#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AARS	16	genome.wustl.edu	37	16	70296374	70296374	+	Missense_Mutation	SNP	C	C	A	rs143844046		TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr16:70296374C>A	ENST00000261772.8	-	12	1689	c.1546G>T	c.(1546-1548)Gtg>Ttg	p.V516L	RN7SL407P_ENST00000583724.1_RNA|AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		ACCTCTTCCACGAACATCTTC	0.532																																						dbGAP											0													171.0	127.0	142.0					16																	70296374		2198	4300	6498	-	-	-	SO:0001583	missense	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1546G>T	16.37:g.70296374C>A	ENSP00000261772:p.Val516Leu			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	p.V516L	ENST00000261772.8	37	c.1546	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101762	0.56183	.	.	ENSG00000090861	ENST00000261772	T	0.77229	-1.08	6.15	5.21	0.72293	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.317639	0.33670	N	0.004669	T	0.81098	0.4752	M	0.75777	2.31	0.58432	D	0.999999	P;B	0.41188	0.741;0.451	P;P	0.45998	0.5;0.5	T	0.81376	-0.0961	10	0.44086	T	0.13	-11.7262	13.4391	0.61101	0.0:0.9248:0.0:0.0752	.	524;516	E7ETK8;P49588	.;SYAC_HUMAN	L	516	ENSP00000261772:V516L	ENSP00000261772:V516L	V	-	1	0	AARS	68853875	0.982000	0.34865	0.989000	0.46669	0.996000	0.88848	2.145000	0.42207	1.617000	0.50277	0.643000	0.83706	GTG	AARS	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	ENSG00000090861		0.532	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	91	0.00	0	C	NM_001605		70296374	70296374	-1	no_errors	ENST00000261772	ensembl	human	known	69_37n	missense	101	16.53	20	SNP	0.999	A
ADAM33	80332	genome.wustl.edu	37	20	3649962	3649962	+	Silent	SNP	G	G	C			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr20:3649962G>C	ENST00000356518.2	-	21	2629	c.2388C>G	c.(2386-2388)gtC>gtG	p.V796V	ADAM33_ENST00000350009.2_Silent_p.V770V|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Silent_p.V796V	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	796					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGTCAGGCGAGACTGCTGGCA	0.592																																						dbGAP											0													42.0	47.0	45.0					20																	3649962		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.2388C>G	20.37:g.3649962G>C			A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V796	ENST00000356518.2	37	c.2388	CCDS13058.1	20																																																																																			ADAM33	-	NULL	ENSG00000149451		0.592	ADAM33-001	KNOWN	basic|CCDS	protein_coding	ADAM33	HGNC	protein_coding	OTTHUMT00000077763.2	143	0.00	0	G	NM_025220		3649962	3649962	-1	no_errors	ENST00000356518	ensembl	human	known	69_37n	silent	135	11.76	18	SNP	0.009	C
AKR1C3	8644	genome.wustl.edu	37	10	5141532	5141532	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr10:5141532G>T	ENST00000380554.3	+	5	1113	c.461G>T	c.(460-462)tGt>tTt	p.C154F	AKR1C3_ENST00000439082.2_Missense_Mutation_p.C35F|AKR1C3_ENST00000605149.1_Missense_Mutation_p.C131F	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	154					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ATGGAGAAGTGTAAGGATGCA	0.493																																						dbGAP											0													127.0	114.0	118.0					10																	5141532		2203	4300	6503	-	-	-	SO:0001583	missense	0			L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.461G>T	10.37:g.5141532G>T	ENSP00000369927:p.Cys154Phe		A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.C154F	ENST00000380554.3	37	c.461	CCDS7063.1	10	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736489	0.30774	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.23552	1.9;1.9	2.67	2.67	0.31697	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.170003	0.42053	D	0.000762	T	0.36799	0.0980	L	0.42686	1.345	0.45867	D	0.998728	D;D;D	0.89917	0.977;1.0;1.0	P;D;D	0.81914	0.757;0.995;0.995	T	0.12344	-1.0551	10	0.72032	D	0.01	.	7.0684	0.25165	0.0:0.0:0.7305:0.2695	.	35;154;154	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	F	35;154	ENSP00000401327:C35F;ENSP00000369927:C154F	ENSP00000369927:C154F	C	+	2	0	AKR1C3	5131532	1.000000	0.71417	0.976000	0.42696	0.490000	0.33462	5.006000	0.63978	1.202000	0.43218	0.491000	0.48974	TGT	AKR1C3	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000196139		0.493	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C3	HGNC	protein_coding	OTTHUMT00000046533.2	226	0.00	0	G	NM_003739		5141532	5141532	+1	no_errors	ENST00000380554	ensembl	human	known	69_37n	missense	175	21.88	49	SNP	0.999	T
