E-4	ENSG00000006075	ENST00000225245	T	0.15487	2.42	5.29	4.32	0.51571	Chemokine interleukin-8-like domain (3);	0.189529	0.37348	N	0.002127	T	0.29817	0.0745	.	.	.	0.39220	D	0.963487	D	0.60160	0.987	P	0.54401	0.751	T	0.12863	-1.0531	9	0.72032	D	0.01	.	9.9809	0.41813	0.0912:0.0:0.9088:0.0	.	30	P10147	CCL3_HUMAN	L	30	ENSP00000225245:P30L	ENSP00000225245:P30L	P	-	2	0	CCL3	31440741	0.998000	0.40836	0.565000	0.28409	0.078000	0.17371	3.795000	0.55499	1.471000	0.48121	0.650000	0.86243	CCG		0.552	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983		14	147	0	0	0	0	14	147				
KRT28	162605	broad.mit.edu	37	17	38950249	38950249	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:38950249G>A	ENST00000306658.7	-	6	1093	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGCCAGCTGCGTACAGTAGTT	0.572																																					Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1		NA																	0				ovary(1)	1						c.(1027-1029)ACG>ATG		keratin 25D							129.0	131.0	130.0					17																	38950249		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38950249G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1028C>T	17.37:g.38950249G>A	ENSP00000305263:p.Thr343Met						p.T343M	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			6	1094	-		Breast(137;0.000301)	343			Rod.|Coil 2.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1028C>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830772	0.32329	.	.	ENSG00000173908	ENST00000306658	D	0.88664	-2.41	5.71	3.33	0.38152	Filament (1);	1.099240	0.06926	N	0.810325	T	0.73063	0.3539	N	0.02697	-0.525	0.09310	N	1	B	0.16603	0.018	B	0.20384	0.029	T	0.62868	-0.6763	10	0.29301	T	0.29	.	3.1835	0.06593	0.1317:0.1532:0.5398:0.1753	.	343	Q7Z3Y7	K1C28_HUMAN	M	343	ENSP00000305263:T343M	ENSP00000305263:T343M	T	-	2	0	KRT28	36203775	0.000000	0.05858	0.003000	0.11579	0.743000	0.42351	-0.306000	0.08178	1.508000	0.48769	0.655000	0.94253	ACG		0.572	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		39	154	0	0	0	0	39	154				
SEPT4	5414	broad.mit.edu	37	17	56604314	56604314	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr17:56604314G>A	ENST00000317268.3	-	2	262	c.86C>T	c.(85-87)aCg>aTg	p.T29M	SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000426861.1_Missense_Mutation_p.T10M|SEPT4_ENST00000580844.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Missense_Mutation_p.T21M|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000457347.2_Missense_Mutation_p.T44M|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000583114.1_De_novo_Start_InFrame|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.T10M|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000317256.6_Missense_Mutation_p.T10M	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	29					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCATCATCCGTGGTGTCCTC	0.582																																						uc002iwm.1		NA																	0					0						c.(85-87)ACG>ATG		septin 4 isoform 1							70.0	76.0	74.0					17																	56604314		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56604314G>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.86C>T	17.37:g.56604314G>A	ENSP00000321674:p.Thr29Met					SEPT4_uc002iwk.1_Translation_Start_Site|SEPT4_uc010wnw.1_Translation_Start_Site|SEPT4_uc002iwl.1_Translation_Start_Site|SEPT4_uc002iwn.1_Intron|SEPT4_uc002iwo.1_Missense_Mutation_p.T10M|SEPT4_uc002iwp.1_Missense_Mutation_p.T10M|SEPT4_uc010wnx.1_Missense_Mutation_p.T44M|SEPT4_uc010wny.1_Missense_Mutation_p.T21M|SEPT4_uc010dcy.1_Intron	p.T29M	NM_004574	NP_004565	O43236	SEPT4_HUMAN			2	214	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		29					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.86C>T	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111273	0.20714	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T;T	0.66280	0.61;0.56;0.63;0.61;0.63;-0.2	5.01	1.63	0.23807	.	2.606830	0.01049	N	0.004426	T	0.55955	0.1953	N	0.08118	0	0.21652	N	0.999601	P;D;D;P;P	0.65815	0.948;0.979;0.995;0.834;0.768	B;P;P;B;B	0.53861	0.406;0.534;0.736;0.406;0.178	T	0.53019	-0.8497	10	0.66056	D	0.02	.	7.4223	0.27079	0.0:0.1698:0.505:0.3252	.	21;44;10;10;29	O43236-3;O43236-4;O43236-6;O43236-2;O43236	.;.;.;.;SEPT4_HUMAN	M	21;43;10;29;10;10	ENSP00000414779:T21M;ENSP00000402000:T43M;ENSP00000321071:T10M;ENSP00000321674:T29M;ENSP00000376801:T10M;ENSP00000402348:T10M	ENSP00000321071:T10M	T	-	2	0	SEPT4	53959313	1.000000	0.71417	0.428000	0.26697	0.982000	0.71751	4.186000	0.58337	0.483000	0.27608	0.561000	0.74099	ACG		0.582	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		13	129	0	0	0	0	13	129				
