#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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADNP2	22850	genome.wustl.edu	37	18	77895774	77895774	+	Silent	SNP	C	C	T			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr18:77895774C>T	ENST00000262198.4	+	4	2933	c.2478C>T	c.(2476-2478)atC>atT	p.I826I		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	826					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTGATTTCATCACCATATTGC	0.483																																						dbGAP											0													76.0	76.0	76.0					18																	77895774		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2478C>T	18.37:g.77895774C>T			A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.I826	ENST00000262198.4	37	c.2478	CCDS32853.1	18																																																																																			ADNP2	-	NULL	ENSG00000101544		0.483	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	62	0.00	0	C	NM_014913		77895774	77895774	+1	no_errors	ENST00000262198	ensembl	human	known	69_37n	silent	55	14.06	9	SNP	0.273	T
ADNP2	22850	genome.wustl.edu	37	18	77895774	77895774	+	Silent	SNP	C	C	T			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr18:77895774C>T	ENST00000262198.4	+	4	2933	c.2478C>T	c.(2476-2478)atC>atT	p.I826I		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	826					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTGATTTCATCACCATATTGC	0.483																																						dbGAP											0													76.0	76.0	76.0					18																	77895774		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2478C>T	18.37:g.77895774C>T			A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.I826	ENST00000262198.4	37	c.2478	CCDS32853.1	18																																																																																			ADNP2	-	NULL	ENSG00000101544		0.483	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	58	0.00	0	C	NM_014913		77895774	77895774	+1	no_errors	ENST00000262198	ensembl	human	known	69_37n	silent	55	14.06	9	SNP	0.273	T
BRIP1	83990	genome.wustl.edu	37	17	59821812	59821812	+	Silent	SNP	G	G	A	rs587782726		TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr17:59821812G>A	ENST00000259008.2	-	15	2505	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	BRIP1_ENST00000577598.1_Silent_p.I746I	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	746					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTGTATTTGATTGCGTCAT	0.313			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													161.0	161.0	161.0					17																	59821812		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2238C>T	17.37:g.59821812G>A			Q3MJE2|Q8NCI5	Missense_Mutation	SNP	smart_ATP-dep_Helicase_C	p.S74L	ENST00000259008.2	37	c.221	CCDS11631.1	17																																																																																			BRIP1	-	smart_ATP-dep_Helicase_C	ENSG00000136492		0.313	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	637	0.00	0	G	NM_032043		59821812	59821812	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000584322	ensembl	human	putative	69_37n	missense	459	31.75	214	SNP	1.000	A
BRIP1	83990	genome.wustl.edu	37	17	59821812	59821812	+	Silent	SNP	G	G	A	rs587782726		TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr17:59821812G>A	ENST00000259008.2	-	15	2505	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	BRIP1_ENST00000577598.1_Silent_p.I746I	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	746					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTGTATTTGATTGCGTCAT	0.313			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													161.0	161.0	161.0					17																	59821812		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2238C>T	17.37:g.59821812G>A			Q3MJE2|Q8NCI5	Missense_Mutation	SNP	smart_ATP-dep_Helicase_C	p.S74L	ENST00000259008.2	37	c.221	CCDS11631.1	17																																																																																			BRIP1	-	smart_ATP-dep_Helicase_C	ENSG00000136492		0.313	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	347	0.57	2	G	NM_032043		59821812	59821812	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000584322	ensembl	human	putative	69_37n	missense	459	31.75	214	SNP	1.000	A
