#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	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_End_position_hg18	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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	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_reference	i_refseq_mrna_id	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_type	i_ucsc_cons	i_variant
VPS13D	55187	genome.wustl.edu	37	1	12460296	12460296	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr1:12460296G>A	ENST00000358136.3	+	61	11823	c.11693G>A	c.(11692-11694)aGc>aAc	p.S3898N	VPS13D_ENST00000356315.4_Missense_Mutation_p.S3873N|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTCCCCTGAGCAATGAGAAT	0.517																																						dbGAP											0			1											119.0	102.0	108.0					1																	12460296		2203	4300	6503	12382883	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11693G>A	1.37:g.12460296G>A	ENSP00000350854:p.Ser3898Asn	160	1.22	2		13	23.53	4	12382883	39	22.00	11		Missense_Mutation	SNP	HMMPfam_UBA,superfamily_UBA-like,HMMPfam_DUF1162,HMMSmart_SM00165	p.S3898N	ENST00000358136.3	37	c.11693	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.23|18.23	3.578869|3.578869	0.65878|0.65878	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53640	.|0.61;0.61	6.03|6.03	5.11|5.11	0.69529|0.69529	.|.	.|0.334540	.|0.41194	.|D	.|0.000927	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|B;P	.|0.34909	.|0.025;0.475	.|B;B	.|0.32211	.|0.031;0.142	T|T	0.41378|0.41378	-0.9512|-0.9512	5|10	.|0.48119	.|T	.|0.1	.|.	11.7241|11.7241	0.51700|0.51700	0.0:0.2311:0.6357:0.1333|0.0:0.2311:0.6357:0.1333	.|.	.|3873;3897	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	T|N	2720|3873;3898	.|ENSP00000348666:S3873N;ENSP00000350854:S3898N	.|ENSP00000348666:S3873N	A|S	+|+	1|2	0|0	VPS13D|VPS13D	12382883|12382883	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.435000|1.435000	0.34969|0.34969	1.537000|1.537000	0.49254|0.49254	0.655000|0.655000	0.94253|0.94253	GCA|AGC	-	NULL		0.517	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12382883	+1	no_errors	NM_015378.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	A
PSME4	23198	genome.wustl.edu	37	2	54115909	54115909	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr2:54115909A>C	ENST00000404125.1	-	38	4392	c.4337T>G	c.(4336-4338)cTg>cGg	p.L1446R	PSME4_ENST00000476586.1_5'Flank|PSME4_ENST00000421748.2_Missense_Mutation_p.L590R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1446					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCCAACAGCAGTTCAAAAAG	0.368																																						dbGAP											0			2											123.0	120.0	121.0					2																	54115909		2203	4300	6503	53969413	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4337T>G	2.37:g.54115909A>C	ENSP00000384211:p.Leu1446Arg	71	0.00	0		60	20.00	15	53969413	60	29.41	25	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	HMMPfam_HEAT,superfamily_ARM repeat	p.L1332R	ENST00000404125.1	37	c.3995	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731242	0.89390	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.26067	1.76;1.78	5.74	5.74	0.90152	Armadillo-type fold (1);	0.126375	0.53938	D	0.000053	T	0.39600	0.1084	L	0.56769	1.78	0.58432	D	0.999999	P;D;P	0.53462	0.624;0.96;0.89	B;P;B	0.54312	0.426;0.748;0.298	T	0.07462	-1.0771	10	0.24483	T	0.36	-12.9132	16.043	0.80698	1.0:0.0:0.0:0.0	.	821;590;1446	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	590;1446	ENSP00000410830:L590R;ENSP00000384211:L1446R	ENSP00000384211:L1446R	L	-	2	0	PSME4	53969413	1.000000	0.71417	0.601000	0.28877	0.991000	0.79684	9.339000	0.96797	2.181000	0.69327	0.528000	0.53228	CTG	-	superfamily_ARM repeat		0.368	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	protein_coding	OTTHUMT00000324163.1	A	XM_040158		53969413	-1	no_errors	NM_014614.2	genbank	human	validated	54_36p	missense	SNP	1.000	C
FRYL	285527	genome.wustl.edu	37	4	48567709	48567709	+	Splice_Site	SNP	C	C	T			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr4:48567709C>T	ENST00000503238.1	-	26	3169		c.e26-1		FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000507711.1_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCTGGTGCACTGTGAATAAA	0.343																																						dbGAP											0			4											80.0	74.0	76.0					4																	48567709		1835	4082	5917	48262466	SO:0001630	splice_region_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3170-1G>A	4.37:g.48567709C>T		57	0.00	0		4	0.00	0	48262466	48	22.58	14	O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	-	e26-1	ENST00000503238.1	37	c.3170-1	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478404	0.63849	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48262466	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	7.792000	0.85828	2.894000	0.99253	0.591000	0.81541	.	-	-		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	protein_coding	OTTHUMT00000369265.2	C		Intron	48262466	-1	no_errors	NM_015030.1	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
