#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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_dbSNP	i_default_gene_name	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_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
CCDC28A	25901	genome.wustl.edu	37	6	139101104	139101104	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr6:139101104G>A	ENST00000332797.6	+	3	729	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	192										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TTTCCACTCTGGAAAACTTCA	0.403													ENSG00000024862																																					0													90.0	88.0	89.0					6																	139101104		2203	4300	6503	SO:0001583	missense	0			-	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.574G>A	6.37:g.139101104G>A	ENSP00000332716:p.Gly192Arg		E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	NULL	p.G192R	ENST00000332797.6	37	c.574	CCDS5192.1	6	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865730	0.91511	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.76578	-1.03	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87869	0.6286	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87830	0.2644	10	0.87932	D	0	-24.0377	20.4116	0.99017	0.0:0.0:1.0:0.0	.	192	Q8IWP9	CC28A_HUMAN	R	192;79	ENSP00000332716:G192R	ENSP00000026464:G79R	G	+	1	0	CCDC28A	139142797	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.415000	0.97375	2.827000	0.97445	0.655000	0.94253	GGA	-	CCDC28A	-	NULL		0.403	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28A	HGNC	protein_coding	OTTHUMT00000042444.1	0	0	0	80	80	97	0.00	0.00	G	NM_015439		139101104	+1	46	47	60	65	tier1	no_errors	ENST00000332797	ensembl	human	known	74_37	missense	43.40	41.96	SNP	1.000	A	46	60
MYO9A	4649	genome.wustl.edu	37	15	72141307	72141307	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr15:72141307C>T	ENST00000356056.5	-	39	7188	c.6716G>A	c.(6715-6717)tGt>tAt	p.C2239Y	MYO9A_ENST00000424560.1_Missense_Mutation_p.C2310Y|MYO9A_ENST00000444904.1_Missense_Mutation_p.C2220Y|MYO9A_ENST00000564571.1_Missense_Mutation_p.C2239Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2239	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGTTCCACACAACTGAAACA	0.368													ENSG00000066933																																					0													71.0	64.0	66.0					15																	72141307		2199	4297	6496	SO:0001583	missense	0			-	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6716G>A	15.37:g.72141307C>T	ENSP00000348349:p.Cys2239Tyr		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.C2310Y	ENST00000356056.5	37	c.6929	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844004	0.32606	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.41758	0.99;0.99;0.99	5.66	5.66	0.87406	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	.	.	.	.	T	0.71668	0.3367	M	0.86343	2.81	0.80722	D	1	B;D	0.89917	0.007;1.0	B;D	0.87578	0.008;0.998	T	0.75536	-0.3283	9	0.87932	D	0	.	20.1124	0.97915	0.0:1.0:0.0:0.0	.	2239;2003	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	Y	2239;2310;2220	ENSP00000348349:C2239Y;ENSP00000399162:C2310Y;ENSP00000398250:C2220Y	ENSP00000348349:C2239Y	C	-	2	0	MYO9A	69928361	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	7.461000	0.80834	2.834000	0.97654	0.655000	0.94253	TGT	-	MYO9A	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	0	0	0	84	84	93	0.00	0.00	C	NM_006901		72141307	-1	9	12	88	86	tier1	no_errors	ENST00000424560	ensembl	human	known	74_37	missense	9.28	12.24	SNP	1.000	T	9	88
VIPR1	7433	genome.wustl.edu	37	3	42573777	42573777	+	Missense_Mutation	SNP	A	A	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr3:42573777A>T	ENST00000325123.4	+	10	1075	c.962A>T	c.(961-963)cAg>cTg	p.Q321L	VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.Q280L|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000438259.2_Missense_Mutation_p.Q111L|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.Q273L|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	321					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ATCCTGCTTCAGAAACTGCGG	0.562													ENSG00000114812																																					0													152.0	141.0	145.0					3																	42573777		2203	4300	6503	SO:0001583	missense	0			-	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.962A>T	3.37:g.42573777A>T	ENSP00000327246:p.Gln321Leu		A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.Q321L	ENST00000325123.4	37	c.962	CCDS2698.1	3	.	.	.	.	.	.	.	.	.	.	A	27.9	4.869302	0.91587	.	.	