ARHGAP29	9411	genome.wustl.edu	37	1	94639535	94639535	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr1:94639535C>A	ENST00000260526.6	-	23	3858	c.3676G>T	c.(3676-3678)Gac>Tac	p.D1226Y	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1226					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCCTCAGAGTCTTCTTTAGGT	0.498																																						dbGAP											0													102.0	97.0	98.0					1																	94639535		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3676G>T	1.37:g.94639535C>A	ENSP00000260526:p.Asp1226Tyr		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.D1226Y	ENST00000260526.6	37	c.3676	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914201	0.33815	.	.	ENSG00000137962	ENST00000260526	T	0.22336	1.96	5.49	-1.69	0.08186	.	0.925315	0.08967	N	0.867850	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.45175	-0.9279	10	0.62326	D	0.03	-0.0646	6.2785	0.20993	0.0:0.2496:0.2135:0.5368	.	1226	Q52LW3	RHG29_HUMAN	Y	1226	ENSP00000260526:D1226Y	ENSP00000260526:D1226Y	D	-	1	0	ARHGAP29	94412123	0.003000	0.15002	0.000000	0.03702	0.298000	0.27526	1.405000	0.34635	-0.191000	0.10448	-0.423000	0.05987	GAC	ARHGAP29	-	NULL	ENSG00000137962		0.498	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	102	0.97	1	C	NM_004815		94639535	94639535	-1	no_errors	ENST00000260526	ensembl	human	known	69_37n	missense	84	13.40	13	SNP	0.002	A
AMPD1	270	genome.wustl.edu	37	1	115236070	115236070	+	Splice_Site	SNP	T	T	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr1:115236070T>A	ENST00000520113.2	-	2	137		c.e2-2		AMPD1_ENST00000369538.3_Intron|AMPD1_ENST00000353928.6_Splice_Site			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1						IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCTCTTCAGCTGTATGAAGTA	0.323																																						dbGAP											0													80.0	86.0	84.0					1																	115236070		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.122-2A>T	1.37:g.115236070T>A			A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Splice_Site	SNP	-	e2-2	ENST00000520113.2	37	c.122-2	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801702	0.70682	.	.	ENSG00000116748	ENST00000520113;ENST00000353928	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0541	0.58969	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMPD1	115037593	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	4.747000	0.62141	1.956000	0.56807	0.528000	0.53228	.	AMPD1	-	-	ENSG00000116748		0.323	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	161	0.62	1	T		Intron	115236070	115236070	-1	no_errors	ENST00000520113	ensembl	human	known	69_37n	splice_site	104	11.11	13	SNP	1.000	A
ASH1L	55870	genome.wustl.edu	37	1	155313175	155313175	+	Silent	SNP	G	G	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr1:155313175G>A	ENST00000368346.3	-	24	8877	c.8238C>T	c.(8236-8238)ctC>ctT	p.L2746L	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Silent_p.L2741L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2746	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATCTCATAGAGTGGCACCC	0.463																																						dbGAP											0													125.0	120.0	122.0					1																	155313175		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8238C>T	1.37:g.155313175G>A			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.L2746	ENST00000368346.3	37	c.8238		1																																																																																			ASH1L	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000116539		0.463	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	188	0.00	0	G	NM_018489		155313175	155313175	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	silent	233	13.33	36	SNP	0.818	A
