#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NEFM	4741	broad.mit.edu	37	8	24775449	24775449	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:24775449C>A	ENST00000221166.5	+	3	2863	c.2081C>A	c.(2080-2082)gCa>gAa	p.A694E	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000437366.2_Missense_Mutation_p.A655E			P07197	NFM_HUMAN	neurofilament, medium polypeptide	694	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aagtcaaaagcagaagtgggg	0.448																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2080-2082)gCa>gAa		neurofilament, medium polypeptide							55.0	61.0	59.0					8																	24775449		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775449C>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2081C>A	8.37:g.24775449C>A	ENSP00000221166:p.Ala694Glu					NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000518131.1_Intron	p.A694E			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2863	+		Prostate(55;0.157)	694			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2081C>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	0.449	-0.894695	0.02491	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.94000	-1.75;-1.71;-3.33	3.31	1.27	0.21489	.	1.034630	0.07695	N	0.939325	D	0.87164	0.6109	L	0.39898	1.24	0.21897	N	0.99949	B	0.06786	0.001	B	0.01281	0.0	T	0.69745	-0.5062	10	0.08837	T	0.75	.	5.5964	0.17329	0.3864:0.5152:0.0:0.0985	.	694	P07197	NFM_HUMAN	E	694;655;318	ENSP00000221166:A694E;ENSP00000410137:A655E;ENSP00000412295:A318E	ENSP00000221166:A694E	A	+	2	0	NEFM	24831354	0.001000	0.12720	0.001000	0.08648	0.559000	0.35586	0.288000	0.18939	-0.005000	0.14395	0.205000	0.17691	GCA		0.448	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		3	55	3	55	---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28385111	28385111	+	Silent	SNP	A	A	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:28385111A>T	ENST00000240093.3	+	5	1312	c.834A>T	c.(832-834)acA>acT	p.T278T	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Silent_p.T278T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	278					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T278T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CCACAGTGACACAAGGATCTC	0.388																																						ENST00000240093.3																			1	Substitution - coding silent(1)	p.T278T(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(832-834)acA>acT		frizzled family receptor 3							89.0	90.0	90.0					8																	28385111		2203	4300	6503	SO:0001819	synonymous_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385111A>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.834A>T	8.37:g.28385111A>T						FZD3_ENST00000537916.1_Silent_p.T278T	p.T278T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1312	+		Ovarian(32;2.06e-05)	278					A8K615	Silent	SNP	ENST00000240093.3	37	c.834A>T	CCDS6069.1																																																																																				0.388	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		9	206	9	206	---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62212651	62212651	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:62212651G>T	ENST00000519846.1	+	3	737	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	89					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.D89Y(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCACCAAGCGGATGCCTTTAG	0.483																																						ENST00000519846.1																			1	Substitution - Missense(1)	p.D89Y(1)	prostate(1)	endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(265-267)Gat>Tat		clavesin 1							92.0	82.0	85.0					8																	62212651		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212651G>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.265G>T	8.37:g.62212651G>T	ENSP00000428402:p.Asp89Tyr					CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y	p.D89Y			Q8IUQ0	CLVS1_HUMAN			3	737	+			89					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.265G>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402229	0.83230	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.86297	-2.1;-2.1	5.79	4.92	0.64577	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.104606	0.64402	D	0.000005	D	0.88654	0.6495	L	0.38175	1.15	0.51767	D	0.999932	P;D	0.58970	0.917;0.984	P;P	0.61592	0.612;0.891	D	0.87521	0.2446	9	.	.	.	-4.8864	14.6939	0.69107	0.0691:0.0:0.9309:0.0	.	89;89	Q8IUQ0;Q8IUQ0-2	CLVS1_HUMAN;.	Y	89	ENSP00000428402:D89Y;ENSP00000325506:D89Y	.	