#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NOP9	161424	broad.mit.edu	37	14	24774190	24774190	+	Silent	SNP	G	G	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr14:24774190G>T	ENST00000267425.3	+	10	1893	c.1800G>T	c.(1798-1800)gtG>gtT	p.V600V	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	600							poly(A) RNA binding (GO:0044822)										GCCACCATGTGGCTCGAAATG	0.552																																						uc001wol.1																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17						c.(1798-1800)gtG>gtT		Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.							62.0	57.0	59.0					14																	24774190		2203	4300	6503	SO:0001819	synonymous_variant	161424						RNA binding	g.chr14:24774190G>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1800G>T	14.37:g.24774190G>T			Somatic				C14orf21_uc001wom.1_Silent_p.V151V	p.V600V	NM_174913	NP_777573	WXS	Illumina GAIIx	Phase_I	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	9	1863	+			600					A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.1800G>T	CCDS9624.1																																																																																				0.552	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			29	60	0	0	0	1	0	29	60				
GOT1L1	137362	broad.mit.edu	37	8	37795175	37795175	+	Silent	SNP	G	G	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr8:37795175G>A	ENST00000307599.4	-	3	489	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	130					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			AAGAGATGATGTAAACTATAC	0.498																																						uc011lbj.1																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(388-390)taC>taT		Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.							62.0	63.0	63.0					8																	37795175		2000	4173	6173	SO:0001819	synonymous_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37795175G>A	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.390C>T	8.37:g.37795175G>A			Somatic					p.Y130Y	NM_152413	NP_689626	WXS	Illumina GAIIx	Phase_I	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		2	490	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	130					A8MWL4	Silent	SNP	ENST00000307599.4	37	c.390C>T	CCDS47839.1																																																																																				0.498	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		10	14	0	0	0	1	0	10	14				
CPSF3	51692	broad.mit.edu	37	2	9570993	9570993	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr2:9570993G>A	ENST00000238112.3	+	4	531	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CPSF3_ENST00000460593.1_Missense_Mutation_p.D72N	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	109					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCTTCTTTCTGATTATGTCAA	0.348																																					Colon(194;1259 2048 3845 5218 19985)	uc002qzo.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(325-327)Gat>Aat		Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.							94.0	99.0	98.0					2																	9570993		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding	g.chr2:9570993G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.325G>A	2.37:g.9570993G>A	ENSP00000238112:p.Asp109Asn		Somatic				CPSF3_uc010ewx.1_Missense_Mutation_p.D109N|CPSF3_uc002qzp.1_Missense_Mutation_p.D72N	p.D109N	NM_016207	NP_057291	WXS	Illumina GAIIx	Phase_I	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	3	360	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	109					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.325G>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037056	0.93630	.	.	ENSG00000119203	ENST00000238112;ENST00000475482;ENST00000427001;ENST00000460593	T;T;T	0.60672	0.17;0.17;0.17	5.65	5.65	0.86999	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;0.981	D;D	0.77004	0.989;0.966	D	0.87595	0.2493	10	0.72032	D	0.01	-6.0454	19.7341	0.96195	0.0:0.0:1.0:0.0	.	109;109	E7ER23;Q9UKF6	.;CPSF3_HUMAN	N	109;72;109;72	ENSP00000238112:D109N;ENSP00000419744:D72N;ENSP00000418957:D72N	ENSP00000238112:D109N	D	+	1	0	CPSF3	9488444	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	9.759000	0.98931	2.672000	0.90937	0.650000	0.86243	GAT		0.348	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		20	46	0	0	0	1	0	20	46				
ZPBP	11055	broad.mit.edu	37	7	50057890	50057890	+	Silent	SNP	T	T	C			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr7:50057890T>C	ENST00000046087.2	-	6	798	c.729A>G	c.(727-729)aaA>aaG	p.K243K	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.K242K	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	243					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCTTGGGTCCTTTTTCAGTGT	0.294																																						uc003tou.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(727-729)aaA>aaG		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.							91.0	89.0	90.0					7																	50057890		2203	4300	6503	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50057890T>C	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.729A>G	7.37:g.50057890T>C			Somatic				ZPBP_uc010kyw.3_Silent_p.K242K	p.K243K	NM_007009	NP_008940	WXS	Illumina GAIIx	Phase_I	Q9BS86	ZPBP1_HUMAN			5	799	-	Glioma(55;0.08)|all_neural(89;0.245)		243					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.729A>G	CCDS5509.1																																																																																				0.294	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		3	55	0	0	0	1	0	3	55				