ASIC5	51802	genome.wustl.edu	37	4	156764876	156764876	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr4:156764876G>A	ENST00000537611.2	-	5	864	c.818C>T	c.(817-819)tCa>tTa	p.S273L		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	273					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TCCCACAGGTGACAACAAGCC	0.463																																						dbGAP											0													169.0	138.0	148.0					4																	156764876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.818C>T	4.37:g.156764876G>A	ENSP00000442477:p.Ser273Leu			Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.S273L	ENST00000537611.2	37	c.818	CCDS3793.1	4	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977557	0.18812	.	.	ENSG00000256394	ENST00000537611	T	0.61274	0.12	4.4	4.4	0.53042	.	0.606157	0.14335	N	0.326105	T	0.45276	0.1334	L	0.31157	0.91	0.20074	N	0.999932	B	0.02656	0.0	B	0.12156	0.007	T	0.18023	-1.0350	10	0.21540	T	0.41	-30.4657	13.5868	0.61935	0.0:0.1564:0.8435:0.0	.	273	Q9NY37	ACCN5_HUMAN	L	273	ENSP00000442477:S273L	ENSP00000264432:S273L	S	-	2	0	ACCN5	156984326	0.958000	0.32768	0.117000	0.21633	0.621000	0.37620	3.993000	0.56987	2.390000	0.81377	0.591000	0.81541	TCA	ASIC5	-	pfam_Na+channel_ASC	ENSG00000256394		0.463	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	HGNC	protein_coding	OTTHUMT00000366464.1	86	0.00	0	G			156764876	156764876	-1	no_errors	ENST00000537611	ensembl	human	known	69_37n	missense	67	12.99	10	SNP	0.267	A
C8orf31	286122	genome.wustl.edu	37	8	144126108	144126108	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr8:144126108G>C	ENST00000395172.1	+	4	581	c.229G>C	c.(229-231)Gac>Cac	p.D77H	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	77										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACTGCCAAAGACGCTCACTT	0.612																																						dbGAP											0													77.0	67.0	71.0					8																	144126108		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.229G>C	8.37:g.144126108G>C	ENSP00000378601:p.Asp77His		Q6GMU7	Missense_Mutation	SNP	NULL	p.D77H	ENST00000395172.1	37	c.229	CCDS6395.1	8	.	.	.	.	.	.	.	.	.	.	g	1.872	-0.460014	0.04508	.	.	ENSG00000177335	ENST00000395172	T	0.57436	0.4	1.63	-1.82	0.07857	.	.	.	.	.	T	0.25344	0.0616	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	B	0.41466	0.358	T	0.18023	-1.0350	9	0.87932	D	0	.	1.9236	0.03313	0.409:0.0:0.324:0.267	.	77	Q8N9H6	CH031_HUMAN	H	77	ENSP00000378601:D77H	ENSP00000378601:D77H	D	+	1	0	C8orf31	144197483	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.209000	0.17435	-0.547000	0.06207	0.437000	0.28790	GAC	C8orf31	-	NULL	ENSG00000177335		0.612	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf31	HGNC	protein_coding	OTTHUMT00000380167.1	33	0.00	0	G	NM_173687		144126108	144126108	+1	no_errors	ENST00000395172	ensembl	human	known	69_37n	missense	72	13.25	11	SNP	0.000	C
CACNA1B	774	genome.wustl.edu	37	9	140970313	140970313	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr9:140970313C>T	ENST00000371372.1	+	35	5045	c.4900C>T	c.(4900-4902)Cgc>Tgc	p.R1634C	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1633C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R828C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1634C|CACNA1B_ENST00000371365.2_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1632C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1635C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1634					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGCATCAACCGCCACAACAA	0.582																																						dbGAP											0													59.0	64.0	63.0					9																	140970313		1992	4177	6169	-	-	-	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4900C>T	9.37:g.140970313C>T	ENSP00000360423:p.Arg1634Cys		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R1635C	ENST00000371372.1	37	c.4903	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380145	0.82682	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39	5.23	3.27	0.37495	.	0.132915	0.51477	D	0.000093	D	0.98676	0.9556	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.978	D	0.99204	1.0874	10	0.87932	D	0	.	13.9763	0.64275	0.3231:0.6769:0.0:0.0	.	1633;1632	B1AQK7;B1AQK6	.;.	C	1634;1634;828;1632;1633;1635	ENSP00000360423:R1634C;ENSP00000277551:R1634C;ENSP00000277549:R828C;ENSP00000360414:R1632C;ENSP00000360408:R1633C;ENSP00000360406:R1635C	ENSP00000277549:R828C	R	+	1	0	CACNA1B	140090134	0.872000	0.30054	0.998000	0.56505	0.767000	0.43475	1.223000	0.32527	0.586000	0.29626	0.655000	0.94253	CGC	CACNA1B	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000148408		0.582	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	116	0.85	1	C	NM_000718		140970313	140970313	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	1.000	T