BRIP1	83990	genome.wustl.edu	37	17	59821901	59821901	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr17:59821901G>C	ENST00000259008.2	-	15	2416	c.2149C>G	c.(2149-2151)Ctg>Gtg	p.L717V	BRIP1_ENST00000577598.1_Missense_Mutation_p.L717V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	717					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACCAACTCCAGATTATGCCAT	0.348			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													147.0	150.0	149.0					17																	59821901		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2149C>G	17.37:g.59821901G>C	ENSP00000259008:p.Leu717Val		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.L717V	ENST00000259008.2	37	c.2149	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786552	0.31593	.	.	ENSG00000136492	ENST00000259008	T	0.78364	-1.17	5.47	3.07	0.35406	Helicase, ATP-dependent, c2 type (1);	0.000000	0.64402	D	0.000005	D	0.84543	0.5495	M	0.70595	2.14	0.46725	D	0.999177	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83074	-0.0141	9	.	.	.	-5.4249	8.9103	0.35548	0.2152:0.0:0.7848:0.0	.	717;717	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	V	717	ENSP00000259008:L717V	.	L	-	1	2	BRIP1	57176683	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	2.275000	0.43399	0.958000	0.37956	0.460000	0.39030	CTG	BRIP1	-	smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000136492		0.348	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	499	0.00	0	G	NM_032043		59821901	59821901	-1	no_errors	ENST00000259008	ensembl	human	known	69_37n	missense	338	32.26	161	SNP	1.000	C
BRIP1	83990	genome.wustl.edu	37	17	59821901	59821901	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr17:59821901G>C	ENST00000259008.2	-	15	2416	c.2149C>G	c.(2149-2151)Ctg>Gtg	p.L717V	BRIP1_ENST00000577598.1_Missense_Mutation_p.L717V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	717					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACCAACTCCAGATTATGCCAT	0.348			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													147.0	150.0	149.0					17																	59821901		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2149C>G	17.37:g.59821901G>C	ENSP00000259008:p.Leu717Val		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.L717V	ENST00000259008.2	37	c.2149	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786552	0.31593	.	.	ENSG00000136492	ENST00000259008	T	0.78364	-1.17	5.47	3.07	0.35406	Helicase, ATP-dependent, c2 type (1);	0.000000	0.64402	D	0.000005	D	0.84543	0.5495	M	0.70595	2.14	0.46725	D	0.999177	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83074	-0.0141	9	.	.	.	-5.4249	8.9103	0.35548	0.2152:0.0:0.7848:0.0	.	717;717	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	V	717	ENSP00000259008:L717V	.	L	-	1	2	BRIP1	57176683	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	2.275000	0.43399	0.958000	0.37956	0.460000	0.39030	CTG	BRIP1	-	smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000136492		0.348	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	279	0.36	1	G	NM_032043		59821901	59821901	-1	no_errors	ENST00000259008	ensembl	human	known	69_37n	missense	338	32.26	161	SNP	1.000	C
FTL	2512	genome.wustl.edu	37	19	49469846	49469846	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr19:49469846G>A	ENST00000331825.6	+	4	589	c.382G>A	c.(382-384)Gac>Aac	p.D128N	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	128	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TCAGCTCTGTGACTTCCTGGA	0.512																																						dbGAP											0													159.0	173.0	168.0					19																	49469846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.382G>A	19.37:g.49469846G>A	ENSP00000366525:p.Asp128Asn		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	p.D128N	ENST00000331825.6	37	c.382	CCDS33070.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.300682	0.95601	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.70516	-0.49	4.46	4.46	0.54185	Ferritin/ribonucleotide reductase-like (1);Ferritin, conserved site (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.048859	0.85682	D	0.000000	D	0.82935	0.5145	M	0.84082	2.675	0.44221	D	0.997051	P	0.39443	0.674	P	0.55222	0.771	D	0.84982	0.0889	10	0.62326	D	0.03	.	15.0094	0.71539	0.0:0.0:1.0:0.0	.	128	P02792	FRIL_HUMAN	N	128	ENSP00000366525:D128N	ENSP00000366525:D128N	D	+	1	0	FTL	54161658	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.876000	0.92379	2.485000	0.83878	0.563000	0.77884	GAC	FTL	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	ENSG00000087086		0.512	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTL	HGNC	protein_coding	OTTHUMT00000466233.1	258	0.00	0	G	NM_000146		49469846	49469846	+1	no_errors	ENST00000331825	ensembl	human	known	69_37n	missense	198	10.41	23	SNP	1.000	A
