#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
ZFP42	132625	broad.mit.edu	37	4	188924090	188924090	+	Silent	SNP	C	C	T			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr4:188924090C>T	ENST00000326866.4	+	4	537	c.129C>T	c.(127-129)gtC>gtT	p.V43V	ZFP42_ENST00000509524.1_Silent_p.V43V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	43					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TAGAACCTGTCAGCGCGGTGT	0.562																																						uc003izh.1																			0		p.P42H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(127-129)gtC>gtT		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							107.0	93.0	98.0					4																	188924090		2203	4300	6503	SO:0001819	synonymous_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924090C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.129C>T	4.37:g.188924090C>T						ZFP42_uc003izi.1_Silent_p.V43V|ZFP42_uc021xvm.1_Silent_p.V43V	p.V43V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	537	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	43					D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	c.129C>T	CCDS3849.1																																																																																				0.562	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		25	40	0	0	0	1	0	25	40				
NRP2	8828	broad.mit.edu	37	2	206630290	206630290	+	Silent	SNP	C	C	T			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr2:206630290C>T	ENST00000357785.5	+	14	2431	c.2400C>T	c.(2398-2400)tgC>tgT	p.C800C	NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000540178.1_Silent_p.C800C|NRP2_ENST00000357118.4_Silent_p.C800C|NRP2_ENST00000360409.3_Silent_p.C800C|AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000272849.3_Silent_p.C800C|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000412873.2_Silent_p.C800C|NRP2_ENST00000540841.1_Silent_p.C800C|AC007362.3_ENST00000423425.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGGAGAACTGCATGGGTATGT	0.478																																						uc002vaw.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2398-2400)tgC>tgT		Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.							226.0	209.0	214.0					2																	206630290		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206630290C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2400C>T	2.37:g.206630290C>T						NRP2_uc002vau.3_Silent_p.C800C|NRP2_uc002vav.3_Silent_p.C800C|NRP2_uc002vax.3_Silent_p.C800C|NRP2_uc002vay.3_Silent_p.C800C	p.C800C	NM_201266	NP_957718	O60462	NRP2_HUMAN			13	3191	+			800			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.2400C>T	CCDS46496.1																																																																																				0.478	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			4	96	0	0	0	1	0	4	96				
KRT79	338785	broad.mit.edu	37	12	53225273	53225273	+	Silent	SNP	C	C	T	rs200800580		TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr12:53225273C>T	ENST00000330553.5	-	2	649	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	205	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTGTCCAGCGTGCTCCGCA	0.607																																						uc001sbb.3																			0		p.T205M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(613-615)acG>acA		Homo sapiens keratin 79 (KRT79), mRNA.							112.0	108.0	109.0					12																	53225273		2203	4300	6503	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53225273C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.615G>A	12.37:g.53225273C>T						KRT79_uc001sba.3_5'Flank	p.T205T	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	648	-			205			Coil 1B.|Rod.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.615G>A	CCDS8839.1																																																																																				0.607	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		22	83	0	0	0	1	0	22	83				
PTPRT	11122	broad.mit.edu	37	20	41306647	41306647	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr20:41306647G>A	ENST00000373187.1	-	7	1011	c.1012C>T	c.(1012-1014)Cac>Tac	p.H338Y	PTPRT_ENST00000373198.4_Missense_Mutation_p.H338Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H338Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H338Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	338	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCGACTATGTGGGTCTCTGCC	0.567																																						uc010ggj.