PIAS4	51588	broad.mit.edu	37	19	4013192	4013192	+	Missense_Mutation	SNP	C	C	T	rs2289867	byFrequency	TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr19:4013192C>T	ENST00000262971.2	+	2	414	c.299C>T	c.(298-300)cCg>cTg	p.P100L		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	100					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGACTCCGCTGGCAGGC	0.652																																						uc002lzg.2		NA																	0				pancreas(1)	1						c.(298-300)CCG>CTG		protein inhibitor of activated STAT, 4		C	LEU/PRO	2,4404		0,2,2201	52.0	60.0	57.0		299	5.1	0.9	19	dbSNP_100	57	0,8600		0,0,4300	no	missense	PIAS4	NM_015897.2	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	100/511	4013192	2,13004	2203	4300	6503	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4013192C>T	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.299C>T	19.37:g.4013192C>T	ENSP00000262971:p.Pro100Leu						p.P100L	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	309	+			100					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.299C>T	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516215	0.27123	4.54E-4	0.0	ENSG00000105229	ENST00000262971	T	0.32988	1.43	5.14	5.14	0.70334	.	0.062554	0.64402	D	0.000003	T	0.16385	0.0394	N	0.08118	0	0.41275	D	0.986877	P	0.40230	0.708	B	0.29440	0.102	T	0.14172	-1.0482	10	0.87932	D	0	-31.2055	17.5804	0.87966	0.0:1.0:0.0:0.0	.	100	Q8N2W9	PIAS4_HUMAN	L	100	ENSP00000262971:P100L	ENSP00000262971:P100L	P	+	2	0	PIAS4	3964192	0.993000	0.37304	0.930000	0.37139	0.285000	0.27093	3.274000	0.51631	2.394000	0.81467	0.561000	0.74099	CCG		0.652	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		5	88	0	0	0	0	5	88				
CLC	1178	broad.mit.edu	37	19	40224981	40224981	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr19:40224981G>A	ENST00000221804.4	-	3	320	c.245C>T	c.(244-246)cCc>cTc	p.P82L		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	82	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ATCCTGAAAGGGCATATTCTT	0.537																																						uc002omh.2		NA																	0					0						c.(244-246)CCC>CTC		Charcot-Leyden crystal protein							200.0	163.0	175.0					19																	40224981		2203	4300	6503	SO:0001583	missense	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40224981G>A	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.245C>T	19.37:g.40224981G>A	ENSP00000221804:p.Pro82Leu						p.P82L	NM_001828	NP_001819	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	3	321	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	82			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	c.245C>T	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535343	0.27475	.	.	ENSG00000105205	ENST00000221804	T	0.10382	2.88	1.22	-0.217	0.13149	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.35128	0.0921	H	0.94964	3.605	0.09310	N	1	D	0.69078	0.997	D	0.68621	0.959	T	0.13019	-1.0525	9	0.87932	D	0	.	3.8347	0.08889	0.2915:0.0:0.7085:0.0	.	82	Q05315	LPPL_HUMAN	L	82	ENSP00000221804:P82L	ENSP00000221804:P82L	P	-	2	0	CLC	44916821	0.957000	0.32711	0.010000	0.14722	0.076000	0.17211	0.543000	0.23237	-0.265000	0.09352	0.187000	0.17357	CCC		0.537	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		9	90	0	0	0	0	9	90				
KIF1A	547	broad.mit.edu	37	2	241658530	241658530	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr2:241658530G>T	ENST00000320389.7	-	45	4962	c.4804C>A	c.(4804-4806)Ccc>Acc	p.P1602T	KIF1A_ENST00000498729.2_Missense_Mutation_p.P1703T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1602	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGCATAGGGGCGCCGCACC	0.617																																						uc002vzy.2		NA																	0				lung(1)	1						c.(4804-4806)CCC>ACC		axonal transport of synaptic vesicles							86.0	100.0	95.0					2																	241658530		2163	4273	6436	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658530G>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4804C>A	2.37:g.241658530G>T	ENSP00000322791:p.Pro1602Thr					KIF1A_uc010fzk.2_Missense_Mutation_p.P1703T|KIF1A_uc002vzw.2_Missense_Mutation_p.P263T|KIF1A_uc002vzx.2_Missense_Mutation_p.P329T	p.P1602T	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	45	4950	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1602			PH.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.4804C>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651390	0.88056	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.74632	-0.86;-0.86	4.06	4.06	0.47325	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	D	0.87249	0.6130	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90096	0.4181	10	0.87932	D	0	.	16.2399	0.82401	0.0:0.0:1.0:0.0	.	1703;1602	F5H045;Q12756	.;KIF1A_HUMAN	T	1602;1703;1711	ENSP00000322791:P1602T;ENSP00000438388:P1703T	ENSP00000322791:P1602T	P	-	1	0	KIF1A	241307203	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.462000	0.97649	1.818000	0.53035	0.467000	0.42956	CCC		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		8	93	1	0	1.13e-05	1.71e-05	8	93				
