#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
PTPRD	5789	genome.wustl.edu	37	9	8317920	8317920	+	Missense_Mutation	SNP	C	C	T	rs200610422		TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr9:8317920C>T	ENST00000381196.4	-	43	6236	c.5693G>A	c.(5692-5694)cGt>cAt	p.R1898H	PTPRD_ENST00000397606.3_Missense_Mutation_p.R1491H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1898H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1898H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1488H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1488H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1885H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1876H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1492H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1491H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1491H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1898	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGTGCGGCACGATAGGAAAA	0.413										TSP Lung(15;0.13)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17024	0.0		0.001	False		,,,				2504	0.0						0.9998,0.0001997											0													129.0	135.0	133.0					9																	8317920		2203	4299	6502	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5693G>A	9.37:g.8317920C>T	ENSP00000370593:p.Arg1898His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R1898H	ENST00000381196.4	37	c.5693	CCDS43786.1	9	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.55	2.568379	0.45798	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	L	0.42529	1.33	0.80722	D	1	D;D;D;D;P;D;P;D;B	0.89917	0.998;0.998;0.998;0.998;0.877;0.998;0.67;1.0;0.418	D;D;D;D;B;P;B;D;B	0.91635	0.932;0.932;0.932;0.932;0.221;0.888;0.32;0.999;0.189	D	0.88255	0.2919	10	0.56958	D	0.05	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1491;1482;1491;1492;1488;1488;1885;1898;1898	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1898;1898;1885;1876;1492;1491;1488;1488;1369;1898;1491;1491	ENSP00000370593:R1898H;ENSP00000348812:R1898H;ENSP00000353187:R1885H;ENSP00000351293:R1876H;ENSP00000347373:R1492H;ENSP00000380741:R1491H;ENSP00000380735:R1488H;ENSP00000440515:R1488H;ENSP00000438164:R1898H;ENSP00000417093:R1491H;ENSP00000380731:R1491H	ENSP00000340918:R1369H	R	-	2	0	PTPRD	8307920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.762000	0.55250	2.885000	0.99019	0.655000	0.94253	CGT	0	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt		0.413	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	protein_coding	OTTHUMT00000055395.3	42	251	0	0.00	0	0	C		rs200610422	C->T		8317920	-1	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	52	196	8.77	6.19	5	13	SNP	1	T
NBPF9	400818	genome.wustl.edu	37	1	144823868	144823868	+	Missense_Mutation	SNP	T	T	G	rs61807127		TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr1:144823868T>G	ENST00000281815.8	+	9	936	c.190T>G	c.(190-192)Tat>Gat	p.Y64D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D|NBPF9_ENST00000440491.2_Missense_Mutation_p.Y379D			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GGACTCACTGTATAGATGTTA	0.478																																							0											0																																										SO:0001583	missense	0				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.190T>G	1.37:g.144823868T>G	ENSP00000281815:p.Tyr64Asp			Missense_Mutation	SNP	pfam_NBPF_dom	p.Y64D	ENST00000281815.8	37	c.190		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.727028|-2.727028	0.00091|0.00091	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491;ENST00000281815	.|T;T;T	.|0.03035	.|4.07;4.07;4.07	0.431|0.431	0.431|0.431	0.16523|0.16523	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43814|0.43814	-0.9368|-0.9368	3|5	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	W|D	377|379;379;64	.|ENSP00000342975:Y379D;ENSP00000390934:Y379D;ENSP00000281815:Y64D	.|ENSP00000281815:Y64D	C|Y	+|+	3|1	2|0	NBPF9|NBPF9	143535225|143535225	0.130000|0.130000	0.22417|0.22417	0.001000|0.001000	0.08648|0.08648	0.032000|0.032000	0.12392|0.12392	-0.055000|-0.055000	0.11807|0.11807	-0.397000|-0.397000	0.07691|0.07691	-1.044000|-1.044000	0.02363|0.02363	TGT|TAT	0	pfam_NBPF_dom		0.478	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	NBPF9	protein_coding		33	4	2.94	0.00	1	0	T	NM_001037675	rs61807127	T->G		144823868	1	no_errors	ENST00000281815	ensembl	human	known	74_37	missense	46	0	13.21	0.00	7	0	SNP	0.001	G