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.61	4.61	0.57282	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.997;1.0	D;D;D;D	0.91635	0.999;0.997;0.993;0.999	T	0.57556	-0.7791	10	0.87932	D	0	.	14.0142	0.64515	1.0:0.0:0.0:0.0	.	294;111;273;321	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	L	280;273;111;321	ENSP00000394950:Q280L;ENSP00000445701:Q273L;ENSP00000415371:Q111L;ENSP00000327246:Q321L	ENSP00000327246:Q321L	Q	+	2	0	VIPR1	42548781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.715000	0.51383	0.533000	0.62120	CAG	-	VIPR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.562	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	HGNC	protein_coding	OTTHUMT00000254728.4	0	0	0	31	31	93	0.00	0.00	A	NM_004624		42573777	+1	16	37	27	46	tier1	no_errors	ENST00000325123	ensembl	human	known	74_37	missense	37.21	44.58	SNP	1.000	T	16	27
MME	4311	genome.wustl.edu	37	3	154859841	154859841	+	Missense_Mutation	SNP	A	A	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr3:154859841A>T	ENST00000460393.1	+	11	1139	c.1019A>T	c.(1018-1020)aAt>aTt	p.N340I	MME_ENST00000493237.1_Missense_Mutation_p.N340I|MME_ENST00000360490.2_Missense_Mutation_p.N340I|MME_ENST00000462745.1_Missense_Mutation_p.N340I|MME_ENST00000492661.1_Missense_Mutation_p.N340I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	340					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AGTATTACAAATGAGGAAGAT	0.373													ENSG00000196549																																					0													112.0	116.0	114.0					3																	154859841		2203	4300	6503	SO:0001583	missense	0			-		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1019A>T	3.37:g.154859841A>T	ENSP00000418525:p.Asn340Ile		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.N340I	ENST00000460393.1	37	c.1019	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	A	9.407	1.079467	0.20227	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	6.02	3.66	0.41972	Peptidase M13 (1);	0.387744	0.32640	N	0.005822	T	0.60805	0.2297	L	0.38175	1.15	0.34143	D	0.666597	B	0.11235	0.004	B	0.14023	0.01	T	0.59653	-0.7414	10	0.38643	T	0.18	-16.9933	6.311	0.21164	0.7308:0.1336:0.1355:0.0	.	340	P08473	NEP_HUMAN	I	340	ENSP00000420389:N340I;ENSP00000418525:N340I;ENSP00000419653:N340I;ENSP00000417079:N340I;ENSP00000353679:N340I	ENSP00000353679:N340I	N	+	2	0	MME	156342535	1.000000	0.71417	0.953000	0.39169	0.986000	0.74619	4.814000	0.62627	0.529000	0.28599	0.482000	0.46254	AAT	-	MME	-	pfam_Peptidase_M13_N		0.373	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	0	0	0	67	67	101	0.00	0.00	A	NM_000902		154859841	+1	37	50	44	50	tier1	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	45.68	50.00	SNP	0.985	T	37	44
P2RY2	5029	genome.wustl.edu	37	11	72946213	72946213	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr11:72946213G>A	ENST00000311131.2	+	3	1476	c.1009G>A	c.(1009-1011)Ggc>Agc	p.G337S	P2RY2_ENST00000393597.2_Missense_Mutation_p.G337S|P2RY2_ENST00000393596.2_Missense_Mutation_p.G337S	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	337					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGCAGGCTGGGCCTGCGCAG	0.647													ENSG00000175591																																					0													33.0	37.0	36.0					11																	72946213		2198	4292	6490	SO:0001583	missense	0			-	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1009G>A	11.37:g.72946213G>A	ENSP00000310305:p.Gly337Ser		B2R9W3|Q96EM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt	p.G337S	ENST00000311131.2	37	c.1009	CCDS8219.1	11	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335256	0.24253	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.25749	1.78;1.78;1.78	4.44	3.5	0.40072	.	0.912427	0.09133	N	0.844051	T	0.12390	0.0301	N	0.08118	0	0.32133	N	0.586557	B	0.10296	0.003	B	0.11329	0.006	T	0.20174	-1.0283	10	0.14252	T	0.57	.	7.6562	0.28377	0.1152:0.0:0.8848:0.0	.	337	P41231	P2RY2_HUMAN	S	337	ENSP00000377222:G337S;ENSP00000310305:G337S;ENSP00000377221:G337S	ENSP00000310305:G337S	G	+	1	0	P2RY2	72623861	0.000000	0.05858	1.000000	0.80357	0.562000	0.35680	0.308000	0.19314	2.196000	0.70406	0.561000	0.74099	GGC	-	P2RY2	-	prints_P2Y2_rcpt		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY2	HGNC	protein_coding	OTTHUMT00000397336.1	0	0	0	45	45	21	0.00	0.00	G	NM_176072		72946213	+1	27	2	38	10	tier1	no_errors	ENST00000311131	ensembl	human	known	74_37	missense	40.91	16.67	SNP	0.965	A	27	38