MROH2B	133558	genome.wustl.edu	37	5	41058297	41058297	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr5:41058297G>T	ENST00000399564.4	-	7	1074	c.624C>A	c.(622-624)agC>agA	p.S208R	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	208																	CCTTAACGATGCTCAAAGTCT	0.507																																						dbGAP											0			5											51.0	49.0	50.0					5																	41058297		1920	4132	6052	41094054	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.624C>A	5.37:g.41058297G>T	ENSP00000382476:p.Ser208Arg	385	1.02	4		NA	NA	NA	41094054	60	23.08	18	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM repeat	p.S208R	ENST00000399564.4	37	c.624	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	5.156	0.214419	0.09810	.	.	ENSG00000171495	ENST00000399564	T	0.06528	3.29	4.73	0.307	0.15811	Armadillo-type fold (1);	1.556560	0.03819	N	0.267194	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.30281	0.275	B	0.29353	0.101	T	0.36986	-0.9725	10	0.72032	D	0.01	.	2.9914	0.05984	0.2229:0.0:0.4095:0.3676	.	208	Q7Z745	HTRB2_HUMAN	R	208	ENSP00000382476:S208R	ENSP00000382476:S208R	S	-	3	2	HEATR7B2	41094054	0.854000	0.29725	0.009000	0.14445	0.001000	0.01503	1.366000	0.34193	0.226000	0.20979	-0.355000	0.07637	AGC	-	NULL		0.507	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41094054	-1	no_errors	NM_173489.4	genbank	human	validated	54_36p	missense	SNP	0.001	T
PCDHB16	57717	genome.wustl.edu	37	5	140563348	140563348	+	Missense_Mutation	SNP	C	C	T	rs370659703		TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr5:140563348C>T	ENST00000361016.2	+	1	2369	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTTGGTAACGGAGAGAGCA	0.463																																						dbGAP											0			5											88.0	94.0	92.0					5																	140563348		2203	4300	6503	140543532	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1214C>T	5.37:g.140563348C>T	ENSP00000354293:p.Thr405Met	47	0.00	0		NA	NA	NA	140543532	18	18.18	4	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.T405M	ENST00000361016.2	37	c.1214	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032543	0.54790	.	.	ENSG00000196963	ENST00000361016	T	0.56941	0.43	4.3	4.3	0.51218	Cadherin (4);Cadherin-like (1);	0.000000	0.35378	N	0.003251	T	0.81278	0.4789	H	0.99026	4.405	0.28580	N	0.910209	D;D	0.76494	0.994;0.999	P;D	0.69824	0.78;0.966	T	0.79610	-0.1732	10	0.87932	D	0	.	10.2406	0.43310	0.0:0.8495:0.0:0.1505	.	95;405	O15199;Q9NRJ7	.;PCDBG_HUMAN	M	405	ENSP00000354293:T405M	ENSP00000354293:T405M	T	+	2	0	PCDHB16	140543532	0.349000	0.24870	0.058000	0.19502	0.827000	0.46813	2.518000	0.45537	1.936000	0.56123	0.585000	0.79938	ACG	-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.463	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	protein_coding	OTTHUMT00000251800.1	C	NM_020957		140543532	+1	no_errors	NM_020957.1	genbank	human	reviewed	54_36p	missense	SNP	0.301	T
ADRA1A	148	genome.wustl.edu	37	8	26627861	26627861	+	Silent	SNP	G	G	A			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr8:26627861G>A	ENST00000519229.1	-	2	1212	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	ADRA1A_ENST00000380582.3_Silent_p.S402S|ADRA1A_ENST00000354550.4_Silent_p.S402S|ADRA1A_ENST00000380573.3_Silent_p.S402S|ADRA1A_ENST00000276393.4_Silent_p.S402S|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.S402S			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	367					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CACGGGGCATGGAAGAGAAAA	0.517																																						dbGAP											0			8											115.0	115.0	115.0					8																	26627861		2203	4300	6503	26683778	SO:0001819	synonymous_variant	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1206C>T	8.37:g.26627861G>A		280	0.35	1		NA	NA	NA	26683778	53	27.03	20	Q9NPY0	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.S402	ENST00000519229.1	37	c.1206		8																																																																																			-	NULL		0.517	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	protein_coding	OTTHUMT00000376207.1	G	NM_033303		26683778	-1	no_errors	NM_033303.2	genbank	human	reviewed	54_36p	silent	SNP	0.173	A