FTL	2512	genome.wustl.edu	37	19	49469846	49469846	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr19:49469846G>A	ENST00000331825.6	+	4	589	c.382G>A	c.(382-384)Gac>Aac	p.D128N	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	128	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TCAGCTCTGTGACTTCCTGGA	0.512																																						dbGAP											0													159.0	173.0	168.0					19																	49469846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.382G>A	19.37:g.49469846G>A	ENSP00000366525:p.Asp128Asn		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	p.D128N	ENST00000331825.6	37	c.382	CCDS33070.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.300682	0.95601	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.70516	-0.49	4.46	4.46	0.54185	Ferritin/ribonucleotide reductase-like (1);Ferritin, conserved site (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.048859	0.85682	D	0.000000	D	0.82935	0.5145	M	0.84082	2.675	0.44221	D	0.997051	P	0.39443	0.674	P	0.55222	0.771	D	0.84982	0.0889	10	0.62326	D	0.03	.	15.0094	0.71539	0.0:0.0:1.0:0.0	.	128	P02792	FRIL_HUMAN	N	128	ENSP00000366525:D128N	ENSP00000366525:D128N	D	+	1	0	FTL	54161658	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.876000	0.92379	2.485000	0.83878	0.563000	0.77884	GAC	FTL	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	ENSG00000087086		0.512	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTL	HGNC	protein_coding	OTTHUMT00000466233.1	198	0.00	0	G	NM_000146		49469846	49469846	+1	no_errors	ENST00000331825	ensembl	human	known	69_37n	missense	198	10.41	23	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8115965	8115966	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr10:8115965_8115966insA	ENST00000346208.3	+	6	1766_1767	c.1311_1312insA	c.(1312-1314)atgfs	p.M438fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.M439fs			P23771	GATA3_HUMAN	GATA binding protein 3	438					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACCCCTCCAGCATGGTCACCGC	0.624			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1312dupA	10.37:g.8115966_8115966dupA	ENSP00000341619:p.Met438fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.M438fs	ENST00000346208.3	37	c.1314_1315	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.624	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	60	0.00	0	-	NM_001002295		8115965	8115966	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	103	12.71	15	INS	0.485:0.999	A
GATA3	2625	genome.wustl.edu	37	10	8115965	8115966	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr10:8115965_8115966insA	ENST00000346208.3	+	6	1766_1767	c.1311_1312insA	c.(1312-1314)atgfs	p.M438fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.M439fs			P23771	GATA3_HUMAN	GATA binding protein 3	438					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACCCCTCCAGCATGGTCACCGC	0.624			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1312dupA	10.37:g.8115966_8115966dupA	ENSP00000341619:p.Met438fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.M438fs	ENST00000346208.3	37	c.1314_1315	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.624	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	81	0.00	0	-	NM_001002295		8115965	8115966	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	103	12.71	15	INS	0.485:0.999	A
GRIN2D	2906	genome.wustl.edu	37	19	48945466	48945466	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr19:48945466G>A	ENST00000263269.3	+	12	2588	c.2500G>A	c.(2500-2502)Gag>Aag	p.E834K		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	834					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGACAAAATCGAGGTGATGAG	0.577																																						dbGAP											0													159.0	152.0	155.0					19																	48945466		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2500G>A	19.37:g.48945466G>A	ENSP00000263269:p.Glu834Lys			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E834K	ENST00000263269.3	37	c.2500	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.294955	0.95546	.	