#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_BAM_File	i_CAF	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
PCDHGA2	56113	genome.wustl.edu	37	5	140720421	140720421	+	Missense_Mutation	SNP	C	C	T			TCGA-XU-AAXX-01A-11D-A428-09	TCGA-XU-AAXX-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1184247f-b47c-4606-86c0-3ba4842ce881	826eefc1-49d9-43d3-bad6-3557be4cb2f1	g.chr5:140720421C>T	ENST00000394576.2	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.682																																							0											0													35.0	43.0	40.0					5																	140720421		2197	4289	6486	SO:0001583	missense	0			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1883C>T	5.37:g.140720421C>T	ENSP00000378077:p.Thr628Met		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T628M	ENST00000394576.2	37	c.1883	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	16.30	3.084012	0.55861	.	.	ENSG00000081853	ENST00000394576	T	0.56941	0.43	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.42548	U	0.000694	T	0.80401	0.4616	H	0.94734	3.575	0.40231	D	0.977845	D;D	0.89917	0.996;1.0	P;D	0.68353	0.883;0.957	D	0.86474	0.1787	10	0.72032	D	0.01	.	18.6542	0.91445	0.0:1.0:0.0:0.0	.	628;628	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	628	ENSP00000378077:T628M	ENSP00000378077:T628M	T	+	2	0	PCDHGA2	140700605	0.991000	0.36638	0.954000	0.39281	0.111000	0.19643	2.931000	0.48932	2.589000	0.87451	0.485000	0.47835	ACG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	protein_coding	OTTHUMT00000374738.1	49	8	0	0.00	0	0	C	NM_018915	0	0		140720421	1	no_errors	ENST00000394576	ensembl	human	known	74_37	missense	41	2	10.64	0.00	5	0	SNP	1	T
DNM1P47	100216544	genome.wustl.edu	37	15	102303564	102303564	+	RNA	SNP	G	G	T	rs373098846		TCGA-XU-AAXX-01A-11D-A428-09	TCGA-XU-AAXX-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1184247f-b47c-4606-86c0-3ba4842ce881	826eefc1-49d9-43d3-bad6-3557be4cb2f1	g.chr15:102303564G>T	ENST00000561463.1	+	0	11610									DNM1 pseudogene 47																		GGTGTGACGAGACTCGCGTGG	0.577																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303564G>T				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15																																																																																			0	0		0.577	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	18	0	0	0.00	0	0	G	NG_009149	rs373098846	G->T		102303564	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	5	2	37.5	0.00	3	0	SNP	1	T
ZNF208	7757	genome.wustl.edu	37	19	22154197	22154197	+	Missense_Mutation	SNP	T	T	A	rs560585093		TCGA-XU-AAXX-01A-11D-A428-09	TCGA-XU-AAXX-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1184247f-b47c-4606-86c0-3ba4842ce881	826eefc1-49d9-43d3-bad6-3557be4cb2f1	g.chr19:22154197T>A	ENST00000397126.4	-	4	3787	c.3639A>T	c.(3637-3639)agA>agT	p.R1213S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTTGTGATATCTAAGGGTTG	0.378													t|||	1	0.000199681	0.0	0.0	5008	,	,		21180	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													38.0	41.0	40.0					19																	22154197		2105	4245	6350	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3639A>T	19.37:g.22154197T>A	ENSP00000380315:p.Arg1213Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R1213S	ENST00000397126.4	37	c.3639	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	1.113	-0.657555	0.03480	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.39592	1.07	3.22	-6.43	0.01926	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26292	-1.0107	8	0.07175	T	0.84	.	1.5662	0.02605	0.2343:0.1042:0.1711:0.4905	.	1085	O43345	ZN208_HUMAN	S	1213;1085	ENSP00000380315:R1213S	ENSP00000380315:R1213S	R	-	3	2	ZNF208	21946037	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.047000	0.00306	-1.840000	0.01184	-1.063000	0.02288	AGA	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	38	3	2.56	0.00	1	0	T	NM_007153	rs560585093	T->A		22154197	-1	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	44	6	8.33	0.00	4	0	SNP	0	A