APCDD1L	164284	broad.mit.edu	37	20	57035926	57035926	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr20:57035926G>C	ENST00000371149.3	-	4	1656	c.1426C>G	c.(1426-1428)Ccc>Gcc	p.P476A	APCDD1L_ENST00000491015.1_5'Flank|APCDD1L_ENST00000439429.1_Missense_Mutation_p.P487A	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	476						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCTGTGCTGGGGTGCTTCTGC	0.612																																						uc002xze.1		NA																	0				ovary(1)	1						c.(1426-1428)CCC>GCC		adenomatosis polyposis coli down-regulated							56.0	53.0	54.0					20																	57035926		2203	4300	6503	SO:0001583	missense	164284					integral to membrane		g.chr20:57035926G>C	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1426C>G	20.37:g.57035926G>C	ENSP00000360191:p.Pro476Ala					APCDD1L_uc010zzp.1_Missense_Mutation_p.P487A	p.P476A	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1612	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		476						Missense_Mutation	SNP	ENST00000371149.3	37	c.1426C>G	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	8.212	0.800564	0.16397	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.12984	2.65;2.63	3.79	-2.59	0.06209	.	1.545810	0.04273	N	0.342454	T	0.06554	0.0168	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.32719	-0.9896	10	0.13108	T	0.6	.	0.4146	0.00447	0.3352:0.1604:0.3022:0.2023	.	487;476	F5H6V6;Q8NCL9	.;APCDL_HUMAN	A	476;487	ENSP00000360191:P476A;ENSP00000413261:P487A	ENSP00000360191:P476A	P	-	1	0	APCDD1L	56469332	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.137000	0.15995	-0.096000	0.12329	-0.444000	0.05651	CCC		0.612	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		12	55	0	0	0	0	12	55				
MORC2	22880	broad.mit.edu	37	22	31328614	31328614	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr22:31328614A>C	ENST00000397641.3	-	23	3073	c.2665T>G	c.(2665-2667)Tcc>Gcc	p.S889A	MORC2_ENST00000215862.4_Missense_Mutation_p.S827A|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	889						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AGGCATTCGGAAGTGGAGGGC	0.592																																						uc003aje.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2479-2481)TCC>GCC		MORC family CW-type zinc finger 2							108.0	84.0	92.0					22																	31328614		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31328614A>C	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2665T>G	22.37:g.31328614A>C	ENSP00000380763:p.Ser889Ala						p.S827A	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			24	3843	-			889					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.2479T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.01|15.01	2.706594|2.706594	0.48412|0.48412	.|.	.|.	ENSG00000133422|ENSG00000133422	ENST00000445980|ENST00000397641;ENST00000215862	.|T;T	.|0.18016	.|2.25;2.24	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.079962	.|0.52532	.|D	.|0.000061	T|T	0.38108|0.38108	0.1028|0.1028	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|D	.|0.67548	.|0.952	T|T	0.02844|0.02844	-1.1103|-1.1103	5|10	.|0.42905	.|T	.|0.14	.|.	16.4159|16.4159	0.83738|0.83738	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|889	.|Q9Y6X9	.|MORC2_HUMAN	C|A	50|889;827	.|ENSP00000380763:S889A;ENSP00000215862:S827A	.|ENSP00000215862:S827A	F|S	-|-	2|1	0|0	MORC2|MORC2	29658614|29658614	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.011000|0.011000	0.07611|0.07611	6.414000|6.414000	0.73318|0.73318	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	TTC|TCC		0.592	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		8	62	0	0	0	0	8	62				
PLXNA1	5361	broad.mit.edu	37	3	126707784	126707784	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr3:126707784G>T	ENST00000393409.2	+	1	348	c.348G>T	c.(346-348)aaG>aaT	p.K116N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.K93N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	116	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACGTCAACAAGCTGCTGCTGC	0.647																																						uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(277-279)AAG>AAT		plexin A1							50.0	47.0	48.0					3																	126707784		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707784G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.348G>T	3.37:g.126707784G>T	ENSP00000377061:p.Lys116Asn						p.K93N	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	283	+			116			Sema.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.279G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217441	0.39201	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.08370	3.1;3.1	3.56	1.67	0.24075	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	M	0.91300	3.195	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.12863	-1.0531	10	0.87932	D	0	.	8.7164	0.34414	0.2874:0.0:0.7126:0.0	.	116	Q9UIW2	PLXA1_HUMAN	N	116;93	ENSP00000377061:K116N;ENSP00000251772:K93N	ENSP00000251772:K93N	K	+	3	2	PLXNA1	128190474	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	2.277000	0.43417	0.713000	0.32060	0.313000	0.20887	AAG		0.647	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		8	55	1	0	1.13e-05	1.71e-05	8	55				