D	+	1	0	CLVS1	62375205	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.466000	0.48025	0.655000	0.94253	GAT		0.483	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		5	91	5	91	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106814115	106814115	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:106814115C>T	ENST00000407775.2	+	8	2055	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	602					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T602I(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTGGCCAAACCTCCATAAAC	0.458																																						ENST00000407775.2																			1	Substitution - Missense(1)	p.T602I(1)	prostate(1)	NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1804-1806)aCc>aTc		zinc finger protein, FOG family member 2							114.0	114.0	114.0					8																	106814115		1948	4157	6105	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814115C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1805C>T	8.37:g.106814115C>T	ENSP00000384179:p.Thr602Ile					RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.T602I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2055	+			602					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1805C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428815	0.25726	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19938	2.11;2.57;2.57;3.8	5.74	3.89	0.44902	.	0.320986	0.36555	N	0.002538	T	0.10465	0.0256	N	0.14661	0.345	0.46901	D	0.999248	B	0.34103	0.437	B	0.28638	0.092	T	0.12967	-1.0527	10	0.49607	T	0.09	.	7.4748	0.27369	0.3488:0.4232:0.2281:0.0	.	602	Q8WW38	FOG2_HUMAN	I	602;470;470;333	ENSP00000384179:T602I;ENSP00000430757:T470I;ENSP00000428720:T470I;ENSP00000367733:T333I	ENSP00000367733:T333I	T	+	2	0	ZFPM2	106883291	0.904000	0.30761	0.986000	0.45419	0.985000	0.73830	0.781000	0.26774	1.424000	0.47217	0.655000	0.94253	ACC		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			16	179	16	179	---	---	---	---
USP20	10868	broad.mit.edu	37	9	132641857	132641857	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr9:132641857C>T	ENST00000315480.4	+	24	2676	c.2518C>T	c.(2518-2520)Ccc>Tcc	p.P840S	USP20_ENST00000372429.3_Missense_Mutation_p.P840S|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	840	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGCAGAGCCCCCCGGGCCCAT	0.662																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(2518-2520)Ccc>Tcc		ubiquitin specific peptidase 20							57.0	66.0	63.0					9																	132641857		2005	4164	6169	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132641857C>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2518C>T	9.37:g.132641857C>T	ENSP00000313811:p.Pro840Ser					USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000372429.3_Missense_Mutation_p.P840S	p.P840S			Q9Y2K6	UBP20_HUMAN			24	2676	+		Ovarian(14;0.00556)	840			DUSP 2.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.2518C>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453740	0.84209	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.26810	1.71;1.71;1.71	5.03	5.03	0.67393	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.114202	0.64402	D	0.000015	T	0.49150	0.1540	H	0.94620	3.56	0.80722	D	1	P	0.45672	0.864	P	0.44359	0.447	T	0.67432	-0.5672	10	0.87932	D	0	.	17.7054	0.88308	0.0:1.0:0.0:0.0	.	840	Q9Y2K6	UBP20_HUMAN	S	840	ENSP00000361506:P840S;ENSP00000313811:P840S;ENSP00000351122:P840S	ENSP00000313811:P840S	P	+	1	0	USP20	131681678	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	7.305000	0.78891	2.498000	0.84270	0.655000	0.94253	CCC		0.662	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			5	81	5	81	---	---	---	---
ACBD7	414149	broad.mit.edu	37	10	15120540	15120540	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr10:15120540A>C	ENST00000356189.5	-	4	303	c.256T>G	c.(256-258)Tac>Gac	p.Y86D	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	86	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.Y86D(1)		endometrium(1)|lung(4)|prostate(1)	6						TAAATTCCGTATTTTTCTATC	0.393																																						ENST00000356189.5																			1	Substitution - Missense(1)	p.Y86D(1)	prostate(1)	endometrium(1)|lung(4)|prostate(1)	6						c.(256-258)Tac>Gac		acyl-CoA binding domain containing 7							142.0	149.0	147.0					10																	15120540		2203	4300	6503	SO:0001583	missense	414149						fatty-acyl-CoA binding	g.chr10:15120540A>C	AK095538	CCDS31153.1	10p13	2010-08-05	2010-04-30		ENSG00000176244	ENSG00000176244			17715	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 7"""				Standard	NM_001039844		Approved	FLJ38219, bA455B2.2	uc010qby.1	Q8N6N7	OTTHUMG00000017725	ENST00000356189.5:c.256T>G	10.37:g.15120540A>C	ENSP00000367453:p.Tyr86Asp					ACBD7_ENST00000496890.1_5'UTR	p.Y86D	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN			4	303	-			86			ACB.		A6NCI2|B3KTG8	Missense_Mutation	SNP	ENST00000356189.5	37	c.256T>G	CCDS31153.1	.	.	.	.	.	.	.	.	.	.	a	12.71	2.019271	0.35606	.	.	