CDCA2	157313	genome.wustl.edu	37	8	25365051	25365051	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr8:25365051C>G	ENST00000330560.3	+	15	3346	c.2869C>G	c.(2869-2871)Cca>Gca	p.P957A	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.P942A	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	957					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CGTCTCAGATCCAGAAAACAG	0.453																																						dbGAP											0													172.0	193.0	186.0					8																	25365051		2203	4300	6503	-	-	-	SO:0001583	missense	0			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2869C>G	8.37:g.25365051C>G	ENSP00000328228:p.Pro957Ala		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	NULL	p.P957A	ENST00000330560.3	37	c.2869	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	C	8.662	0.900694	0.17686	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.28069	1.63;1.63	5.62	-2.42	0.06542	.	1.736360	0.02321	N	0.072948	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.10268	-1.0637	10	0.16896	T	0.51	0.0559	2.7865	0.05375	0.3959:0.3608:0.1336:0.1097	.	942;957	E9PEI0;Q69YH5	.;CDCA2_HUMAN	A	957;942;356	ENSP00000328228:P957A;ENSP00000370040:P942A	ENSP00000328228:P957A	P	+	1	0	CDCA2	25420968	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.459000	0.06728	-0.415000	0.07484	-0.262000	0.10625	CCA	CDCA2	-	NULL	ENSG00000184661		0.453	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	116	0.00	0	C	NM_152562		25365051	25365051	+1	no_errors	ENST00000330560	ensembl	human	known	69_37n	missense	59	13.24	9	SNP	0.000	G
CDKL5	6792	genome.wustl.edu	37	X	18631363	18631363	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chrX:18631363C>A	ENST00000379989.3	+	16	2529	c.2244C>A	c.(2242-2244)aaC>aaA	p.N748K	CDKL5_ENST00000379996.3_Missense_Mutation_p.N748K|CDKL5_ENST00000463994.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	748				Missing (in Ref. 5; CAA61445). {ECO:0000305}.	neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTGGAACCAACCACTCAAAAA	0.358																																						dbGAP											0													133.0	128.0	130.0					X																	18631363		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2244C>A	X.37:g.18631363C>A	ENSP00000369325:p.Asn748Lys		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.N748K	ENST00000379989.3	37	c.2244	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507380	0.44558	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.73047	-0.71;-0.71	5.03	2.04	0.26737	.	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	L	0.32530	0.975	0.29914	N	0.823271	D	0.58268	0.982	B	0.43360	0.417	T	0.59123	-0.7513	10	0.87932	D	0	-24.0575	7.4677	0.27330	0.0:0.6046:0.0:0.3954	.	748	O76039	CDKL5_HUMAN	K	748	ENSP00000369332:N748K;ENSP00000369325:N748K	ENSP00000369325:N748K	N	+	3	2	CDKL5	18541284	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	1.593000	0.36686	0.049000	0.15920	0.499000	0.49734	AAC	CDKL5	-	NULL	ENSG00000008086		0.358	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	246	0.00	0	C	NM_003159		18631363	18631363	+1	no_errors	ENST00000379989	ensembl	human	known	69_37n	missense	155	15.30	28	SNP	1.000	A
CENPE	1062	genome.wustl.edu	37	4	104098112	104098112	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr4:104098112T>G	ENST00000265148.3	-	14	1423	c.1334A>C	c.(1333-1335)aAt>aCt	p.N445T	CENPE_ENST00000380026.3_Missense_Mutation_p.N445T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	445					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)	p.N445S(1)		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)		TGTTGTTATATTTGTTGGTAT	0.284																																						dbGAP											1	Substitution - Missense(1)	NS(1)											91.0	88.0	89.0					4																	104098112		2201	4283	6484	-	-	-	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.1334A>C	4.37:g.104098112T>G	ENSP00000265148:p.Asn445Thr		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.N445T	ENST00000265148.3	37	c.1334	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	T	0.312	-0.966992	0.02232	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.55052	0.54;0.54;0.54	5.19	-4.22	0.03800	.	.	.	.	.	T	0.30603	0.0770	N	0.17474	0.49	0.09310	N	1	B;B	0.15473	0.001;0.013	B;B	0.06405	0.002;0.002	T	0.22695	-1.0209	9	0.38643	T	0.18	.	8.2604	0.31781	0.0:0.3064:0.4402:0.2534	.	445;445	Q02224-3;Q02224	.;CENPE_HUMAN	T	445	ENSP00000265148:N445T;ENSP00000369365:N445T;ENSP00000423981:N445T	ENSP00000265148:N445T	N	-	2	0	CENPE	104317561	0.001000	0.12720	0.001000	0.08648	0.037000	0.13140	0.114000	0.15520	-0.286000	0.09076	-0.331000	0.08364	AAT	CENPE	-	NULL	ENSG00000138778		0.284	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		463	0.00	0	T			104098112	104098112	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	266	18.90	62	SNP	0.000	G