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1012-1014)Cac>Tac		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 1, mRNA.							148.0	155.0	153.0					20																	41306647		2042	4187	6229	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306647G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1012C>T	20.37:g.41306647G>A	ENSP00000362283:p.His338Tyr					PTPRT_uc002xkg.3_Missense_Mutation_p.H338Y	p.H338Y	NM_133170	NP_573400	O14522	PTPRT_HUMAN			6	1196	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	338			Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1012C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162273	0.38217	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112633	0.64402	D	0.000016	T	0.61211	0.2329	M	0.76838	2.35	0.51233	D	0.999918	B;B	0.32467	0.321;0.372	B;B	0.36030	0.138;0.216	T	0.65569	-0.6136	10	0.87932	D	0	.	19.1814	0.93625	0.0:0.0:1.0:0.0	.	338;338	O14522-1;O14522	.;PTPRT_HUMAN	Y	338	ENSP00000362286:H338Y;ENSP00000362283:H338Y;ENSP00000362289:H338Y;ENSP00000348408:H338Y;ENSP00000362294:H338Y;ENSP00000362280:H338Y;ENSP00000362297:H338Y	ENSP00000348408:H338Y	H	-	1	0	PTPRT	40740061	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	6.532000	0.73825	2.705000	0.92388	0.655000	0.94253	CAC		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			14	115	0	0	0	1	0	14	115				
SKAP2	8935	broad.mit.edu	37	7	26766512	26766512	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr7:26766512G>A	ENST00000345317.2	-	7	896	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.R23C	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	195	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R195G(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TGATATATACGTTTATCAGGA	0.303																																						uc003syc.3																			1	Substitution - Missense(1)	p.R195G(2)|p.R195H(1)	lung(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(583-585)Cgt>Tgt		Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.							96.0	88.0	91.0					7																	26766512		2202	4299	6501	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26766512G>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.583C>T	7.37:g.26766512G>A	ENSP00000005587:p.Arg195Cys					SKAP2_uc011jzi.2_Missense_Mutation_p.R23C|SKAP2_uc011jzj.2_Missense_Mutation_p.R180C	p.R195C	NM_003930	NP_003921	O75563	SKAP2_HUMAN			6	876	-			195			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.583C>T	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139300	0.77775	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.18502	2.21;2.21	5.71	5.71	0.89125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.65319	-0.6197	10	0.87932	D	0	-16.3262	19.921	0.97085	0.0:0.0:1.0:0.0	.	180;195	B7Z5N4;O75563	.;SKAP2_HUMAN	C	195;23;180	ENSP00000005587:R195C;ENSP00000443593:R23C	ENSP00000005587:R195C	R	-	1	0	SKAP2	26733037	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.472000	0.97709	2.712000	0.92718	0.644000	0.83932	CGT		0.303	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			15	34	0	0	0	1	0	15	34				
CYP2A6	1548	broad.mit.edu	37	19	41351189	41351189	+	Intron	SNP	C	C	T	rs202136237		TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr19:41351189C>T	ENST00000301141.5	-	7	1182				CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6						coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGGTGGGGGCGGATAGCACC	0.557																																						uc010ehe.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(559-561)Gcc>Acc		Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						66.0	68.0	67.0					19																	41351189		2203	4300	6503	SO:0001627	intron_variant	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351189C>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1161+9G>A	19.37:g.41351189C>T						CYP2A6_uc002opl.4_Intron	p.A187T			P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		5	1029	-			0					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.559G>A	CCDS12568.1																																																																																				0.557	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		7	37	0	0	0	1	0	7	37				
ASMT	438	broad.mit.edu	37	X	1743168	1743168	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chrX:1743168A>G	ENST00000381229.4	+	3	287	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	ASMT_ENST00000381233.3_Missense_Mutation_p.Y84C|ASMT_ENST00000381241.3_Missense_Mutation_p.Y84C			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	84					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)			Melatonin(DB01065)	TCAGCTTTCTATCGAAACACA	0.537																																						uc004cqd.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(250-252)tAt>tGt		Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.							