UGT2B4	7363	broad.mit.edu	37	4	70355227	70355227	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr4:70355227G>A	ENST00000305107.6	-	3	978	c.932C>T	c.(931-933)tCg>tTg	p.S311L	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.S175L|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S311L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	311					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACTGACCATCGACCCCAGAGA	0.373																																						uc003hek.3		NA																	0				skin(2)	2						c.(931-933)TCG>TTG		UDP glucuronosyltransferase 2B4 precursor							156.0	153.0	154.0					4																	70355227		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70355227G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.932C>T	4.37:g.70355227G>A	ENSP00000305221:p.Ser311Leu					UGT2B4_uc011cap.1_Missense_Mutation_p.S175L|UGT2B4_uc003hel.3_Missense_Mutation_p.S311L	p.S311L	NM_021139	NP_066962	P06133	UD2B4_HUMAN			3	979	-			311					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.932C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786025	0.31593	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.78364	-1.17;-1.17;2.18	2.25	2.25	0.28309	.	0.000000	0.64402	U	0.000004	D	0.90229	0.6945	H	0.96301	3.8	0.23936	N	0.996419	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.987;0.983;1.0	T	0.81206	-0.1038	10	0.87932	D	0	.	10.6411	0.45594	0.0:0.0:1.0:0.0	.	175;311;311	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	L	311;311;175	ENSP00000421290:S311L;ENSP00000305221:S311L;ENSP00000370486:S175L	ENSP00000305221:S311L	S	-	2	0	UGT2B4	70389816	1.000000	0.71417	0.016000	0.15963	0.028000	0.11728	6.693000	0.74582	1.596000	0.50062	0.306000	0.20318	TCG		0.373	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		40	166	0	0	0	0	40	166				
STC2	8614	broad.mit.edu	37	5	172755126	172755126	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr5:172755126C>A	ENST00000265087.4	-	1	1380	c.71G>T	c.(70-72)gGg>gTg	p.G24V		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	24					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGTCGGTCCCCCGCGCCGG	0.637																																						uc003mco.1		NA																	0				skin(2)|ovary(1)	3						c.(70-72)GGG>GTG		stanniocalcin 2 precursor							102.0	105.0	104.0					5																	172755126		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172755126C>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.71G>T	5.37:g.172755126C>A	ENSP00000265087:p.Gly24Val					STC2_uc003mcn.1_5'Flank	p.G24V	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1381	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	24						Missense_Mutation	SNP	ENST00000265087.4	37	c.71G>T	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896137	0.72639	.	.	ENSG00000113739	ENST00000265087	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.77918	-0.2408	9	0.62326	D	0.03	-33.512	17.0331	0.86466	0.0:1.0:0.0:0.0	.	24	O76061	STC2_HUMAN	V	24	.	ENSP00000265087:G24V	G	-	2	0	STC2	172687732	1.000000	0.71417	0.991000	0.47740	0.236000	0.25371	6.509000	0.73725	2.554000	0.86153	0.655000	0.94253	GGG		0.637	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		18	78	1	0	3.33e-07	5.25e-07	18	78				
SKIV2L	6499	broad.mit.edu	37	6	31928456	31928456	+	Silent	SNP	A	A	G			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr6:31928456A>G	ENST00000375394.2	+	6	596	c.483A>G	c.(481-483)gaA>gaG	p.E161E	SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank|NELFE_ENST00000375425.5_5'Flank|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	161					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGATGGATGAACCCACCATAA	0.527																																						uc003nyn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(481-483)GAA>GAG		superkiller viralicidic activity 2-like homolog							136.0	137.0	137.0					6																	31928456		2203	4300	6503	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31928456A>G		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.483A>G	6.37:g.31928456A>G						RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Silent_p.E3E|SKIV2L_uc011dov.1_Intron	p.E161E	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			6	872	+			161					O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.483A>G	CCDS4731.1																																																																																				0.527	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			36	127	0	0	0	0	36	127				