.	ENSG00000105464	ENST00000263269	T	0.56444	0.46	4.34	4.34	0.51931	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68685	-0.5343	10	0.87932	D	0	.	16.1979	0.82043	0.0:0.0:1.0:0.0	.	834	O15399	NMDE4_HUMAN	K	834	ENSP00000263269:E834K	ENSP00000263269:E834K	E	+	1	0	GRIN2D	53637278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.447000	0.97595	2.433000	0.82419	0.456000	0.33151	GAG	GRIN2D	-	pfam_Iontro_glu_rcpt	ENSG00000105464		0.577	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	89	0.00	0	G			48945466	48945466	+1	no_errors	ENST00000263269	ensembl	human	known	69_37n	missense	113	12.31	16	SNP	1.000	A
GRIN2D	2906	genome.wustl.edu	37	19	48945466	48945466	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr19:48945466G>A	ENST00000263269.3	+	12	2588	c.2500G>A	c.(2500-2502)Gag>Aag	p.E834K		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	834					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGACAAAATCGAGGTGATGAG	0.577																																						dbGAP											0													159.0	152.0	155.0					19																	48945466		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2500G>A	19.37:g.48945466G>A	ENSP00000263269:p.Glu834Lys			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E834K	ENST00000263269.3	37	c.2500	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.294955	0.95546	.	.	ENSG00000105464	ENST00000263269	T	0.56444	0.46	4.34	4.34	0.51931	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	L	0.39566	1.225	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68685	-0.5343	10	0.87932	D	0	.	16.1979	0.82043	0.0:0.0:1.0:0.0	.	834	O15399	NMDE4_HUMAN	K	834	ENSP00000263269:E834K	ENSP00000263269:E834K	E	+	1	0	GRIN2D	53637278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.447000	0.97595	2.433000	0.82419	0.456000	0.33151	GAG	GRIN2D	-	pfam_Iontro_glu_rcpt	ENSG00000105464		0.577	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	69	0.00	0	G			48945466	48945466	+1	no_errors	ENST00000263269	ensembl	human	known	69_37n	missense	113	12.31	16	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152186038	152186038	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr1:152186038delA	ENST00000368801.2	-	3	8142	c.8067delT	c.(8065-8067)ggtfs	p.G2689fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2689					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAAGAGTGACCCAAGCGAG	0.577																																						dbGAP											0													29.0	26.0	27.0					1																	152186038		1971	3911	5882	-	-	-	SO:0001589	frameshift_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8067delT	1.37:g.152186038delA	ENSP00000357791:p.Gly2689fs		Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.H2690fs	ENST00000368801.2	37	c.8067	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	10	0.00	0	A	XM_373868		152186038	152186038	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	frame_shift_del	6	42.86	6	DEL	0.001	-
HRNR	388697	genome.wustl.edu	37	1	152186041	152186042	+	Frame_Shift_Ins	INS	-	-	GG	rs12751022|rs555234935	byFrequency	TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr1:152186041_152186042insGG	ENST00000368801.2	-	3	8138_8139	c.8063_8064insCC	c.(8062-8064)ttgfs	p.L2688fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2688				L -> S (in Ref. 1; BAC57496). {ECO:0000305}.	establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L2688S(1)|p.L2688F(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCCAAGCGAGACTC	0.584																																						dbGAP											2	Substitution - Missense(2)	prostate(1)|lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8063_8064insCC	1.37:g.152186041_152186042insGG	ENSP00000357791:p.Leu2688fs		Q5DT20|Q5U1F4	Frame_Shift_Ins	INS	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L2688fs	ENST00000368801.2	37	c.8064_8063	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.584	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	8	0.00	0	-	XM_373868		152186041	152186042	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	frame_shift_ins	6	50.00	6	INS	0.000:0.000	GG