TRHDE	29953	broad.mit.edu	37	12	73012793	73012793	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr12:73012793G>A	ENST00000261180.4	+	13	2405	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	770					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACTGGACCGCATGGAAAAC	0.333																																						uc001sxa.3																			0		p.R770C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2308-2310)cGc>cAc		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							43.0	46.0	45.0					12																	73012793		2200	4300	6500	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73012793G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2309G>A	12.37:g.73012793G>A	ENSP00000261180:p.Arg770His		Somatic					p.R770H	NM_013381	NP_037513	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			12	2339	+			770					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2309G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957892	0.73902	.	.	ENSG00000072657	ENST00000261180	T	0.05580	3.42	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00035	-1.2260	10	0.35671	T	0.21	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	770	Q9UKU6	TRHDE_HUMAN	H	770	ENSP00000261180:R770H	ENSP00000261180:R770H	R	+	2	0	TRHDE	71299060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.055000	0.93873	2.885000	0.99019	0.655000	0.94253	CGC		0.333	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		3	68	0	0	0	1	0	3	68				
TENM1	10178	broad.mit.edu	37	X	123556255	123556255	+	Silent	SNP	G	G	C	rs369708233		TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chrX:123556255G>C	ENST00000371130.3	-	23	4380	c.4317C>G	c.(4315-4317)ctC>ctG	p.L1439L	TENM1_ENST00000422452.2_Silent_p.L1446L|STAG2_ENST00000469481.1_3'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1439					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGCTATGAAGAGCAGCCCGC	0.537																																						uc010nqy.3																			0				NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(4336-4338)ctC>ctG		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.		G	,,	1,3834		0,0,1,1632,570	158.0	120.0	133.0		4338,4335,4317	3.8	1.0	X		133	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	,,	0,0,1,4060,2442	CC,CG,C,GG,G		0.0,0.0261,0.0095	,,	1446/2733,1445/2732,1439/2726	123556255	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123556255G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4317C>G	X.37:g.123556255G>C			Somatic				ODZ1_uc011muj.2_Silent_p.L1445L|ODZ1_uc004euj.3_Silent_p.L1439L	p.L1446L	NM_001163278	NP_001156750	WXS	Illumina GAIIx	Phase_I	Q9UKZ4	TEN1_HUMAN			23	4402	-			1439					B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.4338C>G	CCDS14609.1																																																																																				0.537	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		6	209	0	0	0	1	0	6	209				
PGM5	5239	broad.mit.edu	37	9	70999448	70999448	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr9:70999448A>G	ENST00000396396.1	+	3	788	c.559A>G	c.(559-561)Aaa>Gaa	p.K187E	PGM5_ENST00000396392.1_Missense_Mutation_p.K187E|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	187					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAACAAATTCAAACCATTCAG	0.378																																						uc004agr.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(559-561)Aaa>Gaa		Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.							60.0	59.0	60.0					9																	70999448		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70999448A>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.559A>G	9.37:g.70999448A>G	ENSP00000379678:p.Lys187Glu		Somatic					p.K187E	NM_021965	NP_068800	WXS	Illumina GAIIx	Phase_I	Q15124	PGM5_HUMAN			2	788	+			187					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.559A>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	14.18	2.458050	0.43634	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.62941	-0.01;-0.01	4.36	4.36	0.52297	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.054741	0.64402	U	0.000001	T	0.48589	0.1508	L	0.27053	0.805	0.50171	D	0.999856	B	0.10296	0.003	B	0.06405	0.002	T	0.45026	-0.9289	10	0.42905	T	0.14	.	12.8119	0.57645	1.0:0.0:0.0:0.0	.	187	Q15124	PGM5_HUMAN	E	187	ENSP00000379678:K187E;ENSP00000379674:K187E	ENSP00000379674:K187E	K	+	1	0	PGM5	70189268	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.105000	0.77031	1.712000	0.51347	0.467000	0.42956	AAA		0.378	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		27	49	0	0	0	1	0	27	49				