TFAM	7019	genome.wustl.edu	37	10	60154791	60154791	+	Missense_Mutation	SNP	G	G	A	rs375752119		TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr10:60154791G>A	ENST00000487519.1	+	7	1224	c.698G>A	c.(697-699)cGc>cAc	p.R233H	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Missense_Mutation_p.R201H	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	233					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTTCTACGTCGCACAATAAAG	0.383																																						dbGAP											0			10						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	85.0	73.0	77.0		698	4.4	0.8	10		77	0,8600		0,0,4300	no	missense	TFAM	NM_003201.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	233/247	60154791	2,13004	2203	4300	6503	59824797	SO:0001583	missense	0			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.698G>A	10.37:g.60154791G>A	ENSP00000420588:p.Arg233His	93	0.00	0		26	18.75	6	59824797	28	36.36	16	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Missense_Mutation	SNP	HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box	p.R233H	ENST00000487519.1	37	c.698	CCDS7253.1	10	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695119	0.48202	4.54E-4	0.0	ENSG00000108064	ENST00000487519;ENST00000373895	T;D	0.99226	2.44;-5.59	5.32	4.41	0.53225	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.197304	0.42420	D	0.000711	D	0.98960	0.9646	M	0.66939	2.045	0.37101	D	0.899905	D;D	0.89917	1.0;0.986	P;B	0.62435	0.902;0.407	D	0.99932	1.1331	10	0.56958	D	0.05	.	9.7982	0.40748	0.0946:0.0:0.9054:0.0	.	201;233	A8MRB2;Q00059	.;TFAM_HUMAN	H	233;201	ENSP00000420588:R233H;ENSP00000363002:R201H	ENSP00000363002:R201H	R	+	2	0	TFAM	59824797	0.966000	0.33281	0.843000	0.33291	0.166000	0.22503	2.033000	0.41136	1.239000	0.43787	0.609000	0.83330	CGC	-	superfamily_HMG-box		0.383	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAM	protein_coding	OTTHUMT00000048146.1	G	NM_003201		59824797	+1	no_errors	NM_003201.1	genbank	human	provisional	54_36p	missense	SNP	0.053	A
BUB3	9184	genome.wustl.edu	37	10	124921780	124921780	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr10:124921780G>T	ENST00000368865.4	+	6	814	c.605G>T	c.(604-606)cGa>cTa	p.R202L	BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000538238.1_Missense_Mutation_p.R122L|BUB3_ENST00000368858.5_Missense_Mutation_p.R202L|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	202					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.R202L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ATTGAAGGCCGAGTGGCAGTT	0.393																																					GBM(161;1111 1985 17553 20049 26037)	dbGAP											2	Substitution - Missense(2)	lung(2)	10											196.0	214.0	208.0					10																	124921780		2203	4300	6503	124911770	SO:0001583	missense	0			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.605G>T	10.37:g.124921780G>T	ENSP00000357858:p.Arg202Leu	102	0.00	0		103	27.46	39	124911770	39	15.22	7	A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.R202L	ENST00000368865.4	37	c.605	CCDS7635.1	10	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977166	0.92982	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.70399	-0.48;1.58;-0.48;-0.48	5.5	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.92901	0.6339	10	0.87932	D	0	-4.8033	14.363	0.66785	0.0714:0.0:0.9286:0.0	.	202;202	O43684;O43684-2	BUB3_HUMAN;.	L	202;122;202;202	ENSP00000357858:R202L;ENSP00000444354:R122L;ENSP00000357851:R202L;ENSP00000383941:R202L	ENSP00000357851:R202L	R	+	2	0	BUB3	124911770	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.767000	0.98960	1.448000	0.47680	0.650000	0.86243	CGA	-	superfamily_WD40 repeat-like		0.393	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BUB3	protein_coding	OTTHUMT00000050835.1	G			124911770	+1	no_errors	NM_004725.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ELF5	2001	genome.wustl.edu	37	11	34515066	34515066	+	Silent	SNP	G	G	A	rs200848772|rs34981489		TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr11:34515066G>A	ENST00000312319.2	-	3	574	c.345C>T	c.(343-345)ggC>ggT	p.G115G	ELF5_ENST00000528709.1_Intron|ELF5_ENST00000532417.1_Silent_p.G105G|ELF5_ENST00000257832.2_Silent_p.G105G|ELF5_ENST00000429939.2_Intron	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	115	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				ACAGGTACTCGCCGCAGAGGC	0.552											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19844	0.0		0.001	False		,,,				2504	0.0				Melanoma(61;202 1660 4348 21594)	dbGAP											0			11											65.0	50.0	55.0					11																	34515066		2202	4298	6500	34471642	SO:0001819	synonymous_variant	0			AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.345C>T	11.37:g.34515066G>A		125	1.56	2	848	NA	NA	NA	34471642	24	20.00	6	A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	"HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain,superfamily_""Winged helix"" DNA-binding domain"	p.G115	ENST00000312319.2	37	c.345	CCDS7892.1	11																																																																																			-	HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain		0.552	ELF5-002	KNOWN	basic|CCDS	protein_coding	ELF5	protein_coding	OTTHUMT00000389845.1	G	NM_198381		34471642	-1	no_errors	NM_198381.2	genbank	human	reviewed	54_36p	silent	SNP	0.979	A