HRNR	388697	genome.wustl.edu	37	1	152186047	152186047	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr1:152186047delA	ENST00000368801.2	-	3	8133	c.8058delT	c.(8056-8058)tctfs	p.S2686fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2686					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCAAGCGAGACTCATATG	0.587																																						dbGAP											0													27.0	24.0	25.0					1																	152186047		1883	3790	5673	-	-	-	SO:0001589	frameshift_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8058delT	1.37:g.152186047delA	ENSP00000357791:p.Ser2686fs		Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R2687fs	ENST00000368801.2	37	c.8058	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	8	0.00	0	A	XM_373868		152186047	152186047	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	frame_shift_del	5	54.55	6	DEL	0.002	-
LPA	4018	genome.wustl.edu	37	6	161071469	161071469	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr6:161071469C>T	ENST00000316300.5	-	2	154	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	LPA_ENST00000447678.1_Missense_Mutation_p.R37Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	2545	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTACGTGCCTCGATAACTCTG	0.453																																						dbGAP											0													220.0	227.0	225.0					6																	161071469		2203	4300	6503	-	-	-	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.110G>A	6.37:g.161071469C>T	ENSP00000321334:p.Arg37Gln		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.R37Q	ENST00000316300.5	37	c.110	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	5.893	0.348846	0.11126	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.69306	-0.39;-0.39	2.72	1.83	0.25207	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.45657	0.1353	M	0.79343	2.45	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.50180	-0.8858	9	0.51188	T	0.08	.	6.6718	0.23072	0.0:0.8519:0.0:0.1481	.	2545	P08519	APOA_HUMAN	Q	37	ENSP00000321334:R37Q;ENSP00000395608:R37Q	ENSP00000321334:R37Q	R	-	2	0	LPA	160991459	0.997000	0.39634	0.130000	0.21974	0.024000	0.10985	2.229000	0.42990	0.400000	0.25396	-0.687000	0.03738	CGA	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.453	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	484	0.00	0	C	NM_005577		161071469	161071469	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	missense	349	11.87	47	SNP	0.280	T
LPA	4018	genome.wustl.edu	37	6	161071469	161071469	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr6:161071469C>T	ENST00000316300.5	-	2	154	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	LPA_ENST00000447678.1_Missense_Mutation_p.R37Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	2545	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTACGTGCCTCGATAACTCTG	0.453																																						dbGAP											0													220.0	227.0	225.0					6																	161071469		2203	4300	6503	-	-	-	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.110G>A	6.37:g.161071469C>T	ENSP00000321334:p.Arg37Gln		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.R37Q	ENST00000316300.5	37	c.110	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	5.893	0.348846	0.11126	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.69306	-0.39;-0.39	2.72	1.83	0.25207	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.45657	0.1353	M	0.79343	2.45	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.50180	-0.8858	9	0.51188	T	0.08	.	6.6718	0.23072	0.0:0.8519:0.0:0.1481	.	2545	P08519	APOA_HUMAN	Q	37	ENSP00000321334:R37Q;ENSP00000395608:R37Q	ENSP00000321334:R37Q	R	-	2	0	LPA	160991459	0.997000	0.39634	0.130000	0.21974	0.024000	0.10985	2.229000	0.42990	0.400000	0.25396	-0.687000	0.03738	CGA	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.453	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	224	0.44	1	C	NM_005577		161071469	161071469	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	missense	349	11.87	47	SNP	0.280	T