SKIV2L	6499	broad.mit.edu	37	6	31931705	31931705	+	Silent	SNP	C	C	T			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr6:31931705C>T	ENST00000375394.2	+	16	1776	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	SKIV2L_ENST00000544581.1_Silent_p.L362L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	555					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CGGAGTGTACCTGTCCCTCCT	0.622																																						uc003nyn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1663-1665)CTG>TTG		superkiller viralicidic activity 2-like homolog							197.0	231.0	219.0					6																	31931705		1508	2707	4215	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31931705C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1663C>T	6.37:g.31931705C>T						SKIV2L_uc011dou.1_Silent_p.L397L|SKIV2L_uc011dov.1_Silent_p.L362L	p.L555L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			16	2052	+			555					O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.1663C>T	CCDS4731.1																																																																																				0.622	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			66	165	0	0	0	0	66	165				
SCUBE3	222663	broad.mit.edu	37	6	35209013	35209013	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr6:35209013C>T	ENST00000274938.7	+	10	1165	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R405W	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGGCCAGGGTCGGCTGCACTG	0.582											OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003okf.1		NA																	0				skin(1)	1						c.(1165-1167)CGG>TGG		signal peptide, CUB domain, EGF-like 3							82.0	80.0	80.0					6																	35209013		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35209013C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1165C>T	6.37:g.35209013C>T	ENSP00000274938:p.Arg389Trp		OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	853	SCUBE3_uc003okg.1_Missense_Mutation_p.R388W|SCUBE3_uc003okh.1_Missense_Mutation_p.R276W	p.R389W	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			10	1171	+			389			EGF-like 9; calcium-binding (Potential).			Missense_Mutation	SNP	ENST00000274938.7	37	c.1165C>T	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128464	0.77549	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.87571	-2.27;-2.27	5.89	4.05	0.47172	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.142765	0.53938	D	0.000054	D	0.87771	0.6261	L	0.58669	1.825	0.36586	D	0.873814	D;D	0.71674	0.998;0.998	P;P	0.59643	0.861;0.857	D	0.89173	0.3538	10	0.87932	D	0	.	14.464	0.67470	0.4504:0.5496:0.0:0.0	.	405;389	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	W	405;389	ENSP00000378174:R405W;ENSP00000274938:R389W	ENSP00000274938:R389W	R	+	1	2	SCUBE3	35316991	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.265000	0.58865	0.769000	0.33313	-0.196000	0.12772	CGG		0.582	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		15	99	0	0	0	0	15	99				
FAM188B	84182	broad.mit.edu	37	7	30830851	30830851	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr7:30830851G>A	ENST00000265299.6	+	5	811	c.734G>A	c.(733-735)aGc>aAc	p.S245N	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	245										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAAGAAGAGAGCCGGAAGGTC	0.547																																						uc003tbt.2		NA																	0					0						c.(733-735)AGC>AAC		hypothetical protein LOC84182							108.0	117.0	114.0					7																	30830851		1945	4142	6087	SO:0001583	missense	84182							g.chr7:30830851G>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.734G>A	7.37:g.30830851G>A	ENSP00000265299:p.Ser245Asn					FAM188B_uc010kwe.2_Missense_Mutation_p.S216N	p.S245N	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			5	811	+			245					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.734G>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	3.471	-0.107931	0.06924	.	.	ENSG00000106125	ENST00000265299	T	0.24350	1.86	3.64	0.677	0.17964	.	0.663629	0.14764	N	0.299783	T	0.19604	0.0471	L	0.53249	1.67	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.30119	-0.9989	10	0.87932	D	0	-16.2332	1.9743	0.03412	0.1188:0.2273:0.4605:0.1934	.	245	Q4G0A6	F188B_HUMAN	N	245	ENSP00000265299:S245N	ENSP00000265299:S245N	S	+	2	0	FAM188B	30797376	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.370000	0.20433	0.135000	0.18707	-0.251000	0.11542	AGC		0.547	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		16	133	0	0	0	0	16	133				
ABCA13	154664	broad.mit.edu	37	7	48390325	48390325	+	Silent	SNP	C	C	T	rs371675186		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr7:48390325C>T	ENST00000435803.1	+	30	10314	c.10290C>T	c.(10288-10290)tgC>tgT	p.C3430C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3430					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTCTTCCTGCGTGGCACTGA	0.522																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(10288-10290)TGC>TGT		ATP binding cassette, sub-family A (ABC1),		C		0,4120		0,0,2060	134.0	132.0	132.0		10290	-7.3	0.0	7		132	2,8420		0,2,4209	no	coding-synonymous	ABCA13	NM_152701.3		0,2,6269	TT,TC,CC		0.0237,0.0,0.0159		3430/5059	48390325	2,12540	2060	4211	6271	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390325C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10290C>T	7.37:g.48390325C>T						ABCA13_uc010kys.1_Silent_p.C504C|ABCA13_uc003tos.1_Silent_p.C256C	p.C3430C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			30	10315	+			3430					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.10290C>T	CCDS47584.1																																																																																				0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		34	70	0	0	0	0	34	70				