158.0	152.0	154.0					X																	1743168		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity	g.chrX:1743168A>G	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.251A>G	X.37:g.1743168A>G	ENSP00000370627:p.Tyr84Cys					ASMT_uc010ncy.3_Missense_Mutation_p.Y84C|ASMT_uc004cqe.3_Missense_Mutation_p.Y84C	p.Y84C	NM_004043	NP_004034	P46597	HIOM_HUMAN			3	467	+		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)	84					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.251A>G		.	.	.	.	.	.	.	.	.	.	a	13.20	2.165317	0.38217	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.72615	-0.67;-0.67;-0.67	1.79	1.79	0.24919	.	0.246868	0.34411	U	0.003995	T	0.78978	0.4369	M	0.89785	3.06	0.09310	N	1	P;P	0.49559	0.859;0.925	P;P	0.52627	0.56;0.704	T	0.70802	-0.4773	10	0.87932	D	0	.	6.8964	0.24259	1.0:0.0:0.0:0.0	.	84;84	P46597-2;P46597-3	.;.	C	84	ENSP00000370639:Y84C;ENSP00000370627:Y84C;ENSP00000370631:Y84C	ENSP00000370627:Y84C	Y	+	2	0	ASMT	1703168	0.932000	0.31603	0.005000	0.12908	0.023000	0.10783	3.243000	0.51392	0.546000	0.28920	0.345000	0.21793	TAT		0.537	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		35	96	0	0	0	1	0	35	96				
ZNF319	57567	broad.mit.edu	37	16	58031260	58031260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr16:58031260G>A	ENST00000299237.2	-	2	1532	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CACGGGTGCTGCAGCAGCTCC	0.662																																						uc002emx.1																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(910-912)Cag>Tag		Homo sapiens zinc finger protein 319 (ZNF319), mRNA.							36.0	37.0	37.0					16																	58031260		2198	4300	6498	SO:0001587	stop_gained	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031260G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.910C>T	16.37:g.58031260G>A	ENSP00000299237:p.Gln304*					ZNF319_uc021tjd.1_Nonsense_Mutation_p.Q304*	p.Q304*	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			1	1533	-			304					Q52LH8	Nonsense_Mutation	SNP	ENST00000299237.2	37	c.910C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	42	9.297352	0.99128	.	.	ENSG00000166188	ENST00000299237	.	.	.	5.13	5.13	0.70059	.	0.130255	0.52532	U	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-26.217	17.579	0.87960	0.0:0.0:1.0:0.0	.	.	.	.	X	304	.	ENSP00000299237:Q304X	Q	-	1	0	ZNF319	56588761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.855000	0.86950	2.399000	0.81585	0.655000	0.94253	CAG		0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			3	29	0	0	0	1	0	3	29				
WT1	7490	broad.mit.edu	37	11	32414222	32414222	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr11:32414222C>A	ENST00000379079.2	-	8	966	c.693G>T	c.(691-693)agG>agT	p.R231S	WT1_ENST00000448076.3_Missense_Mutation_p.R443S|WT1_ENST00000332351.3_Missense_Mutation_p.R443S|WT1_ENST00000530998.1_Missense_Mutation_p.R214S	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	375					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CTGTATGTCTCCTTTGGTGTC	0.438			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.2			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	"""D, Mis, N, F, S"""	Wilms tumour 1 gene			O	EWSR1	Wilms	"""Wilms, desmoplastic small round cell tumor"""	EWSR1/WT1(234)	0		p.M442fs*9(1)		NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(1327-1329)agG>agT		Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.							187.0	155.0	166.0					11																	32414222		2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32414222C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.693G>T	11.37:g.32414222C>A	ENSP00000368370:p.Arg231Ser					WT1_uc001mtl.2_Missense_Mutation_p.R231S|WT1_uc001mtm.2_Missense_Mutation_p.R214S|WT1_uc001mto.2_Missense_Mutation_p.R443S|WT1_uc001mtq.2_Missense_Mutation_p.R426S|WT1_uc009yjs.2_Non-coding_Transcript	p.R443S	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		7	1519	-	Breast(20;0.247)		375					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1329G>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931831	0.73442	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.73	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.42517	0.1206	L	0.52364	1.645	0.58432	D	0.999998	D;D;D;P;P	0.61080	0.987;0.989;0.988;0.942;0.953	D;D;D;P;D	0.70935	0.939;0.971;0.953;0.891;0.917	T	0.16988	-1.0384	10	0.87932	D	0	.	11.7909	0.52070	0.0:0.8698:0.0:0.1302	.	431;375;448;214;231	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	S	231;443;214;426;443	ENSP00000368370:R231S;ENSP00000331327:R443S;ENSP00000435307:R214S;ENSP00000415516:R426S;ENSP00000413452:R443S	ENSP00000331327:R443S	R	-	3	2	WT1	32370798	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.423000	0.21313	2.868000	0.98415	0.555000	0.69702	AGG		0.438	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		4	32	0	0	0	1	0	4	32				