RBM47	54502	broad.mit.edu	37	4	40440487	40440487	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr4:40440487G>A	ENST00000381793.2	-	3	820	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	RBM47_ENST00000514014.1_Missense_Mutation_p.L104F|RBM47_ENST00000381795.6_Missense_Mutation_p.L142F|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.L142F|RBM47_ENST00000295971.7_Missense_Mutation_p.L142F			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	142	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CACACGCCGAGCAGGCGGCCC	0.622																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(424-426)Ctc>Ttc		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							43.0	38.0	39.0					4																	40440487		2203	4300	6503	SO:0001583	missense	54502					nucleus	RNA binding|nucleotide binding	g.chr4:40440487G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.424C>T	4.37:g.40440487G>A	ENSP00000371212:p.Leu142Phe		Somatic				RBM47_uc003gvd.2_Missense_Mutation_p.L142F|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.L104F|RBM47_uc003gvg.1_Missense_Mutation_p.L142F	p.L142F	NM_001098634	NP_001092104	WXS	Illumina GAIIx	Phase_I	A0AV96	RBM47_HUMAN			3	1134	-			142			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.424C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414495	0.42817	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414	T;T;T;T;T;T;T;T	0.57107	2.97;0.42;2.97;0.42;0.42;2.97;0.42;0.42	5.78	5.78	0.91487	RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.92219	3.285	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.969	T	0.81239	-0.1023	10	0.87932	D	0	-21.5585	10.4174	0.44329	0.1444:0.0:0.8556:0.0	.	142;142	A0AV96-2;A0AV96	.;RBM47_HUMAN	F	142;142;142;142;104;142;142;142	ENSP00000320108:L142F;ENSP00000371212:L142F;ENSP00000371214:L142F;ENSP00000295971:L142F;ENSP00000423243:L104F;ENSP00000422564:L142F;ENSP00000421589:L142F;ENSP00000423527:L142F	ENSP00000295971:L142F	L	-	1	0	RBM47	40135244	1.000000	0.71417	0.999000	0.59377	0.095000	0.18619	4.255000	0.58804	2.740000	0.93945	0.313000	0.20887	CTC		0.622	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		3	63	0	0	0	1	0	3	63				
CASZ1	54897	broad.mit.edu	37	1	10714607	10714607	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr1:10714607C>T	ENST00000377022.3	-	10	2024	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.M569I	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	569					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCTCGTGGGTCATCACGTCAG	0.597																																						uc001aro.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1705-1707)atG>atA		Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.							251.0	227.0	236.0					1																	10714607		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714607C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1707G>A	1.37:g.10714607C>T	ENSP00000366221:p.Met569Ile		Somatic				CASZ1_uc001arp.1_Missense_Mutation_p.M569I|CASZ1_uc009vmx.2_Missense_Mutation_p.M593I	p.M569I	NM_001079843	NP_001073312	WXS	Illumina GAIIx	Phase_I	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	2027	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	569					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1707G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280048	0.80692	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	N	0.22421	0.69	0.54753	D	0.999989	B;P;P	0.46952	0.335;0.669;0.887	B;B;P	0.62184	0.188;0.259;0.899	T	0.66126	-0.6001	9	0.49607	T	0.09	-28.3319	18.6257	0.91336	0.0:1.0:0.0:0.0	.	593;569;569	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	I	569	.	ENSP00000339445:M569I	M	-	3	0	CASZ1	10637194	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.424000	0.80242	2.478000	0.83669	0.561000	0.74099	ATG		0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		6	286	0	0	0	1	0	6	286				
BCL11A	53335	broad.mit.edu	37	2	60688216	60688216	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr2:60688216C>T	ENST00000335712.6	-	4	2058	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	BCL11A_ENST00000537768.1_Missense_Mutation_p.E280K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.E577K|BCL11A_ENST00000538214.1_Missense_Mutation_p.E577K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E611K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	611					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGGCCGACTCGCCCGGGGAG	0.662			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1831-1833)Gag>Aag		Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.							