CHD9	80205	genome.wustl.edu	37	16	53338403	53338403	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr16:53338403G>C	ENST00000398510.3	+	30	6572	c.6485G>C	c.(6484-6486)gGc>gCc	p.G2162A	CHD9_ENST00000566029.1_Missense_Mutation_p.G2162A|CHD9_ENST00000564845.1_Missense_Mutation_p.G2162A|CHD9_ENST00000447540.1_Missense_Mutation_p.G2162A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2162	Ser-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTCGATCAGGCTCTAGttct	0.438																																						dbGAP											0													137.0	130.0	132.0					16																	53338403		2103	4221	6324	-	-	-	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6485G>C	16.37:g.53338403G>C	ENSP00000381522:p.Gly2162Ala		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G2162A	ENST00000398510.3	37	c.6485		16	.	.	.	.	.	.	.	.	.	.	G	8.878	0.951004	0.18431	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86297	-2.0;-2.1	6.07	5.12	0.69794	.	0.000000	0.64402	D	0.000012	T	0.76905	0.4053	N	0.14661	0.345	0.49483	D	0.999797	B;P;P;P	0.45531	0.244;0.86;0.78;0.86	B;B;B;B	0.41271	0.125;0.352;0.192;0.352	T	0.75210	-0.3398	10	0.13470	T	0.59	-0.764	15.2986	0.73928	0.0667:0.0:0.9333:0.0	.	2162;2162;2162;2162	B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	A	2162	ENSP00000396345:G2162A;ENSP00000381522:G2162A	ENSP00000381522:G2162A	G	+	2	0	CHD9	51895904	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.205000	0.77881	1.589000	0.49982	0.650000	0.86243	GGC	CHD9	-	NULL	ENSG00000177200		0.438	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	446	0.00	0	G	NM_025134		53338403	53338403	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	missense	292	12.57	42	SNP	1.000	C
COL6A5	256076	genome.wustl.edu	37	3	130098667	130098667	+	Silent	SNP	G	G	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr3:130098667G>A	ENST00000432398.2	+	4	1568	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	COL6A5_ENST00000265379.6_Silent_p.A358A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	358	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATGATGCTGCGCTGAACCTTC	0.488																																						dbGAP											0													138.0	115.0	122.0					3																	130098667		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.1074G>A	3.37:g.130098667G>A			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A358	ENST00000432398.2	37	c.1074		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.488	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		91	0.00	0	G	NM_153264		130098667	130098667	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	silent	49	20.97	13	SNP	0.000	A
DCHS2	54798	genome.wustl.edu	37	4	155287566	155287566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr4:155287566delG	ENST00000357232.4	-	5	489	c.490delC	c.(490-492)cgtfs	p.R164fs	DCHS2_ENST00000339452.1_Frame_Shift_Del_p.R758fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	164	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGTCCACACGAACAAAGGCT	0.473																																						dbGAP											0													90.0	75.0	80.0					4																	155287566		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.490delC	4.37:g.155287566delG	ENSP00000349768:p.Arg164fs		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R164fs	ENST00000357232.4	37	c.490	CCDS3785.1	4																																																																																			DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.473	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	92	0.00	0	G	NM_001142552		155287566	155287566	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	frame_shift_del	103	17.05	22	DEL	1.000	-
