#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
COL27A1	85301	broad.mit.edu	37	9	116931244	116931244	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr9:116931244A>C	ENST00000356083.3	+	3	1800	c.1409A>C	c.(1408-1410)aAg>aCg	p.K470T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	470	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CATGCCAGTAAGCCGGCCTCT	0.592																																						uc011lxl.2																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1408-1410)aAg>aCg		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.							147.0	168.0	161.0					9																	116931244		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931244A>C	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1409A>C	9.37:g.116931244A>C	ENSP00000348385:p.Lys470Thr		Somatic				COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.K320T	p.K470T	NM_032888	NP_116277	WXS	Illumina GAIIx	Phase_I	Q8IZC6	CORA1_HUMAN			2	1409	+			470			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1409A>C	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	9.488	1.099940	0.20552	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91996	-2.65;-2.95	4.7	3.54	0.40534	.	.	.	.	.	D	0.86431	0.5931	N	0.19112	0.55	0.23043	N	0.998389	B;P	0.48162	0.18;0.906	B;P	0.46585	0.017;0.521	T	0.76435	-0.2960	9	0.37606	T	0.19	.	7.6003	0.28073	0.8105:0.0:0.0:0.1895	.	470;417	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	T	470;470;417;417	ENSP00000348385:K470T;ENSP00000391328:K417T	ENSP00000348385:K470T	K	+	2	0	COL27A1	115971065	0.005000	0.15991	0.192000	0.23308	0.065000	0.16274	0.217000	0.17603	0.631000	0.30412	0.379000	0.24179	AAG		0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		102	150	0	0	0	1	0	102	150				
WDFY2	115825	broad.mit.edu	37	13	52301855	52301855	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr13:52301855C>T	ENST00000298125.5	+	6	707	c.527C>T	c.(526-528)tCa>tTa	p.S176L		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	176							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GGTGACCACTCAGGCCAAGTA	0.403																																						uc001vfp.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(526-528)tCa>tTa		Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.							143.0	128.0	133.0					13																	52301855		2203	4300	6503	SO:0001583	missense	115825						metal ion binding	g.chr13:52301855C>T	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.527C>T	13.37:g.52301855C>T	ENSP00000298125:p.Ser176Leu		Somatic				WDFY2_uc010ads.1_Missense_Mutation_p.S176L|WDFY2_uc010adt.1_Non-coding_Transcript	p.S176L	NM_052950	NP_443182	WXS	Illumina GAIIx	Phase_I	Q96P53	WDFY2_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	5	867	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	176					B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	c.527C>T	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386805	0.95967	.	.	ENSG00000139668	ENST00000298125	T	0.67171	-0.25	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.109197	0.64402	D	0.000004	T	0.82148	0.4974	M	0.74647	2.275	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.69824	0.966;0.95	D	0.83595	0.0125	10	0.87932	D	0	-10.0638	18.7245	0.91710	0.0:1.0:0.0:0.0	.	73;176	Q96LK4;Q96P53	.;WDFY2_HUMAN	L	176	ENSP00000298125:S176L	ENSP00000298125:S176L	S	+	2	0	WDFY2	51199856	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.440000	0.80464	2.652000	0.90054	0.650000	0.86243	TCA		0.403	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950		10	74	0	0	0	1	0	10	74				
DZIP3	9666	broad.mit.edu	37	3	108391411	108391411	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr3:108391411C>A	ENST00000361582.3	+	23	2727	c.2497C>A	c.(2497-2499)Cag>Aag	p.Q833K	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q833K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	833					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTCAGATCTCAGTGGGAAAT	0.363																																						uc003dxd.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2497-2499)Cag>Aag		Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.							95.0	92.0	93.0					3																	108391411		2203	4299	6502	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108391411C>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2497C>A	3.37:g.108391411C>A	ENSP00000355028:p.Gln833Lys		Somatic				DZIP3_uc003dxf.1_Missense_Mutation_p.Q833K|DZIP3_uc011bhm.2_Missense_Mutation_p.Q284K	p.Q833K	NM_014648	NP_055463	WXS	Illumina GAIIx	Phase_I	Q86Y13	DZIP3_HUMAN			22	2919	+			833					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2497C>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342799	0.41498	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83914	-1.78;-1.78	4.48	1.64	0.23874	.	0.508491	0.17307	N	0.179037	T	0.75206	0.3818	L	0.50333	1.59	0.23689	N	0.997101	P;P	0.48089	0.787;0.905	B;P	0.46026	0.219;0.501	T	0.62964	-0.6742	10	0.12766	T	0.61	-0.4816	4.5295	0.11997	0.0:0.6112:0.1841:0.2047	.	451;833	D3DN61;Q86Y13	.;DZIP3_HUMAN	K	833	ENSP00000355028:Q833K;ENSP00000419981:Q833K	ENSP00000355028:Q833K	Q	+	1	0	DZIP3	109874101	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.910000	0.39927	0.224000	0.20940	0.655000	0.94253	CAG		0.363	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		4	32	0	0	0	1	0	4	32				
