#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RAD51AP2	729475	broad.mit.edu	37	2	17698454	17698454	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr2:17698454C>T	ENST00000399080.2	-	1	1252	c.1229G>A	c.(1228-1230)tGt>tAt	p.C410Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	410										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATAATCCAACAATTTCCTCT	0.313																																						uc002rcl.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1228-1230)tGt>tAt		Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.							50.0	48.0	49.0					2																	17698454		1800	4064	5864	SO:0001583	missense	729475							g.chr2:17698454C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1229G>A	2.37:g.17698454C>T	ENSP00000382030:p.Cys410Tyr					RAD51AP2_uc010exn.1_Missense_Mutation_p.C401Y	p.C410Y	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			0	1253	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410						Missense_Mutation	SNP	ENST00000399080.2	37	c.1229G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.819769	0.00595	.	.	ENSG00000214842	ENST00000399080	T	0.21932	1.98	4.61	-1.91	0.07641	.	.	.	.	.	T	0.06050	0.0157	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38394	-0.9663	9	0.02654	T	1	13.1493	3.6466	0.08187	0.2717:0.4071:0.0:0.3212	.	410	Q09MP3	R51A2_HUMAN	Y	410	ENSP00000382030:C410Y	ENSP00000382030:C410Y	C	-	2	0	RAD51AP2	17561935	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.520000	0.06252	-0.278000	0.09180	-0.251000	0.11542	TGT		0.313	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		13	47	0	0	0	1	0	13	47				
ZNF280B	140883	broad.mit.edu	37	22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr22:22842418A>G	ENST00000406426.1	-	4	2048	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000360412.2_Missense_Mutation_p.F436L			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428																																						uc002zwc.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1306-1308)Ttt>Ctt		Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.							110.0	105.0	107.0					22																	22842418		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842418A>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1306T>C	22.37:g.22842418A>G	ENSP00000385998:p.Phe436Leu					abParts_uc021wml.1_Splice_Site|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.F436L	p.F436L	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	2082	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	436						Missense_Mutation	SNP	ENST00000406426.1	37	c.1306T>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754591	0.69648	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.58940	0.3;0.3	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.48333	0.1494	L	0.35487	1.065	0.42761	D	0.993803	P	0.35612	0.512	B	0.36989	0.238	T	0.53330	-0.8454	9	0.52906	T	0.07	-16.5218	12.726	0.57170	1.0:0.0:0.0:0.0	.	436	Q86YH2	Z280B_HUMAN	L	436	ENSP00000385998:F436L;ENSP00000353586:F436L	ENSP00000353586:F436L	F	-	1	0	ZNF280B	21172418	1.000000	0.71417	0.920000	0.36463	0.980000	0.70556	8.122000	0.89584	2.172000	0.68678	0.533000	0.62120	TTT		0.428	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		3	114	0	0	0	1	0	3	114				
HEPACAM2	253012	broad.mit.edu	37	7	92821645	92821645	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr7:92821645C>A	ENST00000394468.2	-	9	1384	c.1307G>T	c.(1306-1308)tGt>tTt	p.C436F	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.C424F|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.V416L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.C459F|HEPACAM2_ENST00000492616.1_5'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	436					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CCCCGATACACAATCAGAGGC	0.398																																						uc011khy.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(1375-1377)tGt>tTt		Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.							128.0	116.0	120.0					7																	92821645		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92821645C>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1307G>T	7.37:g.92821645C>A	ENSP00000377980:p.Cys436Phe					HEPACAM2_uc003uml.3_Missense_Mutation_p.C424F|HEPACAM2_uc010lff.3_Missense_Mutation_p.V416L|HEPACAM2_uc003umm.3_Missense_Mutation_p.C436F	p.C459F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN			9	1399	-			436					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.1376G>T	CCDS43616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.865566|1.865566	0.32977|0.32977	.|.	.|.	