PANX1	24145	genome.wustl.edu	37	11	93886744	93886746	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr11:93886744_93886746delAGA	ENST00000227638.3	+	2	654_656	c.269_271delAGA	c.(268-273)cagaag>cag	p.K91del	PANX1_ENST00000436171.2_In_Frame_Del_p.K91del	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	91					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GCTGTTCAGCAGAAGAACTCACT	0.458																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.269_271delAGA	11.37:g.93886747_93886749delAGA	ENSP00000227638:p.Lys91del		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	In_Frame_Del	DEL	pfam_Innexin,pfscan_Innexin	p.K91in_frame_del	ENST00000227638.3	37	c.269_271	CCDS8296.1	11																																																																																			PANX1	-	pfam_Innexin,pfscan_Innexin	ENSG00000110218		0.458	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANX1	HGNC	protein_coding	OTTHUMT00000396121.1	122	0.00	0	AGA	NM_015368		93886744	93886746	+1	no_errors	ENST00000227638	ensembl	human	known	69_37n	in_frame_del	250	15.82	47	DEL	1.000:1.000:0.997	-
PANX1	24145	genome.wustl.edu	37	11	93886744	93886746	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr11:93886744_93886746delAGA	ENST00000227638.3	+	2	654_656	c.269_271delAGA	c.(268-273)cagaag>cag	p.K91del	PANX1_ENST00000436171.2_In_Frame_Del_p.K91del	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	91					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GCTGTTCAGCAGAAGAACTCACT	0.458																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.269_271delAGA	11.37:g.93886747_93886749delAGA	ENSP00000227638:p.Lys91del		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	In_Frame_Del	DEL	pfam_Innexin,pfscan_Innexin	p.K91in_frame_del	ENST00000227638.3	37	c.269_271	CCDS8296.1	11																																																																																			PANX1	-	pfam_Innexin,pfscan_Innexin	ENSG00000110218		0.458	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANX1	HGNC	protein_coding	OTTHUMT00000396121.1	302	0.00	0	AGA	NM_015368		93886744	93886746	+1	no_errors	ENST00000227638	ensembl	human	known	69_37n	in_frame_del	250	15.82	47	DEL	1.000:1.000:0.997	-
PCDHA3	56145	genome.wustl.edu	37	5	140181539	140181539	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr5:140181539G>A	ENST00000522353.2	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E253K	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	253	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATTACTCGAAAATGCACC	0.443																																						dbGAP											0													59.0	56.0	57.0					5																	140181539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.757G>A	5.37:g.140181539G>A	ENSP00000429808:p.Glu253Lys		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E253K	ENST00000522353.2	37	c.757	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	24.6	4.554800	0.86231	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.76316	-1.01;-1.01	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	U	0.000660	D	0.94624	0.8267	H	0.99968	5.105	0.47905	D	0.999547	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97779	1.0231	10	0.87932	D	0	.	18.3352	0.90285	0.0:0.0:1.0:0.0	.	253;253	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	K	253	ENSP00000429808:E253K;ENSP00000434086:E253K	ENSP00000429808:E253K	E	+	1	0	PCDHA3	140161723	1.000000	0.71417	0.933000	0.37362	0.814000	0.46013	9.866000	0.99616	2.414000	0.81942	0.467000	0.42956	GAA	PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000255408		0.443	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	75	0.00	0	G	NM_018906		140181539	140181539	+1	no_errors	ENST00000522353	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	1.000	A
PCDHA3	56145	genome.wustl.edu	37	5	140181539	140181539	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr5:140181539G>A	ENST00000522353.2	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E253K	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	253	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATTACTCGAAAATGCACC	0.443																																						dbGAP											0													59.0	56.0	57.0					5																	140181539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.757G>A	5.37:g.140181539G>A	ENSP00000429808:p.Glu253Lys		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E253K	ENST00000522353.2	37	c.757	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	24.6	4.554800	0.86231	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.76316	-1.01;-1.01	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	U	0.000660	D	0.94624	0.8267	H	0.99968	5.105	0.47905	D	0.999547	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97779	1.0231	10	0.87932	D	0	.	18.3352	0.90285	0.0:0.0:1.0:0.0	.	253;253	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	K	253	ENSP00000429808:E253K;ENSP00000434086:E253K	ENSP00000429808:E253K	E	+	1	0	PCDHA3	140161723	1.000000	0.71417	0.933000	0.37362	0.814000	0.46013	9.866000	0.99616	2.414000	0.81942	0.467000	0.42956	GAA	PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000255408		0.443	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	76	0.00	0	G	NM_018906		140181539	140181539	+1	no_errors	ENST00000522353	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	1.000	A