HERC2P4	100289574	genome.wustl.edu	37	16	32163566	32163566	+	IGR	SNP	G	G	A			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr16:32163566G>A								RP11-1166P10.6 (67460 upstream) : HERC2P4 (17738 downstream)																							TGGCCGCCCAGGCACAGGCGA	0.597																																						dbGAP											0			16																																								32071067	SO:0001628	intergenic_variant	0																															16.37:g.32163566G>A		181	0.55	1		0	0.00	0	32071067	24	14.29	4		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.597					HERC2P4			G			32071067	-1	pseudogene	NR_002827.1	genbank	human	provisional	54_36p	rna	SNP	0.793	A
ADAM11	4185	genome.wustl.edu	37	17	42855399	42855399	+	Missense_Mutation	SNP	C	C	A	rs374608514	byFrequency	TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr17:42855399C>A	ENST00000200557.6	+	24	2319	c.2150C>A	c.(2149-2151)aCg>aAg	p.T717K	ADAM11_ENST00000535346.1_Missense_Mutation_p.T517K	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	717					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCCCTGCCCACGTCCCCACCC	0.602																																						dbGAP											0			17											92.0	94.0	93.0					17																	42855399		2203	4300	6503	40210925	SO:0001583	missense	0			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2150C>A	17.37:g.42855399C>A	ENSP00000200557:p.Thr717Lys	124	0.00	0		NA	NA	NA	40210925	14	33.33	7	Q14808|Q14809|Q14810	Missense_Mutation	SNP	"HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_CR,HMMSmart_SM00608,PatternScan_EGF_1,HMMPfam_EGF_2,PatternScan_DISINTEGRIN_1,superfamily_Metalloproteases (""zincins"") catalytic domain,superfamily_EGF/Laminin"	p.T717K	ENST00000200557.6	37	c.2150	CCDS11486.1	17	.	.	.	.	.	.	.	.	.	.	C	0.566	-0.843271	0.02671	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.01963	4.53;4.91	4.82	4.82	0.62117	.	0.421199	0.24229	N	0.040375	T	0.01835	0.0058	N	0.22421	0.69	0.28072	N	0.932522	B;B	0.30686	0.002;0.29	B;B	0.30401	0.008;0.115	T	0.42515	-0.9447	10	0.33141	T	0.24	.	6.2948	0.21079	0.1848:0.7208:0.0:0.0944	.	517;717	B4DKD2;O75078	.;ADA11_HUMAN	K	717;517	ENSP00000200557:T717K;ENSP00000443773:T517K	ENSP00000200557:T717K	T	+	2	0	ADAM11	40210925	0.150000	0.22732	0.917000	0.36280	0.892000	0.51952	1.420000	0.34804	2.220000	0.72140	0.561000	0.74099	ACG	-	NULL		0.602	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	protein_coding	OTTHUMT00000444531.1	C	NM_002390		40210925	+1	no_errors	NM_002390.4	genbank	human	reviewed	54_36p	missense	SNP	0.071	A
MGAT5B	146664	genome.wustl.edu	37	17	74934142	74934142	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr17:74934142C>T	ENST00000569840.2	+	13	2075	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	MGAT5B_ENST00000428789.2_Missense_Mutation_p.R510W|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R499W	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	501					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGAGCCAGCGGCCCCCCGA	0.577																																						dbGAP											0			17											67.0	66.0	66.0					17																	74934142		2203	4300	6503	72445737	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1501C>T	17.37:g.74934142C>T	ENSP00000456037:p.Arg501Trp	294	0.00	0		NA	NA	NA	72445737	34	17.07	7	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	NULL	p.R510W	ENST00000569840.2	37	c.1528	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058068	0.76074	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.48522	0.81;0.81	4.65	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.68584	-0.5370	10	0.72032	D	0.01	-40.6726	12.5914	0.56445	0.2898:0.7102:0.0:0.0	.	510;499	Q3V5L5-2;Q3V5L5-5	.;.	W	499;510	ENSP00000301618:R499W;ENSP00000391227:R510W	ENSP00000301618:R499W	R	+	1	2	MGAT5B	72445737	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.515000	0.45512	2.116000	0.64780	0.455000	0.32223	CGG	-	NULL		0.577	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	protein_coding	OTTHUMT00000460624.2	C	NM_144677		72445737	+1	no_errors	NM_198955.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