SLC7A6	9057	broad.mit.edu	37	16	68309107	68309107	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr16:68309107G>C	ENST00000566454.1	+	4	747	c.478G>C	c.(478-480)Gat>Cat	p.D160H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.D160H	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CCCCAGCTGTGATCCCCCATA	0.582																																						uc002evt.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(478-480)Gat>Cat		Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 (SLC7A6), transcript variant 1, mRNA.							106.0	94.0	98.0					16																	68309107		2198	4300	6498	SO:0001583	missense	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68309107G>C	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.478G>C	16.37:g.68309107G>C	ENSP00000455064:p.Asp160His		Somatic				SLC7A6_uc010cfb.2_Non-coding_Transcript|SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evu.2_Missense_Mutation_p.D160H|SLC7A6_uc010cfc.1_Non-coding_Transcript	p.D160H	NM_001076785	NP_003974	WXS	Illumina GAIIx	Phase_I	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	3	791	+		Ovarian(137;0.0563)	160						Missense_Mutation	SNP	ENST00000566454.1	37	c.478G>C	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138435	0.37728	.	.	ENSG00000103064	ENST00000219343;ENST00000379152	D;D	0.90004	-2.6;-2.6	5.76	1.64	0.23874	Amino acid permease domain (1);	0.519429	0.24083	N	0.041719	D	0.82351	0.5018	L	0.50919	1.6	0.41256	D	0.98674	B	0.06786	0.001	B	0.15484	0.013	T	0.71873	-0.4461	10	0.46703	T	0.11	.	4.4967	0.11840	0.3078:0.0:0.5469:0.1453	.	160	Q92536	YLAT2_HUMAN	H	160	ENSP00000219343:D160H;ENSP00000368448:D160H	ENSP00000219343:D160H	D	+	1	0	SLC7A6	66866608	0.830000	0.29337	0.950000	0.38849	0.915000	0.54546	0.949000	0.29109	0.087000	0.17167	0.650000	0.86243	GAT		0.582	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		8	177	0	0	0	1	0	8	177				
PPP2R3B	28227	broad.mit.edu	37	X	347131	347131	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chrX:347131C>T	ENST00000390665.3	-	1	314	c.296G>A	c.(295-297)gGc>gAc	p.G99D		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	99					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTACGGGTGCCTCGAACGTG	0.701																																						uc004cpg.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(295-297)gGc>gAc		Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.																																				SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:347131C>T	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.296G>A	X.37:g.347131C>T	ENSP00000375080:p.Gly99Asp		Somatic				PPP2R3B_uc011mha.2_5'UTR	p.G99D	NM_013239	NP_037371	WXS	Illumina GAIIx	Phase_I	Q9Y5P8	P2R3B_HUMAN			0	560	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	99					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.296G>A	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	C	1.611	-0.524119	0.04141	.	.	ENSG00000167393	ENST00000390665	T	0.17691	2.26	1.07	1.07	0.20283	.	1825.230000	0.00166	U	0.000000	T	0.13970	0.0338	L	0.40543	1.245	0.09310	N	1	B	0.33073	0.396	B	0.31614	0.133	T	0.21586	-1.0241	10	0.13470	T	0.59	.	5.5149	0.16900	0.0:1.0:0.0:0.0	.	99	Q9Y5P8	P2R3B_HUMAN	D	99	ENSP00000375080:G99D	ENSP00000375080:G99D	G	-	2	0	PPP2R3B	267131	0.166000	0.22962	0.012000	0.15200	0.005000	0.04900	0.447000	0.21710	0.563000	0.29222	0.401000	0.26515	GGC		0.701	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		6	65	0	0	0	1	0	6	65				
TMEM132B	114795	broad.mit.edu	37	12	126138656	126138656	+	Silent	SNP	G	G	A	rs191297957		TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr12:126138656G>A	ENST00000299308.3	+	9	2645	c.2637G>A	c.(2635-2637)ccG>ccA	p.P879P	TMEM132B_ENST00000535886.1_Silent_p.P391P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	879						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAAGTCACCGGACCCCAATA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21313	0.0		0.001	False		,,,				2504	0.0					uc001uhe.1																			0		p.P879L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2635-2637)ccG>ccA		Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.		G		1,3873		0,1,1936	66.0	64.0	65.0		2637	-5.6	0.0	12		65	1,8273		0,1,4136	no	coding-synonymous	TMEM132B	NM_052907.2		0,2,6072	AA,AG,GG		0.0121,0.0258,0.0165		879/1079	126138656	2,12146	1937	4137	6074	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126138656G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2637G>A	12.37:g.126138656G>A			Somatic				TMEM132B_uc001uhf.1_Silent_p.P391P	p.P879P	NM_052907	NP_443139	WXS	Illumina GAIIx	Phase_I	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	2645	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		879					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2637G>A	CCDS41859.1																																																																																				0.517	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		25	26	0	0	0	1	0	25	26				
ZNF835	90485	broad.mit.edu	37	19	57176120	57176120	+	Silent	SNP	C	C	T			TCGA-EM-A3FQ-06A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31ea2466-3e87-4ec2-a15c-0722473852e7	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr19:57176120C>T	ENST00000537055.2	-	2	678	c.447G>A	c.(445-447)caG>caA	p.Q149Q		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGCACGCTCTGGCTGAAGG	0.637																																						uc010ygn.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(445-447)caG>caA		Homo sapiens zinc finger protein 835 (ZNF835), mRNA.							52.0	57.0	55.0					19																	57176120		2203	4300	6503	SO:0001819	synonymous_variant	90485							g.chr19:57176120C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.447G>A	19.37:g.57176120C>T			Somatic					p.Q149Q	NM_001005850	NP_001005850	WXS	Illumina GAIIx	Phase_I					1	674	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.447G>A	CCDS56105.1																																																																																				0.637	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		7	65	0	0	0	1	0	7	65				