ERI2	112479	genome.wustl.edu	37	16	20812611	20812611	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr16:20812611T>A	ENST00000357967.4	-	5	416	c.374A>T	c.(373-375)cAg>cTg	p.Q125L	ERI2_ENST00000564349.1_Missense_Mutation_p.Q32L|ERI2_ENST00000300005.3_Missense_Mutation_p.Q125L|ERI2_ENST00000569729.1_Missense_Mutation_p.Q125L|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000563117.1_Missense_Mutation_p.Q32L	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	125	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CTTCTGTTGCTGAATCTTATG	0.368																																						dbGAP											0													87.0	93.0	91.0					16																	20812611		2201	4300	6501	-	-	-	SO:0001583	missense	0			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.374A>T	16.37:g.20812611T>A	ENSP00000350651:p.Gln125Leu		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease	p.Q125L	ENST00000357967.4	37	c.374	CCDS45436.1	16	.	.	.	.	.	.	.	.	.	.	T	10.33	1.321481	0.23994	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	T	0.20463	2.07	5.77	4.65	0.58169	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.108205	0.64402	D	0.000005	T	0.27169	0.0666	N	0.20328	0.56	0.80722	D	1	D;D;D	0.89917	1.0;0.962;0.962	D;P;P	0.77557	0.99;0.715;0.734	T	0.03717	-1.1010	10	0.11182	T	0.66	-4.5401	13.2104	0.59821	0.0:0.0:0.1329:0.8671	.	125;125;125	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	L	125	ENSP00000350651:Q125L	ENSP00000300005:Q125L	Q	-	2	0	ERI2	20720112	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.300000	0.43620	1.075000	0.40932	0.528000	0.53228	CAG	ERI2	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000196678		0.368	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI2	HGNC	protein_coding		120	0.00	0	T	NM_080663		20812611	20812611	-1	no_errors	ENST00000357967	ensembl	human	known	69_37n	missense	59	16.90	12	SNP	1.000	A
ERN2	10595	genome.wustl.edu	37	16	23711935	23711935	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr16:23711935A>T	ENST00000457008.2	-	12	1332	c.1294T>A	c.(1294-1296)Tcg>Acg	p.S432T	ERN2_ENST00000256797.4_Missense_Mutation_p.S532T					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGCCCCCGAGTGCAGGGAC	0.617																																						dbGAP											0													69.0	70.0	70.0					16																	23711935		2197	4300	6497	-	-	-	SO:0001583	missense	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1294T>A	16.37:g.23711935A>T	ENSP00000413812:p.Ser432Thr			Missense_Mutation	SNP	pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.S532T	ENST00000457008.2	37	c.1594		16	.	.	.	.	.	.	.	.	.	.	A	5.982	0.365165	0.11296	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.60171	0.21;0.26	3.9	2.8	0.32819	.	0.753768	0.12351	N	0.476564	T	0.33644	0.0870	N	0.17082	0.46	0.09310	N	1	B;B	0.29716	0.18;0.255	B;B	0.24155	0.051;0.034	T	0.15464	-1.0436	10	0.14252	T	0.57	.	6.1895	0.20516	0.8852:0.0:0.1148:0.0	.	432;484	E7ETG2;A5YM65	.;.	T	532;432	ENSP00000256797:S532T;ENSP00000413812:S432T	ENSP00000256797:S532T	S	-	1	0	ERN2	23619436	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.942000	0.29017	0.840000	0.34995	0.459000	0.35465	TCG	ERN2	-	NULL	ENSG00000134398		0.617	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1	79	0.00	0	A			23711935	23711935	-1	no_errors	ENST00000256797	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.002	T
HLA-A	3105	genome.wustl.edu	37	6	29912153	29912153	+	Missense_Mutation	SNP	A	A	G	rs1136835		TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr6:29912153A>G	ENST00000396634.1	+	6	1215	c.874A>G	c.(874-876)Aag>Gag	p.K292E	HLA-A_ENST00000376802.2_Missense_Mutation_p.K292E|HLA-A_ENST00000376809.5_Missense_Mutation_p.K292E|HLA-A_ENST00000376806.5_Missense_Mutation_p.K292E			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	292	Alpha-3.|Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GGGTCTGCCCAAGCCCCTCAC	0.607									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												dbGAP											0													71.0	62.0	65.0					6																	29912153		1511	2709	4220	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.874A>G	6.37:g.29912153A>G	ENSP00000379873:p.Lys292Glu		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.K292E	ENST00000396634.1	37	c.874	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	2.834	-0.241918	0.05906	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	3.69	0.608	0.17569	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.380247	0.18675	N	0.134330	T	0.00784	0.0026	N	0.00656	-1.285	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.10450	0.001;0.003;0.004;0.005;0.004;0.005;0.005	T	0.45789	-0.9237	10	0.15499	T	0.54	.	