SEMA3D	223117	broad.mit.edu	37	7	84651711	84651711	+	Silent	SNP	T	T	G			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr7:84651711T>G	ENST00000284136.6	-	11	1453	c.1410A>C	c.(1408-1410)ggA>ggC	p.G470G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	470	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCTTACCTGTTCCAAGAAACA	0.333																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	0				ovary(3)|large_intestine(2)	5						c.(1408-1410)GGA>GGC		semaphorin 3D precursor							181.0	167.0	172.0					7																	84651711		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84651711T>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1410A>C	7.37:g.84651711T>G						SEMA3D_uc010led.2_Silent_p.G470G|SEMA3D_uc003uib.2_Silent_p.G109G	p.G470G	NM_152754	NP_689967	O95025	SEM3D_HUMAN			11	1450	-			470			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.1410A>C	CCDS34676.1																																																																																				0.333	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		20	124	0	0	0	0	20	124				
ERICH1	157697	broad.mit.edu	37	8	642491	642491	+	Silent	SNP	C	C	G			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr8:642491C>G	ENST00000262109.7	-	3	368	c.291G>C	c.(289-291)ggG>ggC	p.G97G	ERICH1_ENST00000522706.1_Intron|ERICH1_ENST00000518277.1_5'UTR	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGTGTCATCCCCGCTGGAGG	0.557																																						uc003wph.2		NA																	0				large_intestine(2)	2						c.(289-291)GGG>GGC		glutamate-rich 1							77.0	82.0	80.0					8																	642491		2203	4300	6503	SO:0001819	synonymous_variant	157697							g.chr8:642491C>G		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.291G>C	8.37:g.642491C>G						ERICH1_uc011kwh.1_Silent_p.G97G|ERICH1_uc003wpe.1_Intron	p.G97G	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	3	356	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	97					A8K2J9|Q9P063	Silent	SNP	ENST00000262109.7	37	c.291G>C	CCDS5955.1																																																																																				0.557	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		6	88	0	0	0	0	6	88				
RUNX1T1	862	broad.mit.edu	37	8	92988161	92988161	+	Silent	SNP	G	G	A	rs537704114		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr8:92988161G>A	ENST00000523629.1	-	10	1774	c.1320C>T	c.(1318-1320)taC>taT	p.Y440Y	RUNX1T1_ENST00000360348.2_Silent_p.Y403Y|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000436581.2_Silent_p.Y451Y|RUNX1T1_ENST00000422361.2_Silent_p.Y403Y|RUNX1T1_ENST00000396218.1_Silent_p.Y413Y|RUNX1T1_ENST00000265814.3_Silent_p.Y440Y|RUNX1T1_ENST00000520724.1_Silent_p.Y403Y|RUNX1T1_ENST00000518844.1_Silent_p.Y413Y	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	440					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCTCTGGCACGTATCCAGACG	0.483													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16714	0.0		0.0	False		,,,				2504	0.0					uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1318-1320)TAC>TAT		acute myelogenous leukemia 1 translocation 1							127.0	126.0	126.0					8																	92988161		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92988161G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1320C>T	8.37:g.92988161G>A						RUNX1T1_uc003yfc.1_Silent_p.Y413Y|RUNX1T1_uc003yfe.1_Silent_p.Y403Y|RUNX1T1_uc010mao.2_Silent_p.Y413Y|RUNX1T1_uc011lgi.1_Silent_p.Y451Y|RUNX1T1_uc010man.1_Silent_p.Y65Y|RUNX1T1_uc003yfb.1_Silent_p.Y403Y	p.Y440Y	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1404	-			440					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.1320C>T	CCDS6256.1																																																																																				0.483	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		25	143	0	0	0	0	25	143				
NR6A1	2649	broad.mit.edu	37	9	127287138	127287138	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr9:127287138T>G	ENST00000487099.2	-	9	1373	c.1216A>C	c.(1216-1218)Acc>Ccc	p.T406P	NR6A1_ENST00000373584.3_Missense_Mutation_p.T402P|NR6A1_ENST00000344523.4_Missense_Mutation_p.T405P|NR6A1_ENST00000416460.2_Missense_Mutation_p.T401P	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	406					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GAGGCACTGGTCAGACCCCTG	0.413																																					Esophageal Squamous(192;272 2884 6208 20560)	uc004bor.1		NA																	0				ovary(3)	3						c.