ENSG00000188175|ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000453812|ENST00000440868	T;T;T|T	0.47869|0.57595	0.83;0.83;0.83|0.39	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	0.627597|.	0.16881|.	N|.	0.195718|.	T|T	0.36963|0.36963	0.0986|0.0986	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|B	0.16802|0.02656	0.003;0.011;0.019|0.0	B;B;B|B	0.23018|0.04013	0.012;0.012;0.043|0.001	T|T	0.26155|0.26155	-1.0111|-1.0111	10|9	0.10111|0.66056	T|D	0.7|0.02	-0.1274|-0.1274	11.8135|11.8135	0.52195|0.52195	0.2465:0.7535:0.0:0.0|0.2465:0.7535:0.0:0.0	.|.	459;436;424|416	E9PDV5;A8MVW5;A8MVW5-2|C9JN07	.;HECA2_HUMAN;.|.	F|L	436;424;459|416	ENSP00000377980:C436F;ENSP00000340532:C424F;ENSP00000390204:C459F|ENSP00000389592:V416L	ENSP00000340532:C424F|ENSP00000389592:V416L	C|V	-|-	2|1	0|0	HEPACAM2|HEPACAM2	92659581|92659581	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.004000|0.004000	0.04260|0.04260	0.450000|0.450000	0.21762|0.21762	2.397000|2.397000	0.81536|0.81536	0.563000|0.563000	0.77884|0.77884	TGT|GTG		0.398	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		22	73	0	0	0	1	0	22	73				
FAT3	120114	broad.mit.edu	37	11	92258019	92258019	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr11:92258019A>G	ENST00000298047.6	+	2	3529	c.3512A>G	c.(3511-3513)cAg>cGg	p.Q1171R	FAT3_ENST00000541502.1_Missense_Mutation_p.Q1171R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q1171R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1021R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1171	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCAGATCCAGGCTGAAGAT	0.403										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3511-3513)cAg>cGg		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							53.0	53.0	53.0					11																	92258019		1930	4138	6068	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92258019A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3512A>G	11.37:g.92258019A>G	ENSP00000298047:p.Gln1171Arg	TCGA Ovarian(4;0.039)					p.Q1171R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	3529	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1171			Cadherin 11.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3512A>G		.	.	.	.	.	.	.	.	.	.	A	23.2	4.392036	0.83011	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.66	5.66	0.87406	.	.	.	.	.	T	0.42245	0.1194	N	0.11106	0.095	0.38813	D	0.95546	D	0.54772	0.968	P	0.54270	0.747	T	0.42413	-0.9453	9	0.24483	T	0.36	.	15.9012	0.79377	1.0:0.0:0.0:0.0	.	1171	Q8TDW7-3	.	R	1171;1171;1171;1021	ENSP00000298047:Q1171R;ENSP00000387040:Q1171R;ENSP00000443786:Q1171R;ENSP00000432586:Q1021R	ENSP00000298047:Q1171R	Q	+	2	0	FAT3	91897667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.300000	0.78841	2.167000	0.68274	0.528000	0.53228	CAG		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	43	0	0	0	1	0	3	43				
CYP11A1	1583	broad.mit.edu	37	15	74630341	74630341	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr15:74630341G>A	ENST00000268053.6	-	9	1692	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	CYP11A1_ENST00000358632.4_Missense_Mutation_p.P355L|CYP11A1_ENST00000419019.2_Missense_Mutation_p.P355L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	513					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTGGTTAAAGGGCCAGAAGGT	0.552																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1537-1539)cCc>cTc		Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						140.0	117.0	125.0					15																	74630341		2198	4297	6495	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74630341G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1538C>T	15.37:g.74630341G>A	ENSP00000268053:p.Pro513Leu					CYP11A1_uc002axs.2_Missense_Mutation_p.P355L|CYP11A1_uc010bjm.1_Missense_Mutation_p.P355L|CYP11A1_uc010bjn.1_Non-coding_Transcript	p.P513L	NM_000781	NP_001093243	P05108	CP11A_HUMAN			8	1693	-			513					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.1538C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517508	0.85495	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.71817	-0.6;-0.6;-0.6	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82882	-0.0237	10	0.66056	D	0.02	-14.5472	18.2052	0.89852	0.0:0.0:1.0:0.0	.	483;513	B4DTE5;P05108	.;CP11A_HUMAN	L	513;355;355;278	ENSP00000268053:P513L;ENSP00000351455:P355L;ENSP00000405488:P355L	ENSP00000268053:P513L	P	-	2	0	CYP11A1	72417394	1.000000	0.71417	0.943000	0.38184	0.683000	0.39861	7.899000	0.87370	2.393000	0.81446	0.549000	0.68633	CCC		0.552	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			16	40	0	0	0	1	0	16	40				