STT3A	3703	genome.wustl.edu	37	11	125476332	125476332	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr11:125476332C>T	ENST00000529196.1	+	9	958	c.752C>T	c.(751-753)tCt>tTt	p.S251F	STT3A_ENST00000392708.4_Missense_Mutation_p.S251F|STT3A_ENST00000531491.1_Missense_Mutation_p.S159F			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	251					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ACTATACTTTCTATGCAGATC	0.473													ENSG00000134910																																					0													269.0	242.0	251.0					11																	125476332		2201	4299	6500	SO:0001583	missense	0			-	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.752C>T	11.37:g.125476332C>T	ENSP00000436962:p.Ser251Phe		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.S251F	ENST00000529196.1	37	c.752	CCDS8458.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.381158	0.95945	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.992;0.992	D	0.87524	0.2448	9	0.56958	D	0.05	-19.8209	20.177	0.98182	0.0:1.0:0.0:0.0	.	159;159;251	B4DJ24;E9PNQ1;P46977	.;.;STT3A_HUMAN	F	251;251;159	.	ENSP00000376472:S251F	S	+	2	0	STT3A	124981542	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	TCT	-	STT3A	-	pfam_Oligo_trans_STT3		0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	HGNC	protein_coding	OTTHUMT00000386691.1	0	0	1	144	144	89	0.00	1.11	C	NM_152713		125476332	+1	66	46	93	58	tier1	no_errors	ENST00000392708	ensembl	human	known	74_37	missense	41.25	44.23	SNP	1.000	T	66	93
DPEP1	1800	genome.wustl.edu	37	16	89702773	89702773	+	Silent	SNP	G	G	A	rs374005684		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr16:89702773G>A	ENST00000393092.3	+	4	630	c.339G>A	c.(337-339)ccG>ccA	p.P113P	DPEP1_ENST00000261615.4_Silent_p.P113P|DPEP1_ENST00000421184.1_Silent_p.P113P	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	113					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGATGTACCCGGAGACCTTCC	0.632													ENSG00000015413																																					0									,	0,4372		0,0,2186	67.0	53.0	58.0		339,339	-10.8	0.0	16		58	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous	DPEP1	NM_001128141.1,NM_004413.3	,	0,1,6479	AA,AG,GG		0.0116,0.0,0.0077	,	113/412,113/412	89702773	1,12959	2186	4294	6480	SO:0001819	synonymous_variant	0			-		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.339G>A	16.37:g.89702773G>A			D3DX80|Q96AK2	Silent	SNP	pfam_Peptidase_M19	p.P113	ENST00000393092.3	37	c.339	CCDS10982.1	16																																																																																			-	DPEP1	-	pfam_Peptidase_M19		0.632	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	HGNC	protein_coding	OTTHUMT00000423058.1	0	0	0	67	67	36	0.00	0.00	G	NM_001128141		89702773	+1	33	15	37	32	tier1	no_errors	ENST00000261615	ensembl	human	known	74_37	silent	47.14	31.91	SNP	0.001	A	33	37
PZP	5858	genome.wustl.edu	37	12	9311088	9311088	+	Silent	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr12:9311088C>T	ENST00000261336.2	-	26	3250	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Silent_p.T860T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1074					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGGAGAGCCACGTGAGAGATT	0.488													ENSG00000126838																									Melanoma(125;1402 1695 4685 34487 38571)												0													190.0	175.0	180.0					12																	9311088		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3222G>A	12.37:g.9311088C>T			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.T1074	ENST00000261336.2	37	c.3222	CCDS8600.1	12																																																																																			-	PZP	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.488	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	0	0	0	97	97	59	0.00	0.00	C	NM_002864		9311088	-1	54	30	69	26	tier1	no_errors	ENST00000261336	ensembl	human	known	74_37	silent	43.90	53.57	SNP	0.026	T	54	69
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	-	TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	60	60	114	0.00	0.00	T	NM_000546		7578190	-1	21	40	11	20	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	65.62	66.67	SNP	0.998	C	21	11