(1216-1218)ACC>CCC		nuclear receptor subfamily 6, group A, member 1							77.0	72.0	74.0					9																	127287138		2203	4300	6503	SO:0001583	missense	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127287138T>G	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1216A>C	9.37:g.127287138T>G	ENSP00000420267:p.Thr406Pro					NR6A1_uc004boq.1_Missense_Mutation_p.T401P|NR6A1_uc010mwq.1_Missense_Mutation_p.T402P	p.T406P	NM_033334	NP_201591	Q15406	NR6A1_HUMAN			9	1394	-			406					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.1216A>C	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.677648	0.47886	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	6.03	3.72	0.42706	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.333064	0.34959	N	0.003556	D	0.94009	0.8081	L	0.41573	1.285	0.40255	D	0.978114	P;P;P	0.42584	0.784;0.773;0.744	B;P;B	0.46885	0.284;0.53;0.271	D	0.91779	0.5434	10	0.33141	T	0.24	.	9.441	0.38668	0.0:0.1421:0.0:0.8579	.	402;406;401	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	P	406;402;401;405	ENSP00000420267:T406P;ENSP00000362686:T402P;ENSP00000413701:T401P;ENSP00000341135:T405P	ENSP00000341135:T405P	T	-	1	0	NR6A1	126326959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.029000	0.41098	1.096000	0.41439	0.533000	0.62120	ACC		0.413	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			11	22	0	0	0	0	11	22				
HRNR	388697	broad.mit.edu	37	1	152188526	152188527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr1:152188526_152188527insG	ENST00000368801.2	-	3	5653_5654	c.5578_5579insC	c.(5578-5580)cgafs	p.R1860fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1860					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCCACTGCTG	0.594																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(5578-5580)CGAfs		hornerin																																				SO:0001589	frameshift_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188526_152188527insG	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5579dupC	1.37:g.152188528_152188528dupG	ENSP00000357791:p.Arg1860fs						p.R1860fs	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5654_5655	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1860			20		Q5DT20|Q5U1F4	Frame_Shift_Ins	INS	ENST00000368801.2	37	c.5578_5579insC	CCDS30859.1																																																																																				0.594	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		12	793	NA	NA	NA	NA	12	793	---	---	---	---
MAPRE1	22919	broad.mit.edu	37	20	31424527	31424528	+	Frame_Shift_Del	DEL	TA	TA	-	rs142135206		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr20:31424527_31424528delTA	ENST00000375571.5	+	4	494_495	c.355_356delTA	c.(355-357)tatfs	p.Y119fs		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	119					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CGATGCAAACTATGATGGAAAA	0.411																																						uc002wyh.2		NA																	0					0						c.(355-357)TATfs		microtubule-associated protein, RP/EB family,																																				SO:0001589	frameshift_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31424527_31424528delTA	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.355_356delTA	20.37:g.31424527_31424528delTA	ENSP00000364721:p.Tyr119fs						p.Y119fs	NM_012325	NP_036457	Q15691	MARE1_HUMAN			4	494_495	+			119					B2R6I7|E1P5M8|Q3KQS8	Frame_Shift_Del	DEL	ENST00000375571.5	37	c.355_356delTA	CCDS13208.1																																																																																				0.411	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		14	111	NA	NA	NA	NA	14	111	---	---	---	---
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(337-339)tttfs	p.F113fs	ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.F113fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.F113fs			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	113						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.45																																						uc003sqi.2		NA																	2	Deletion - Frameshift(2)		ovary(1)|large_intestine(1)	breast(1)|pancreas(1)	2						c.(334-339)CTGTTTfs		zinc finger, DHHC-type containing 4																																				SO:0001589	frameshift_variant	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6621848_6621849insT	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.344dupT	7.37:g.6621856_6621856dupT	ENSP00000379934:p.Phe113fs					ZDHHC4_uc003sqg.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sql.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqk.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqm.2_Frame_Shift_Ins_p.L112fs	p.L112fs	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	6	694_695	+		Ovarian(82;0.232)	112_113			Helical; (Potential).		A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Frame_Shift_Ins	INS	ENST00000396706.2	37	c.336_337insT	CCDS5352.1																																																																																				0.450	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		7	258	NA	NA	NA	NA	7	258	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971048	21971058	+	Frame_Shift_Del	DEL	GCCGCGCCCCG	GCCGCGCCCCG	-	rs137854598|rs143282362|rs35741010|rs104894094		TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chr9:21971048_21971058delGCCGCGCCCCG	ENST00000304494.5	-	2	570_580	c.300_310delCGGGGCGCGGC	c.