ENSG00000176244	ENST00000356189	T	0.19250	2.16	4.72	3.57	0.40892	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.069679	0.64402	N	0.000016	T	0.21307	0.0513	.	.	.	0.53005	D	0.999961	B	0.27700	0.186	B	0.32724	0.151	T	0.04607	-1.0939	9	0.87932	D	0	-21.5336	10.5031	0.44817	0.8378:0.1622:0.0:0.0	.	86	Q8N6N7	ACBD7_HUMAN	D	86	ENSP00000367453:Y86D	ENSP00000367453:Y86D	Y	-	1	0	ACBD7	15160546	1.000000	0.71417	0.996000	0.52242	0.608000	0.37181	3.627000	0.54252	0.813000	0.34350	0.459000	0.35465	TAC		0.393	ACBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046972.2			20	212	20	212	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36597450	36597450	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr11:36597450G>A	ENST00000299440.5	+	2	2708	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	866					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V866M(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAAAGAGACTGTGGATGCAGT	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			2	Substitution - Missense(2)	p.V866M(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2596-2598)Gtg>Atg		recombination activating gene 1							122.0	117.0	119.0					11																	36597450		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597450G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2596G>A	11.37:g.36597450G>A	ENSP00000299440:p.Val866Met						p.V866M	NM_000448.2	NP_000439	P15918	RAG1_HUMAN			2	2708	+	all_lung(20;0.226)	all_hematologic(20;0.107)	866					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2596G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833728	0.50951	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87729	-2.29;-2.29	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.94332	0.7563	10	0.87932	D	0	.	20.2311	0.98348	0.0:0.0:1.0:0.0	.	866	P15918	RAG1_HUMAN	M	866	ENSP00000434610:V866M;ENSP00000299440:V866M	ENSP00000299440:V866M	V	+	1	0	RAG1	36554026	1.000000	0.71417	0.313000	0.25210	0.340000	0.28889	7.635000	0.83286	2.784000	0.95788	0.579000	0.79373	GTG		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	116	8	116	---	---	---	---
ACAP1	9744	broad.mit.edu	37	17	7240074	7240074	+	Silent	SNP	C	C	T	rs191833549		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:7240074C>T	ENST00000158762.3	+	1	227	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	7	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCTGGATTTCGAGGAGTGTC	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16021	0.0		0.0	False		,,,				2504	0.0					ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(19-21)ttC>ttT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1		C		0,4406		0,0,2203	87.0	81.0	83.0		21	-11.1	0.6	17		83	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ACAP1	NM_014716.3		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		7/741	7240074	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7240074C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.21C>T	17.37:g.7240074C>T							p.F7F	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			1	227	+			7			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Silent	SNP	ENST00000158762.3	37	c.21C>T	CCDS11101.1																																																																																				0.612	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		4	107	4	107	---	---	---	---
TOP2A	7153	broad.mit.edu	37	17	38564345	38564345	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:38564345G>C	ENST00000423485.1	-	12	1532	c.1374C>G	c.(1372-1374)atC>atG	p.I458M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	458	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CCTCAGTCAGGATAAGCGTAC	0.393																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1372-1374)atC>atG		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						54.0	51.0	52.0					17																	38564345		1842	4084	5926	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564345G>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1374C>G	17.37:g.38564345G>C	ENSP00000411532:p.Ile458Met						p.I458M	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		12	1532	-		Breast(137;0.00328)	458					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1374C>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387014	0.61956	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.28069	1.63	5.36	3.39	0.38822	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67945	-0.5539	10	0.87932	D	0	.	8.1406	0.31080	0.3034:0.0:0.6966:0.0	.	458	P11388	TOP2A_HUMAN	M	458;538;481;494	ENSP00000411532:I458M	ENSP00000269577:I538M	I	-	3	3	TOP2A	35817871	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.144000	0.42197	0.658000	0.30925	0.591000	0.81541	ATC		0.393	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			4	85	4	85	---	---	---	---