VN1R2	317701	genome.wustl.edu	37	19	53762741	53762741	+	Missense_Mutation	SNP	C	C	G			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr19:53762741C>G	ENST00000341702.3	+	1	1197	c.1113C>G	c.(1111-1113)gaC>gaG	p.D371E	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	371					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGTGCCGTGACCCCAGCAGAT	0.443													ENSG00000196131																																					0													157.0	149.0	152.0					19																	53762741		2203	4300	6503	SO:0001583	missense	0			-	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1113C>G	19.37:g.53762741C>G	ENSP00000351244:p.Asp371Glu		A1L411|Q8TDU4	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.D371E	ENST00000341702.3	37	c.1113	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282942	0.40394	.	.	ENSG00000196131	ENST00000341702	T	0.37584	1.19	2.94	0.665	0.17896	.	.	.	.	.	T	0.39306	0.1073	L	0.57130	1.785	0.09310	N	1	P	0.39022	0.655	P	0.47786	0.557	T	0.28004	-1.0057	9	0.41790	T	0.15	.	5.0924	0.14715	0.2229:0.5091:0.268:0.0	.	371	Q8NFZ6	VN1R2_HUMAN	E	371	ENSP00000351244:D371E	ENSP00000351244:D371E	D	+	3	2	VN1R2	58454553	0.076000	0.21285	0.004000	0.12327	0.038000	0.13279	0.262000	0.18460	0.275000	0.22094	0.596000	0.82720	GAC	-	VN1R2	-	prints_Vmron_rcpt_1		0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1	0	0	0	77	77	57	0.00	0.00	C	NM_173856		53762741	+1	36	23	42	34	tier1	no_errors	ENST00000341702	ensembl	human	known	74_37	missense	46.15	40.35	SNP	0.005	G	36	42
ZMYND12	84217	genome.wustl.edu	37	1	42914153	42914153	+	Missense_Mutation	SNP	C	C	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr1:42914153C>A	ENST00000372565.3	-	3	678	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	137						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGGCCTCGGCCAACAGCAGG	0.527													ENSG00000066185																																					0													62.0	57.0	59.0					1																	42914153		2203	4300	6503	SO:0001583	missense	0			-	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.409G>T	1.37:g.42914153C>A	ENSP00000361646:p.Ala137Ser		Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.A137S	ENST00000372565.3	37	c.409	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352517	0.41700	.	.	ENSG00000066185	ENST00000372565	T	0.71461	-0.57	5.34	-1.03	0.10102	Tetratricopeptide-like helical (1);	0.164898	0.52532	N	0.000065	T	0.56202	0.1969	L	0.39085	1.19	0.50467	D	0.999874	B	0.18461	0.028	B	0.15052	0.012	T	0.49643	-0.8918	10	0.59425	D	0.04	-2.3795	10.6475	0.45628	0.4562:0.4396:0.1041:0.0	.	137	Q9H0C1	ZMY12_HUMAN	S	137	ENSP00000361646:A137S	ENSP00000361646:A137S	A	-	1	0	ZMYND12	42686740	0.998000	0.40836	0.814000	0.32528	0.946000	0.59487	0.980000	0.29513	-0.036000	0.13669	0.561000	0.74099	GCC	-	ZMYND12	-	NULL		0.527	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1	0	0	0	45	45	94	0.00	0.00	C	NM_032257		42914153	-1	35	38	24	65	tier1	no_errors	ENST00000372565	ensembl	human	known	74_37	missense	59.32	36.89	SNP	0.338	A	35	24
ARHGEF25	115557	genome.wustl.edu	37	12	58007532	58007532	+	Missense_Mutation	SNP	C	C	A	rs147980194		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr12:58007532C>A	ENST00000286494.4	+	5	1001	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.Q220K|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	181	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CGACTTGGGGCAGATTGTGGA	0.567													ENSG00000240771	C|||	1	0.000199681	0.0008	0.0	5008	,	,		19515	0.0		0.0	False		,,,				2504	0.0																0								C	LYS/GLN,LYS/GLN	2,4404	4.2+/-10.8	0,2,2201	135.0	132.0	133.0		658,541	3.8	1.0	12	dbSNP_134	133	0,8600		0,0,4300	no	missense,missense	ARHGEF25	NM_001111270.1,NM_182947.2	53,53	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	benign,benign	220/620,181/581	58007532	2,13004	2203	4300	6503	SO:0001583	missense	0			-		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.541C>A	12.37:g.58007532C>A	ENSP00000286494:p.Gln181Lys		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q220K	ENST00000286494.4	37	c.658	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	c	14.57	2.575170	0.45902	4.54E-4	0.0	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.62639	0.01;0.01	4.72	3.81	0.43845	Dbl homology (DH) domain (5);	0.236312	0.22224	N	0.062906	T	0.45975	0.1369	N	0.25245	0.725	0.44395	D	0.997309	B;B;B	0.15141	0.001;0.0;0.012	B;B;B	0.17098	0.004;0.004;0.017	T	0.36915	-0.9728	10	0.28530	T	0.3	.	11.5694	0.50824	0.0:0.91:0.0:0.09	.	220;181;55	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	K	220;55;181	ENSP00000335560:Q220K;ENSP00000286494:Q181K	ENSP00000286494:Q181K	Q	+	1	0	ARHGEF25	56293799	0.953000	0.32496	1.000000	0.80357	0.992000	0.81027	1.521000	0.35910	2.338000	0.79540	0.563000	0.77884	CAG	rs147980194	ARHGEF25	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.567	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1	0	0	0	60	60	127	0.00	0.00	C	NM_133483		58007532	+1	15	13	49	87	tier1	no_errors	ENST00000333972	ensembl	human	known	74_37	missense	23.44	13.00	SNP	1.000	A	15	49