PCSK4	54760	genome.wustl.edu	37	19	1482992	1482992	+	Silent	SNP	G	G	A	rs200956101		TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr19:1482992G>A	ENST00000300954.5	-	13	1660	c.1599C>T	c.(1597-1599)taC>taT	p.Y533Y	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGTTGTTGTAGCCTTCAG	0.582																																						dbGAP											0													49.0	40.0	43.0					19																	1482992		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1599C>T	19.37:g.1482992G>A				Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.Y533	ENST00000300954.5	37	c.1599	CCDS12069.2	19																																																																																			PCSK4	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like	ENSG00000115257		0.582	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449703.1	47	0.00	0	G	NM_017573		1482992	1482992	-1	no_errors	ENST00000300954	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.999	A
PCSK4	54760	genome.wustl.edu	37	19	1482992	1482992	+	Silent	SNP	G	G	A	rs200956101		TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr19:1482992G>A	ENST00000300954.5	-	13	1660	c.1599C>T	c.(1597-1599)taC>taT	p.Y533Y	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGTTGTTGTAGCCTTCAG	0.582																																						dbGAP											0													49.0	40.0	43.0					19																	1482992		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1599C>T	19.37:g.1482992G>A				Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.Y533	ENST00000300954.5	37	c.1599	CCDS12069.2	19																																																																																			PCSK4	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like	ENSG00000115257		0.582	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449703.1	30	0.00	0	G	NM_017573		1482992	1482992	-1	no_errors	ENST00000300954	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.999	A
PDGFRB	5159	genome.wustl.edu	37	5	149510110	149510110	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr5:149510110G>T	ENST00000261799.4	-	9	1828	c.1359C>A	c.(1357-1359)gaC>gaA	p.D453E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	453	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTTTTGAGGTCTCTGCAGG	0.587			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													116.0	128.0	124.0					5																	149510110		2203	4300	6503	-	-	-	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1359C>A	5.37:g.149510110G>T	ENSP00000261799:p.Asp453Glu	1725	B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_VEGFR_rcpt_N,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D453E	ENST00000261799.4	37	c.1359	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325477	0.60743	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75154	-0.91	4.86	0.469	0.16741	.	0.098344	0.44688	D	0.000426	T	0.70193	0.3196	L	0.46157	1.445	0.27738	N	0.944592	P;P	0.47409	0.895;0.86	P;B	0.48304	0.573;0.4	T	0.66019	-0.6027	10	0.54805	T	0.06	.	10.8368	0.46692	0.3776:0.0:0.6224:0.0	.	453;453	A8KAM8;P09619	.;PGFRB_HUMAN	E	453;123	ENSP00000261799:D453E	ENSP00000261799:D453E	D	-	3	2	PDGFRB	149490303	1.000000	0.71417	0.999000	0.59377	0.803000	0.45373	1.174000	0.31932	0.142000	0.18901	-0.380000	0.06706	GAC	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000113721		0.587	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	47	0.00	0	G	NM_002609		149510110	149510110	-1	no_errors	ENST00000261799	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.996	T