PCDHA9	9752	genome.wustl.edu	37	5	140229771	140229771	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr5:140229771C>T	ENST00000532602.1	+	1	2724	c.1691C>T	c.(1690-1692)gCg>gTg	p.A564V	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A564V	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	564	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCGCCGGCGCTGCTGACA	0.692																																					Melanoma(55;1800 1972 14909)		0											0													59.0	64.0	62.0					5																	140229771		2196	4269	6465	SO:0001583	missense	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1691C>T	5.37:g.140229771C>T	ENSP00000436042:p.Ala564Val		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A564V	ENST00000532602.1	37	c.1691	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.458841	0.01062	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.17528	2.27;2.27	3.2	-4.08	0.03963	Cadherin (3);Cadherin-like (1);	7.921720	0.02726	U	0.114513	T	0.06690	0.0171	N	0.01656	-0.775	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.37337	-0.9710	10	0.52906	T	0.07	.	7.9395	0.29950	0.0:0.3774:0.1097:0.5129	.	564;564	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	564	ENSP00000436042:A564V;ENSP00000367362:A564V	ENSP00000367362:A564V	A	+	2	0	PCDHA9	140209955	0.000000	0.05858	0.063000	0.19743	0.005000	0.04900	-3.690000	0.00392	-0.951000	0.03654	-1.797000	0.00622	GCG	0	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	protein_coding	OTTHUMT00000372896.2	43	8	0	0.00	0	0	C	NM_031857	0	0		140229771	1	no_errors	ENST00000532602	ensembl	human	known	74_37	missense	35	5	10.26	0.00	4	0	SNP	0	T
USP31	57478	genome.wustl.edu	37	16	23160099	23160099	+	Missense_Mutation	SNP	G	G	A			TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr16:23160099G>A	ENST00000219689.7	-	1	492	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	118	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGCTCGGGCCGCCCCGCCCGG	0.726																																							0											0													7.0	8.0	7.0					16																	23160099		2128	4172	6300	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.493C>T	16.37:g.23160099G>A	ENSP00000219689:p.Arg165Trp		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R165W	ENST00000219689.7	37	c.493	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048850	0.55110	.	.	ENSG00000103404	ENST00000219689	T	0.31769	1.48	3.15	2.07	0.26955	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.663975	0.13811	N	0.361084	T	0.31765	0.0807	N	0.24115	0.695	0.21652	N	0.999605	D	0.69078	0.997	P	0.60473	0.875	T	0.06285	-1.0835	10	0.37606	T	0.19	-4.3954	7.5266	0.27658	0.0:0.2681:0.7319:0.0	.	165	Q70CQ4	UBP31_HUMAN	W	165	ENSP00000219689:R165W	ENSP00000219689:R165W	R	-	1	2	USP31	23067600	0.014000	0.17966	0.230000	0.23976	0.578000	0.36192	0.973000	0.29422	1.770000	0.52166	0.411000	0.27672	CGG	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.726	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	protein_coding	OTTHUMT00000211607.1	31	11	0	0.00	0	0	G	NM_020718	0	0		23160099	-1	no_errors	ENST00000219689	ensembl	human	known	74_37	missense	39	6	11.36	0.00	5	0	SNP	0.039	A
ZFHX3	463	genome.wustl.edu	37	16	73092895	73092895	+	5'UTR	SNP	C	C	T			TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr16:73092895C>T	ENST00000397992.5	-	0	702				ZFHX3_ENST00000558842.1_5'UTR|RP11-346C20.3_ENST00000604855.2_lincRNA|RP11-346C20.4_ENST00000606272.1_lincRNA	NM_001164766.1	NP_001158238.1	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCGGAGGGGACGCGCTGGAAG	0.562																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000397992.5:c.-490G>A	16.37:g.73092895C>T			D3DWS8|O15101|Q13719	RNA	SNP	0	NULL	ENST00000397992.5	37	NULL	CCDS54035.1	16																																																																																			0	0		0.562	ZFHX3-002	KNOWN	basic|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000419115.1	24	17	0	0.00	0	0	C	NM_006885	0	0		73092895	-1	no_errors	ENST00000558842	ensembl	human	known	74_37	rna	9	7	30.77	0.00	4	0	SNP	1	T
POTEH	23784	genome.wustl.edu	37	22	16277955	16277955	+	Intron	SNP	A	A	G	rs4819442		TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr22:16277955A>G	ENST00000343518.6	-	5	1080				RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTACCAATTTAACATCTTGCC	0.338																																							0											0																																										SO:0001627	intron_variant	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1029-70T>C	22.37:g.16277955A>G			A2CEK4|A6NCI1|A9Z1W0	RNA	SNP	0	NULL	ENST00000343518.6	37	NULL	CCDS46658.1	22																																																																																			0	0		0.338	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH-AS1	protein_coding	OTTHUMT00000276918.4	37	0	2.63	0.00	1	0	A	NM_001136213	rs4819442	A->G		16277955	1	no_errors	ENST00000422014	ensembl	human	known	74_37	rna	30	0	14.29	0.00	5	0	SNP	0.004	G
FNIP2	57600	genome.wustl.edu	37	4	159690435	159690435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr4:159690435delC	ENST00000264433.6	+	1	146	c.71delC	c.(70-72)gccfs	p.A24fs		NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	24					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCGGCGTCTGCCCAGGGCAGG	0.716																																							0											0													3.0	4.0	4.0					4																	159690435		1430	3465	4895	SO:0001589	frameshift_variant	0			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.71delC	4.37:g.159690435delC	ENSP00000264433:p.Ala24fs		Q05DC3|Q96I31|Q9H994	Frame_Shift_Del	DEL	NULL	p.Q25fs	ENST00000264433.6	37	c.71	CCDS47155.1	4																																																																																			0	NULL		0.716	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	protein_coding	OTTHUMT00000366602.1	8	17	0	0.00	0	0	C	NM_020840	0	0		159690435	1	no_errors	ENST00000264433	ensembl	human	known	74_37	frame_shift_del	4	10	33.33	0.00	2	0	DEL	0.994	0