ZYG11A	440590	genome.wustl.edu	37	1	53322695	53322695	+	Silent	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr1:53322695C>T	ENST00000371528.1	+	3	430	c.282C>T	c.(280-282)agC>agT	p.S94S	ZYG11A_ENST00000371532.1_Intron	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	94										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						GAACAGCCAGCATTTTCCGAG	0.408													ENSG00000203995																																					0													24.0	20.0	21.0					1																	53322695		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.282C>T	1.37:g.53322695C>T			A6NCK5	Silent	SNP	superfamily_ARM-type_fold	p.S94	ENST00000371528.1	37	c.282	CCDS44148.1	1																																																																																			-	ZYG11A	-	NULL		0.408	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11A	HGNC	protein_coding	OTTHUMT00000024856.3	0	0	0	37	37	110	0.00	0.00	C	NM_001004339		53322695	+1	8	12	36	94	tier1	no_errors	ENST00000371528	ensembl	human	known	74_37	silent	18.18	11.32	SNP	1.000	T	8	36
ANXA6	309	genome.wustl.edu	37	5	150488015	150488015	+	Splice_Site	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr5:150488015C>T	ENST00000354546.5	-	23	2008		c.e23+1		ANXA6_ENST00000356496.5_Splice_Site|ANXA6_ENST00000523714.1_Splice_Site|ANXA6_ENST00000521512.1_Splice_Site|ANXA6_ENST00000377751.5_Splice_Site	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6						calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCAGTTACCAATGGCCAC	0.512													ENSG00000197043																																					0													179.0	180.0	180.0					5																	150488015		2029	4181	6210	SO:0001630	splice_region_variant	0			-	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1780+1G>A	5.37:g.150488015C>T			B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Splice_Site	SNP	-	e22+1	ENST00000354546.5	37	c.1780+1	CCDS47315.1	5	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491102	0.84962	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3285	0.90261	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANXA6	150468208	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.425000	0.73370	2.630000	0.89119	0.655000	0.94253	.	-	ANXA6	-	-		0.512	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANXA6	HGNC	protein_coding	OTTHUMT00000377668.2	0	0	0	49	49	118	0.00	0.00	C	NM_001155	Intron	150488015	-1	5	23	24	95	tier1	no_errors	ENST00000354546	ensembl	human	known	74_37	splice_site	17.24	19.49	SNP	1.000	T	5	24
SMTN	6525	genome.wustl.edu	37	22	31500342	31500344	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	ATG	ATG	ATG	-	ATG	ATG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr22:31500342_31500344delATG	ENST00000347557.2	+	20	2862_2864	c.2644_2646delATG	c.(2644-2646)atgdel	p.M883del	SMTN_ENST00000404574.1_3'UTR|SELM_ENST00000465536.1_5'Flank|SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000358743.1_In_Frame_Del_p.M906del	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	883	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGTGGACGACATGATGATCATGG	0.635													ENSG00000183963																																					0																																										SO:0001651	inframe_deletion	0				AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2644_2646delATG	22.37:g.31500345_31500347delATG	ENSP00000328635:p.Met883del		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	In_Frame_Del	DEL	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.M883in_frame_del	ENST00000347557.2	37	c.2644_2646	CCDS13886.1	22																																																																																				SMTN	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.635	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	0	0	0	79	79	100	0.00	0.00	ATG	NM_134270		31500344	+1	33	24	51	36	tier1	no_errors	ENST00000347557	ensembl	human	known	74_37	in_frame_del	39.29	40.00	DEL	1.000:1.000:1.000	-	33	51
MED14	9282	genome.wustl.edu	37	X	40588606	40588606	+	Intron	DEL	A	A	-	rs200699843|rs369436436		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chrX:40588606delA	ENST00000324817.1	-	2	334					NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTAAGAAGAAAAAAAAAAA	0.318													ENSG00000180182																																					0													62.0	57.0	59.0					X																	40588606		2202	4299	6501	SO:0001627	intron_variant	0				AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.216-9T>-	X.37:g.40588606delA			Q4KMR7|Q9UNB3	R	DEL	-	NULL	ENST00000324817.1	37	NULL	CCDS14254.1	X																																																																																				MED14	-	-		0.318	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	0	0	0	31	31	16	0.00	0.00	A	NM_004229		40588606	-1	4	6	31	43	tier1	no_errors	ENST00000463072	ensembl	human	known	74_37	rna	11.43	12.24	DEL	0.000	-	4	31