13.0	17.0	15.0					2																	60688216		2139	4227	6366	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688216C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1831G>A	2.37:g.60688216C>T	ENSP00000338774:p.Glu611Lys		Somatic				BCL11A_uc002sab.3_Missense_Mutation_p.E611K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E280K|BCL11A_uc010ypj.2_Missense_Mutation_p.E577K|BCL11A_uc002sad.1_Missense_Mutation_p.E459K|BCL11A_uc002saf.1_Missense_Mutation_p.E577K	p.E611K	NM_022893	NP_075044	WXS	Illumina GAIIx	Phase_I	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	2059	-			611					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1831G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110620	0.56398	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09630	2.96;3.23;3.13;3.25;3.18	6.17	6.17	0.99709	.	0.329559	0.31809	N	0.007030	T	0.25494	0.0620	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.993;0.988;0.979;0.994	P;B;P;B;P	0.56788	0.806;0.439;0.548;0.342;0.738	T	0.00699	-1.1604	10	0.15952	T	0.53	-3.0403	20.8794	0.99867	0.0:1.0:0.0:0.0	.	577;280;577;611;611	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	K	611;636;577;280;611;577	ENSP00000349300:E611K;ENSP00000438303:E577K;ENSP00000443712:E280K;ENSP00000338774:E611K;ENSP00000351307:E577K	ENSP00000338774:E611K	E	-	1	0	BCL11A	60541720	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.813000	0.86123	2.941000	0.99782	0.655000	0.94253	GAG		0.662	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		16	29	0	0	0	1	0	16	29				
TRIM46	80128	broad.mit.edu	37	1	155147749	155147749	+	Intron	SNP	G	G	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr1:155147749G>A	ENST00000334634.4	+	2	63				KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000368385.4_Intron|TRIM46_ENST00000368382.1_Intron|TRIM46_ENST00000368383.3_Intron|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000468878.1_Splice_Site|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000543729.1_Intron|TRIM46_ENST00000392451.2_Intron|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAAGCTGCAGGTAGCTTGTCT	0.582																																						uc001fhw.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.e2+1		Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.																																				SO:0001627	intron_variant	80128					intracellular	zinc ion binding	g.chr1:155147749G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.64-113G>A	1.37:g.155147749G>A			Somatic				KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Intron|TRIM46_uc010pez.1_Intron|TRIM46_uc001fhq.3_Intron|TRIM46_uc001fhr.3_Intron|TRIM46_uc001fhs.1_Intron|TRIM46_uc001fht.1_Intron|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Intron|TRIM46_uc009wpg.1_Intron|TRIM46_uc009wpf.2_Intron				WXS	Illumina GAIIx	Phase_I	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2		+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)							A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Splice_Site	SNP	ENST00000334634.4	37	c.302_splice	CCDS1097.1																																																																																				0.582	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		3	47	0	0	0	1	0	3	47				
COL4A5	1287	broad.mit.edu	37	X	107812034	107812034	+	Missense_Mutation	SNP	G	G	A	rs104886046		TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chrX:107812034G>A	ENST00000361603.2	+	6	611	c.367G>A	c.(367-369)Gga>Aga	p.G123R	COL4A5_ENST00000328300.6_Missense_Mutation_p.G123R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	123	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTATTCCCGGATGCAATGG	0.383									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(367-369)Gga>Aga		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							89.0	84.0	85.0					X																	107812034		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107812034G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.367G>A	X.37:g.107812034G>A	ENSP00000354505:p.Gly123Arg		Somatic				COL4A5_uc004enz.1_Missense_Mutation_p.G123R	p.G123R	NM_033380	NP_203699	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			5	569	+			123			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.367G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729193	0.69074	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99186	-5.53;-5.53	4.89	4.89	0.63831	.	0.062950	0.64402	D	0.000006	D	0.99597	0.9854	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97575	1.0107	10	0.87932	D	0	.	17.3152	0.87221	0.0:0.0:1.0:0.0	.	123;123	E7EVY4;P29400	.;CO4A5_HUMAN	R	123	ENSP00000331902:G123R;ENSP00000354505:G123R	ENSP00000331902:G123R	G	+	1	0	COL4A5	107698690	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.860000	0.92272	2.270000	0.75569	0.600000	0.82982	GGA		0.383	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			55	104	0	0	0	1	0	55	104				