(298-312)gccggggcgcggctgfs	p.GARL101fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GARL101fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GARL50fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GARL50fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.RGAA115fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GARL50fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.RGAA115fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GARL101fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GARL101fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.RGAA156fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GARL50fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.GARL50fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	101			G -> W (in CMM2 and FAMMMPC; impairs the function). {ECO:0000269|PubMed:10874641, ECO:0000269|PubMed:7987387}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.A102V(3)|p.G101G(3)|p.A102A(2)|p.A102E(2)|p.L104fs*42(2)|p.H83fs*2(2)|p.R103Q(1)|p.A102fs*18(1)|p.R103R(1)|p.A102P(1)|p.0(1)|p.R103fs*43(1)|p.T93_D105del(1)|p.G101W(1)|p.A68fs*3(1)|p.A102T(1)|p.G101fs*17(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCACGTCCAGCCGCGCCCCGGCCCGGTGCA	0.758		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1385	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(9)|Deletion - Frameshift(7)|Substitution - coding silent(6)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.0?(1112)|p.?(13)|p.G101G(3)|p.A100S(3)|p.A102V(3)|p.L104fs*42(2)|p.A102A(2)|p.A102E(2)|p.A100P(2)|p.H83fs*2(2)|p.R103Q(1)|p.R103R(1)|p.T93_D105del(1)|p.A100V(1)|p.G101fs*17(1)|p.A68fs*3(1)|p.A102fs*18(1)|p.R103fs*43(1)|p.G101W(1)|p.A102P(1)|p.A102T(1)|p.A102fs*42(1)	haematopoietic_and_lymphoid_tissue(284)|skin(174)|central_nervous_system(169)|lung(147)|urinary_tract(91)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(56)|oesophagus(54)|pleura(51)|ovary(37)|kidney(32)|breast(32)|pancreas(31)|biliary_tract(14)|thyroid(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|liver(8)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CD062128|CD982535|CI044189|CM043784|CM056559|CM940230	CDKN2A|p14arf	D|I|M	rs104894094|rs143282362|rs35741010	c.(298-312)GCCGGGGCGCGGCTGfs		cyclin-dependent kinase inhibitor 2A isoform 1																																				SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971048_21971058delGCCGCGCCCCG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.300_310delCGGGGCGCGGC	9.37:g.21971048_21971058delGCCGCGCCCCG	ENSP00000307101:p.Gly101fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.R156fs	p.A100fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	512_522	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	100_104		Missing.	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.300_310delCGGGGCGCGGC	CCDS6510.1																																																																																				0.758	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	38	NA	NA	NA	NA	7	38	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152083334	152083334	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-6229-01A-11D-1912-08	TCGA-CQ-6229-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	07e76152-9e83-42a5-9111-c39a2310a2e4	ab416480-3676-4775-92ba-fddf2deda045	g.chrX:152083334delA	ENST00000370268.4	+	2	152	c.115delA	c.(115-117)aagfs	p.K39fs	ZNF185_ENST00000370270.2_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000539731.1_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000318504.7_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000535861.1_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000449285.2_Frame_Shift_Del_p.K39fs			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	39						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGGGGACAAGAGCTGGAT	0.607																																						uc010ntv.1		NA																	0				ovary(3)	3						c.(115-117)AAGfs		zinc finger protein 185							33.0	32.0	32.0					X																	152083334		2132	4214	6346	SO:0001589	frameshift_variant	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152083334delA	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.115delA	X.37:g.152083334delA	ENSP00000359291:p.Lys39fs					ZNF185_uc011myg.1_Frame_Shift_Del_p.K39fs|ZNF185_uc011myh.1_Frame_Shift_Del_p.K39fs|ZNF185_uc011myi.1_Frame_Shift_Del_p.K39fs|ZNF185_uc011myj.1_Frame_Shift_Del_p.K39fs|ZNF185_uc011myk.1_Frame_Shift_Del_p.K39fs	p.K39fs	NM_007150	NP_009081	O15231	ZN185_HUMAN			2	152	+	Acute lymphoblastic leukemia(192;6.56e-05)		39					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Frame_Shift_Del	DEL	ENST00000370268.4	37	c.115delA	CCDS48184.1																																																																																				0.607	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		2	4	NA	NA	NA	NA	2	4	---	---	---	---