RAB8A	4218	genome.wustl.edu	37	19	16244264	16244264	+	3'UTR	DEL	T	T	-			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr19:16244264delT	ENST00000300935.3	+	0	2047				HSH2D_ENST00000593154.2_5'Flank|HSH2D_ENST00000253680.6_5'Flank|HSH2D_ENST00000397372.4_5'Flank|CTD-2231E14.8_ENST00000597983.1_RNA|CTD-2231E14.8_ENST00000599676.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family						axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						tttttctttcttttttttttt	0.453													ENSG00000269243																																					0																																										SO:0001624	3_prime_UTR_variant	0					CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.*1150T>-	19.37:g.16244264delT			B4DEK7|P24407|Q6FHV5	R	DEL	-	NULL	ENST00000300935.3	37	NULL	CCDS12339.1	19																																																																																				CTD-2231E14.8	-	-		0.453	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269243	Clone_based_vega_gene	protein_coding	OTTHUMT00000460186.1	0	0	0	24	24	9	0.00	0.00	T	NM_005370		16244264	-1	4	3	22	13	tier1	no_errors	ENST00000599676	ensembl	human	known	74_37	rna	15.38	18.75	DEL	0.000	-	4	22
CENPE	1062	genome.wustl.edu	37	4	104080391	104080391	+	Missense_Mutation	SNP	C	C	G	rs376748245		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr4:104080391C>G	ENST00000265148.3	-	22	2466	c.2377G>C	c.(2377-2379)Ggt>Cgt	p.G793R	CENPE_ENST00000380026.3_Missense_Mutation_p.G768R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	793					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCAAGTAAACCTTGAACTCTA	0.318													ENSG00000138778																																					0													104.0	105.0	105.0					4																	104080391		2202	4297	6499	SO:0001583	missense	0			-	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2377G>C	4.37:g.104080391C>G	ENSP00000265148:p.Gly793Arg		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G793R	ENST00000265148.3	37	c.2377	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	c	8.524	0.869503	0.17322	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.66280	-0.2;-0.19;0.22	4.88	1.26	0.21427	.	.	.	.	.	T	0.44244	0.1284	L	0.34521	1.04	0.09310	N	1	P;P	0.49961	0.703;0.93	B;B	0.42692	0.395;0.216	T	0.24764	-1.0151	9	0.21540	T	0.41	.	2.7542	0.05288	0.1142:0.5038:0.1112:0.2707	.	768;793	Q02224-3;Q02224	.;CENPE_HUMAN	R	793;793;768;793	ENSP00000265148:G793R;ENSP00000369365:G768R;ENSP00000423981:G793R	ENSP00000265148:G793R	G	-	1	0	CENPE	104299840	0.047000	0.20315	0.991000	0.47740	0.558000	0.35554	0.284000	0.18864	-0.012000	0.14223	-0.745000	0.03516	GGT	-	CENPE	-	NULL		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		0	0	0	62	62	98	0.00	0.00	C			104080391	-1	9	10	44	102	tier1	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	16.98	8.93	SNP	0.181	G	9	44
BPIFA2	140683	genome.wustl.edu	37	20	31763325	31763325	+	Missense_Mutation	SNP	G	G	T	rs73904618	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr20:31763325G>T	ENST00000253362.2	+	5	669	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S	BPIFA2_ENST00000354932.5_Missense_Mutation_p.A175S			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	175						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GGGAGAATGCGCCAGTGACCC	0.522													ENSG00000131050																																					0													188.0	164.0	172.0					20																	31763325		2203	4300	6503	SO:0001583	missense	0			-	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.523G>T	20.37:g.31763325G>T	ENSP00000253362:p.Ala175Ser		Q9BQQ0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.A175S	ENST00000253362.2	37	c.523	CCDS13214.1	20	.	.	.	.	.	.	.	.	.	.	G	2.857	-0.236974	0.05944	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.04194	3.68;3.68	4.08	-8.16	0.01061	.	3.835250	0.00424	N	0.000070	T	0.01592	0.0051	N	0.04090	-0.28	0.09310	N	1	B	0.18310	0.027	B	0.18561	0.022	T	0.40646	-0.9552	10	0.02654	T	1	-27.2649	1.4427	0.02357	0.1602:0.2108:0.3639:0.2652	.	175	Q96DR5	BPIA2_HUMAN	S	175	ENSP00000253362:A175S;ENSP00000347012:A175S	ENSP00000253362:A175S	A	+	1	0	BPIFA2	31226986	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.084000	0.00612	-2.218000	0.00730	0.555000	0.69702	GCC	-	BPIFA2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom		0.522	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA2	HGNC	protein_coding	OTTHUMT00000257117.1	0	0	0	66	66	84	0.00	0.00	G	NM_080574		31763325	+1	13	4	60	68	tier1	no_errors	ENST00000253362	ensembl	human	known	74_37	missense	17.81	5.48	SNP	0.000	T	13	60