HELZ2	85441	genome.wustl.edu	37	20	62202620	62202620	+	Intron	SNP	A	A	C			TCGA-XU-AAXX-01A-11D-A428-09	TCGA-XU-AAXX-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1184247f-b47c-4606-86c0-3ba4842ce881	826eefc1-49d9-43d3-bad6-3557be4cb2f1	g.chr20:62202620A>C	ENST00000467148.1	-	2	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCCCGCTCCAAGCTCCTGGG	0.701																																							0											0																																										SO:0001627	intron_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.279-399T>G	20.37:g.62202620A>C			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	0	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			0	0		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	50	0	1.96	0.00	1	0	A	NM_001037335	0	0		62202620	-1	no_errors	ENST00000479540	ensembl	human	known	74_37	rna	32	0	27.27	0.00	12	0	SNP	0.503	C
FOXD1	2297	genome.wustl.edu	37	5	72744018	72744020	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-XU-AAXX-01A-11D-A428-09	TCGA-XU-AAXX-10A-01D-A42B-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1184247f-b47c-4606-86c0-3ba4842ce881	826eefc1-49d9-43d3-bad6-3557be4cb2f1	g.chr5:72744018_72744020delCGC	ENST00000499003.3	-	1	332_334	c.168_170delGCG	c.(166-171)cggcgc>cgc	p.56_57RR>R	RP11-79P5.2_ENST00000514661.1_lincRNA|FOXD1_ENST00000513595.1_5'Flank	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	56	Poly-Arg.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		GGCGTACGAGcgccgccgccgcc	0.759																																							0											0										21,1817		5,11,903						1.5	1.0			13	47,4167		8,31,2068	no	coding	FOXD1	NM_004472.2		13,42,2971	A1A1,A1R,RR		1.1153,1.1425,1.1236				68,5984				SO:0001651	inframe_deletion	0			U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"""Forkhead boxes"""	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.168_170delGCG	5.37:g.72744027_72744029delCGC	ENSP00000462795:p.Arg57del		Q12949	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R57in_frame_del	ENST00000499003.3	37	c.170_168		5																																																																																			0	NULL		0.759	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	FOXD1	protein_coding	OTTHUMT00000369154.2	25	5	0	0.00	0	0	CGC	NM_004472	0	0		72744020	-1	no_errors	ENST00000499003	ensembl	human	known	74_37	in_frame_del	14	10	17.65	0.00	3	0	DEL	1.000:1.000:1.000	0
POMZP3	22932	genome.wustl.edu	37	7	76256104	76256105	+	5'UTR	INS	-	-	GGAGGGCGGTGT	rs199981312|rs370134150		TCGA-XU-AAXX-01A-11D-A428-09	TCGA-XU-AAXX-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1184247f-b47c-4606-86c0-3ba4842ce881	826eefc1-49d9-43d3-bad6-3557be4cb2f1	g.chr7:76256104_76256105insGGAGGGCGGTGT	ENST00000310842.4	-	0	453_454				POMZP3_ENST00000275569.4_5'UTR|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion											kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				TGGGTCGGCGGGGAGGGCGGTG	0.743																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.-232->ACACCGCCCTCC	7.37:g.76256104_76256105insGGAGGGCGGTGT			F6STJ3|Q12903|Q9BWB4	RNA	INS	0	NULL	ENST00000310842.4	37	NULL	CCDS43606.1	7																																																																																			0	0		0.743	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133091	protein_coding	OTTHUMT00000341775.1	26	13	0	0.00	0	0	0	NM_012230	rs370134150	G->GGGAGGGCGGTGT		76256105	1	no_errors	ENST00000418663	ensembl	human	known	74_37	rna	19	6	24	0.00	6	0	INS	0.012:0.012	GGAGGGCGGTGT