PDGFRB	5159	genome.wustl.edu	37	5	149510110	149510110	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr5:149510110G>T	ENST00000261799.4	-	9	1828	c.1359C>A	c.(1357-1359)gaC>gaA	p.D453E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	453	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTTTTGAGGTCTCTGCAGG	0.587			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													116.0	128.0	124.0					5																	149510110		2203	4300	6503	-	-	-	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1359C>A	5.37:g.149510110G>T	ENSP00000261799:p.Asp453Glu	1725	B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_VEGFR_rcpt_N,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D453E	ENST00000261799.4	37	c.1359	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325477	0.60743	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75154	-0.91	4.86	0.469	0.16741	.	0.098344	0.44688	D	0.000426	T	0.70193	0.3196	L	0.46157	1.445	0.27738	N	0.944592	P;P	0.47409	0.895;0.86	P;B	0.48304	0.573;0.4	T	0.66019	-0.6027	10	0.54805	T	0.06	.	10.8368	0.46692	0.3776:0.0:0.6224:0.0	.	453;453	A8KAM8;P09619	.;PGFRB_HUMAN	E	453;123	ENSP00000261799:D453E	ENSP00000261799:D453E	D	-	3	2	PDGFRB	149490303	1.000000	0.71417	0.999000	0.59377	0.803000	0.45373	1.174000	0.31932	0.142000	0.18901	-0.380000	0.06706	GAC	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000113721		0.587	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	54	0.00	0	G	NM_002609		149510110	149510110	-1	no_errors	ENST00000261799	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.996	T
PRR12	57479	genome.wustl.edu	37	19	50128449	50128449	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	86a6c2ed-a48a-4c8b-9af9-ef10d6fadf26	g.chr19:50128449C>T	ENST00000418929.2	+	13	5968	c.5956C>T	c.(5956-5958)Cgg>Tgg	p.R1986W	CTB-33G10.11_ENST00000600665.1_RNA	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1165							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGCGCTGCCGGGACCAGGT	0.567																																						dbGAP											0													92.0	98.0	96.0					19																	50128449		2076	4219	6295	-	-	-	SO:0001583	missense	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5956C>T	19.37:g.50128449C>T	ENSP00000394510:p.Arg1986Trp		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.R1986W	ENST00000418929.2	37	c.5956	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693599	0.48202	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.65	3.5	0.40072	.	0.118422	0.34156	N	0.004204	T	0.39253	0.1071	N	0.08118	0	0.32744	N	0.50726	D	0.76494	0.999	D	0.63488	0.915	T	0.53802	-0.8387	9	0.87932	D	0	-22.04	11.6544	0.51309	0.2456:0.7544:0.0:0.0	.	1986	Q9ULL5-3	.	W	1986;1166;1094	.	ENSP00000246798:R1166W	R	+	1	2	PRR12	54820261	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.721000	0.38032	2.316000	0.78162	0.505000	0.49811	CGG	PRR12	-	NULL	ENSG00000126464		0.567	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	298	0.00	0	C	NM_020719		50128449	50128449	+1	no_errors	ENST00000418929	ensembl	human	known	69_37n	missense	236	11.24	30	SNP	0.997	T
PRR12	57479	genome.wustl.edu	37	19	50128449	50128449	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1B5-01A-21D-A12Q-09	TCGA-E2-A1B5-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	58660f5f-2196-4a1f-a102-f173b9ce629b	aab6dd17-aa36-42fa-a54e-59c68c8922e7	g.chr19:50128449C>T	ENST00000418929.2	+	13	5968	c.5956C>T	c.(5956-5958)Cgg>Tgg	p.R1986W	CTB-33G10.11_ENST00000600665.1_RNA	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1165							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGCGCTGCCGGGACCAGGT	0.567																																						dbGAP											0													92.0	98.0	96.0					19																	50128449		2076	4219	6295	-	-	-	SO:0001583	missense	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5956C>T	19.37:g.50128449C>T	ENSP00000394510:p.Arg1986Trp		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.R1986W	ENST00000418929.2	37	c.5956	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693599	0.48202	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.65	3.5	0.40072	.	0.118422	0.34156	N	0.004204	T	0.39253	0.1071	N	0.08118	0	0.32744	N	0.50726	D	0.76494	0.999	D	0.63488	0.915	T	0.53802	-0.8387	9	0.87932	D	0	-22.04	11.6544	0.51309	0.2456:0.7544:0.0:0.0	.	1986	Q9ULL5-3	.	W	1986;1166;1094	.	ENSP00000246798:R1166W	R	+	1	2	PRR12	54820261	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.721000	0.38032	2.316000	0.78162	0.505000	0.49811	CGG	PRR12	-	NULL	ENSG00000126464		0.567	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	176	0.00	0	C	NM_020719		50128449	50128449	+1	no_errors	ENST00000418929	ensembl	human	known	69_37n	missense	236	11.24	30	SNP	0.997	T