ROCK2	9475	genome.wustl.edu	37	2	11364484	11364484	+	Missense_Mutation	SNP	T	T	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr2:11364484T>A	ENST00000315872.6	-	7	1419	c.971A>T	c.(970-972)cAt>cTt	p.H324L	ROCK2_ENST00000401753.1_Missense_Mutation_p.H81L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATTCTTTGCATGTTTGGAAAT	0.318													ENSG00000134318																																					0													128.0	119.0	122.0					2																	11364484		1830	4082	5912	SO:0001583	missense	0			-	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.971A>T	2.37:g.11364484T>A	ENSP00000317985:p.His324Leu		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tR-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.H324L	ENST00000315872.6	37	c.971	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218801	0.58560	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000431087	T;T;T	0.64260	-0.09;-0.09;-0.09	5.71	4.52	0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178204	0.51477	D	0.000091	T	0.38983	0.1061	N	0.02202	-0.64	0.42692	D	0.993588	B	0.27971	0.196	B	0.32533	0.147	T	0.32955	-0.9887	10	0.38643	T	0.18	.	12.8476	0.57839	0.0:0.0:0.1363:0.8637	.	324	O75116	ROCK2_HUMAN	L	324;81;151	ENSP00000317985:H324L;ENSP00000385509:H81L;ENSP00000395957:H151L	ENSP00000261535:H324L	H	-	2	0	ROCK2	11281935	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.271000	0.72569	0.940000	0.37473	0.402000	0.26972	CAT	-	ROCK2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom		0.318	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	0	0	0	72	72	105	0.00	0.00	T			11364484	-1	11	7	78	73	tier1	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	12.36	8.75	SNP	1.000	A	11	78
VPS52	6293	genome.wustl.edu	37	6	33219511	33219511	+	Intron	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr6:33219511C>T	ENST00000445902.2	-	19	2125				VPS52_ENST00000436044.2_Intron|VPS52_ENST00000482399.1_Intron|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000442228.1_RNA|VPS52_ENST00000478934.1_Intron|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATCAAACCCTCTTTTCTGGTA	0.443													ENSG00000232940																																					0																																										SO:0001627	intron_variant	0			-	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1907-98G>A	6.37:g.33219511C>T			A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	R	SNP	-	NULL	ENST00000445902.2	37	NULL	CCDS4770.2	6																																																																																			-	HCG25	-	-		0.443	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCG25	HGNC	protein_coding	OTTHUMT00000076598.2	0	0	0	41	41	98	0.00	0.00	C	NM_022553		33219511	+1	10	10	46	95	tier1	no_errors	ENST00000422366	ensembl	human	known	74_37	rna	17.86	9.52	SNP	0.000	T	10	46
PRAMEF2	65122	genome.wustl.edu	37	1	12921627	12921627	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr1:12921627G>A	ENST00000240189.2	+	4	1505	c.1418G>A	c.(1417-1419)tGc>tAc	p.C473Y		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	473					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCATCTTTGCTGCTAGGGA	0.517													ENSG00000120952																																					0													13.0	16.0	15.0					1																	12921627		2008	4108	6116	SO:0001583	missense	0			-		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1418G>A	1.37:g.12921627G>A	ENSP00000240189:p.Cys473Tyr			Missense_Mutation	SNP	NULL	p.C473Y	ENST00000240189.2	37	c.1418	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	G	8.793	0.930939	0.18131	.	.	ENSG00000120952	ENST00000240189	T	0.03124	4.04	0.558	0.558	0.17266	.	1.432400	0.04998	N	0.468627	T	0.17023	0.0409	M	0.78456	2.415	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14172	-1.0482	9	0.44086	T	0.13	.	.	.	.	.	473	O60811	PRAM2_HUMAN	Y	473	ENSP00000240189:C473Y	ENSP00000240189:C473Y	C	+	2	0	PRAMEF2	12844214	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	-0.054000	0.11826	0.552000	0.29026	0.173000	0.16961	TGC	-	PRAMEF2	-	NULL		0.517	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	0	0	0	229	229	16	0.00	0.00	G	NM_023014		12921627	+1	20	1	114	7	tier1	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	14.93	12.50	SNP	0.005	A	20	114