3.6915	0.08347	0.2412:0.206:0.5528:0.0	rs1136835;rs12721764;rs41562319	171;292;292;292;292;292;292	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	E	292;292;80;292;292	ENSP00000379873:K292E;ENSP00000366002:K292E;ENSP00000366005:K292E;ENSP00000365998:K292E	ENSP00000365998:K292E	K	+	1	0	HLA-A	30020132	0.000000	0.05858	0.375000	0.26029	0.320000	0.28249	-1.576000	0.02129	0.363000	0.24346	-0.388000	0.06559	AAG	HLA-A	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000206503		0.607	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	32	0.00	0	A	NM_002116		29912153	29912153	+1	no_errors	ENST00000376806	ensembl	human	known	69_37n	missense	53	13.11	8	SNP	0.213	G
HPS3	84343	genome.wustl.edu	37	3	148875176	148875176	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr3:148875176A>C	ENST00000296051.2	+	9	1689	c.1549A>C	c.(1549-1551)Agc>Cgc	p.S517R	HPS3_ENST00000460120.1_Missense_Mutation_p.S352R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	517					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAAAACCCAGAGCTGCATTCA	0.458									Hermansky-Pudlak syndrome																													dbGAP											0													109.0	96.0	100.0					3																	148875176		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1549A>C	3.37:g.148875176A>C	ENSP00000296051:p.Ser517Arg		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps3_subunit	p.S517R	ENST00000296051.2	37	c.1549	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966843	0.74131	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.68025	-0.3;-0.3	5.68	4.53	0.55603	.	0.083841	0.85682	D	0.000000	T	0.70806	0.3266	M	0.64997	1.995	0.45056	D	0.998073	D;D	0.56287	0.975;0.975	P;P	0.53102	0.718;0.718	T	0.72200	-0.4362	10	0.72032	D	0.01	-8.1821	8.8214	0.35027	0.856:0.0:0.144:0.0	.	352;517	G5E9V4;Q969F9	.;HPS3_HUMAN	R	517;352	ENSP00000296051:S517R;ENSP00000418230:S352R	ENSP00000296051:S517R	S	+	1	0	HPS3	150357866	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.093000	0.64517	1.005000	0.39183	0.533000	0.62120	AGC	HPS3	-	pirsf_BLOC-2_complex_Hps3_subunit	ENSG00000163755		0.458	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	163	0.00	0	A	NM_032383		148875176	148875176	+1	no_errors	ENST00000296051	ensembl	human	known	69_37n	missense	121	11.68	16	SNP	1.000	C
HSPA2	3306	genome.wustl.edu	37	14	65007625	65007625	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr14:65007625G>T	ENST00000394709.1	+	2	134	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W	HSPA2_ENST00000554883.1_3'UTR|RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.G20W			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	20					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TTCGTGCGTCGGGGTCTTCCA	0.627											OREG0022731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(136;1211 1835 24894 31984 38227)	dbGAP											0													107.0	85.0	93.0					14																	65007625		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.58G>T	14.37:g.65007625G>T	ENSP00000378199:p.Gly20Trp	1080	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G20W	ENST00000394709.1	37	c.58	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848725	0.71603	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01178	5.22;5.22	5.38	5.38	0.77491	.	0.000000	0.56097	U	0.000033	T	0.16085	0.0387	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33752	-0.9856	10	0.87932	D	0	-11.901	19.1255	0.93382	0.0:0.0:1.0:0.0	.	20	P54652	HSP72_HUMAN	W	20	ENSP00000378199:G20W;ENSP00000247207:G20W	ENSP00000247207:G20W	G	+	1	0	HSPA2	64077378	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.828000	0.99408	2.513000	0.84729	0.557000	0.71058	GGG	HSPA2	-	pfam_Hsp_70_fam	ENSG00000126803		0.627	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	38	0.00	0	G			65007625	65007625	+1	no_errors	ENST00000247207	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	T