TRIM36	55521	broad.mit.edu	37	5	114482788	114482788	+	Missense_Mutation	SNP	G	G	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr5:114482788G>T	ENST00000282369.3	-	3	723	c.602C>A	c.(601-603)cCa>cAa	p.P201Q	TRIM36_ENST00000513154.1_Missense_Mutation_p.P189Q|TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000514154.1_Missense_Mutation_p.P46Q|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	201					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTTAGTAGTTGGACCAACATA	0.328																																						uc003kqs.3																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(601-603)cCa>cAa		Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.							81.0	82.0	81.0					5																	114482788		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114482788G>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.602C>A	5.37:g.114482788G>T	ENSP00000282369:p.Pro201Gln		Somatic				TRIM36_uc011cwc.2_Missense_Mutation_p.P189Q|TRIM36_uc003kqt.3_Missense_Mutation_p.P46Q	p.P201Q	NM_018700	NP_061170	WXS	Illumina GAIIx	Phase_I	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	1111	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	201					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.602C>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536008	0.85812	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	D;D;T	0.87571	-2.27;-2.27;-0.53	5.49	5.49	0.81192	.	0.196250	0.56097	D	0.000035	D	0.94647	0.8274	M	0.90309	3.105	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.65684	0.843;0.937	D	0.95351	0.8447	10	0.87932	D	0	.	19.3708	0.94484	0.0:0.0:1.0:0.0	.	189;201	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Q	201;189;46	ENSP00000282369:P201Q;ENSP00000423934:P189Q;ENSP00000424259:P46Q	ENSP00000282369:P201Q	P	-	2	0	TRIM36	114510687	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.338000	0.96553	2.571000	0.86741	0.467000	0.42956	CCA		0.328	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		15	29	0	0	0	1	0	15	29				
RAPGEF6	51735	broad.mit.edu	37	5	130769300	130769300	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr5:130769300T>A	ENST00000509018.1	-	25	4002	c.3797A>T	c.(3796-3798)cAt>cTt	p.H1266L	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H1274L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1274L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H1279L|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.H1316L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1266	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATCTCACTATGGCTGGAGTC	0.448																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvp.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(3946-3948)cAt>cTt		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.							116.0	106.0	109.0					5																	130769300		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	g.chr5:130769300T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3797A>T	5.37:g.130769300T>A	ENSP00000421684:p.His1266Leu		Somatic				RAPGEF6_uc003kvo.2_Missense_Mutation_p.H1279L|RAPGEF6_uc010jdi.2_Missense_Mutation_p.H1274L|RAPGEF6_uc010jdj.2_Missense_Mutation_p.H1274L|RAPGEF6_uc003kvn.2_Missense_Mutation_p.H1266L|RAPGEF6_uc003kvm.2_Missense_Mutation_p.H189L	p.H1316L	NM_016340	NP_057424	WXS	Illumina GAIIx	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	25	4089	-			1266			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.3947A>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	31	5.086001	0.94100	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.29142	1.68;1.58;1.59;1.68;1.78	5.83	5.83	0.93111	.	0.140369	0.64402	D	0.000005	T	0.52725	0.1752	M	0.68952	2.095	0.80722	D	1	D;P;P;D;P	0.60160	0.978;0.599;0.599;0.987;0.599	P;B;B;P;B	0.62813	0.809;0.284;0.284;0.907;0.284	T	0.55231	-0.8173	10	0.72032	D	0.01	.	16.2141	0.82191	0.0:0.0:0.0:1.0	.	1274;1274;1316;1279;1266	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	L	1266;1279;1274;1274;1279;1316	ENSP00000421684:H1266L;ENSP00000309298:H1279L;ENSP00000426081:H1274L;ENSP00000296859:H1274L;ENSP00000426948:H1316L	ENSP00000426948:H1316L	H	-	2	0	RAPGEF6;FNIP1	130797199	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.160000	0.77495	2.224000	0.72417	0.528000	0.53228	CAT		0.448	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		32	62	0	0	0	1	0	32	62				
MUC13	56667	broad.mit.edu	37	3	124629312	124629312	+	Silent	SNP	G	G	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr3:124629312G>T	ENST00000311075.3	-	10	1322	c.1284C>A	c.(1282-1284)atC>atA	p.I428I		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	429					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAATGCCAGCGATGGTGCCCA	0.403																																						uc003ehq.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(1282-1284)atC>atA		Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.							82.0	77.0	78.0					3																	124629312		2203	4300	6503	SO:0001819	synonymous_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124629312G>T	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1284C>A	3.37:g.124629312G>T			Somatic					p.I428I	NM_033049	NP_149038	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			9	1323	-			428					Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37	c.1284C>A																																																																																					0.403	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		22	103	0	0	0	1	0	22	103				