NPIPA8	101059953	genome.wustl.edu	37	16	18438095	18438095	+	5'UTR	DEL	C	C	-			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr16:18438095delC	ENST00000339303.5	-	0	526				RP11-1212A22.1_ENST00000545152.1_RNA			P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		TTGCAGGACACACACTCCAAG	0.622													ENSG00000205746																																					0																																										SO:0001623	5_prime_UTR_variant	0					CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284	ENST00000339303.5:c.-3533G>-	16.37:g.18438095delC				R	DEL	-	NULL	ENST00000339303.5	37	NULL		16																																																																																				RP11-1212A22.1	-	-		0.622	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	ENSG00000205746	Clone_based_vega_gene	protein_coding		0	0	0	10	10	0	0.00	0.00	C			18438095	-1	3	0	6	0	tier1	no_errors	ENST00000535716	ensembl	human	known	74_37	rna	33.33	0.00	DEL	1.000	-	3	6
RIMS2	9699	genome.wustl.edu	37	8	104863873	104863880	+	Intron	DEL	ACACACAC	ACACACAC	-	rs56306101|rs10529078|rs369439768|rs59712615	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	ACACACAC	ACACACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr8:104863873_104863880delACACACAC	ENST00000507740.1	+	1	358				RIMS2_ENST00000522174.1_Intron|RIMS2_ENST00000262231.10_Intron|AP001572.1_ENST00000401294.1_RNA|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AATGCTATGTacacacacacacacacac	0.365										HNSCC(12;0.0054)			ENSG00000216113																																					0																																										SO:0001627	intron_variant	0				AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.122+32016ACACACAC>-	8.37:g.104863881_104863888delACACACAC			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	R	DEL	-	NULL	ENST00000507740.1	37	NULL	CCDS43761.1	8																																																																																				AP001572.1	-	-		0.365	RIMS2-005	NOVEL	basic|CCDS	protein_coding	ENSG00000216113	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000367215.1	0	0	0	1	1	1	0.00	0.00	ACACACAC	NM_001100117		104863880	+1	1	1	4	4	tier1	no_errors	ENST00000401294	ensembl	human	novel	74_37	rna	20.00	20.00	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-	1	4
GOLGA2P7	388152	genome.wustl.edu	37	15	84868712	84868724	+	RNA	DEL	GGGGGGGGGGGGA	GGGGGGGGGGGGA	-	rs372945855|rs111618525|rs200105620		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	GGGGGGGGGGGGA	GGGGGGGGGGGGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr15:84868712_84868724delGGGGGGGGGGGGA	ENST00000559668.1	-	0	3591_3603					NR_049748.1																						TGGCTGCGGGGGGGGGGGGGGGAGGGGTGGGAT	0.704													ENSG00000225151																																					0																																												0																																15.37:g.84868712_84868724delGGGGGGGGGGGGA				R	DEL	-	NULL	ENST00000559668.1	37	NULL		15																																																																																				AC103965.1	-	-		0.704	AC103965.1-008	KNOWN	basic	processed_transcript	LOC101929847	Clone_based_vega_gene	pseudogene	OTTHUMT00000418802.1	0	0	0	1	1	1	0.00	0.00	GGGGGGGGGGGGA			84868724	-1	0	0	2	2	tier1	no_errors	ENST00000316967	ensembl	human	known	74_37	rna	0.00	0.00	DEL	0.357:0.337:0.362:0.362:0.370:0.357:0.300:0.305:0.291:0.276:0.262:0.247:0.207	-	0	2
MT-CO1	4512	genome.wustl.edu	37	M	7210	7210	+	Missense_Mutation	SNP	T	T	C			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chrM:7210T>C	ENST00000361624.2	+	1	1307	c.1307T>C	c.(1306-1308)aTg>aCg	p.M436T	MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	436					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCTATCCGGAATGCCCCGACG	0.428													ENSG00000198804																																					0																																										SO:0001583	missense	0			-			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1307T>C	M.37:g.7210T>C	ENSP00000354499:p.Met436Thr		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.M436T	ENST00000361624.2	37	c.1307		MT																																																																																			-	MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1		0.428	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		0	0	0	17	17	0	0.00	0.00	T	YP_003024028		7210	+1	5	0	12	0	tier1	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	29.41	0.00	SNP	NULL	C	5	12