LIPG	9388	genome.wustl.edu	37	18	47093896	47093896	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr18:47093896G>C	ENST00000261292.4	+	3	642	c.364G>C	c.(364-366)Gac>Cac	p.D122H	LIPG_ENST00000427224.2_Missense_Mutation_p.D122H|LIPG_ENST00000577628.1_Missense_Mutation_p.D158H|LIPG_ENST00000580036.1_Missense_Mutation_p.D122H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	122					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						AGTTGTGGTTGACTGGCTCCC	0.537																																					Pancreas(126;280 1778 12814 26243 34948)	dbGAP											0													94.0	79.0	84.0					18																	47093896		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.364G>C	18.37:g.47093896G>C	ENSP00000261292:p.Asp122His		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep,pfscan_LipOase_LH2	p.D122H	ENST00000261292.4	37	c.364	CCDS11938.1	18	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533746	0.64972	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.95447	-3.71;-3.71	5.13	3.35	0.38373	Lipase, N-terminal (1);	0.042344	0.85682	D	0.000000	D	0.98071	0.9364	H	0.95745	3.715	0.80722	D	1	D;D;D	0.76494	0.981;0.993;0.999	D;D;D	0.69307	0.938;0.963;0.96	D	0.97914	1.0310	10	0.87932	D	0	-28.844	11.4991	0.50426	0.146:0.0:0.854:0.0	.	122;122;122	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	H	122	ENSP00000261292:D122H;ENSP00000387978:D122H	ENSP00000261292:D122H	D	+	1	0	LIPG	45347894	1.000000	0.71417	0.908000	0.35775	0.591000	0.36615	5.696000	0.68287	0.568000	0.29311	-0.254000	0.11334	GAC	LIPG	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	ENSG00000101670		0.537	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPG	HGNC	protein_coding	OTTHUMT00000447546.1	94	0.00	0	G	NM_006033		47093896	47093896	+1	no_errors	ENST00000261292	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	1.000	C
NCR1	9437	genome.wustl.edu	37	19	55417945	55417945	+	Silent	SNP	G	G	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr19:55417945G>A	ENST00000291890.4	+	3	173	c.135G>A	c.(133-135)gtG>gtA	p.V45V	NCR1_ENST00000598576.1_Silent_p.V33V|NCR1_ENST00000594765.1_Silent_p.V45V|NCR1_ENST00000338835.5_Silent_p.V45V|NCR1_ENST00000447255.1_Silent_p.V45V|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000357397.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	45	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AAAAGCAAGTGACCATCTGTT	0.522																																						dbGAP											0													66.0	69.0	68.0					19																	55417945		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.135G>A	19.37:g.55417945G>A			B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	smart_Ig_sub	p.V45	ENST00000291890.4	37	c.135	CCDS12911.1	19																																																																																			NCR1	-	smart_Ig_sub	ENSG00000189430		0.522	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1	76	0.00	0	G			55417945	55417945	+1	no_errors	ENST00000291890	ensembl	human	known	69_37n	silent	59	13.24	9	SNP	0.000	A
PIGQ	9091	genome.wustl.edu	37	16	625917	625917	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr16:625917C>A	ENST00000026218.5	+	3	856	c.768C>A	c.(766-768)caC>caA	p.H256Q	PIGQ_ENST00000321878.5_Missense_Mutation_p.H256Q|PIGQ_ENST00000470411.2_Missense_Mutation_p.H256Q|PIGQ_ENST00000409527.2_Missense_Mutation_p.H256Q	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	256	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GGCTGGAGCACCTCACGCTAA	0.637																																						dbGAP											0													70.0	62.0	65.0					16																	625917		2191	4294	6485	-	-	-	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.768C>A	16.37:g.625917C>A	ENSP00000026218:p.His256Gln		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.H256Q	ENST00000026218.5	37	c.768	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	C	8.011	0.757487	0.15846	.	.	ENSG00000007541	ENST00000409527;ENST00000422307;ENST00000321878;ENST00000026218;ENST00000470411	T;T;T;T;T	0.48201	0.87;0.84;0.87;2.15;0.82	5.18	0.179	0.15063	.	0.151805	0.64402	N	0.000017	T	0.20129	0.0484	N	0.05351	-0.065	0.41736	D	0.989589	B;B;B;B	0.20671	0.031;0.047;0.006;0.018	B;B;B;B	0.18263	0.006;0.021;0.006;0.016	T	0.02975	-1.1087	10	0.37606	T	0.19	-11.1071	2.6145	0.04900	0.2263:0.4738:0.1466:0.1533	.	270;256;256;256	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	Q	256	ENSP00000386760:H256Q;ENSP00000413753:H256Q;ENSP00000326674:H256Q;ENSP00000026218:H256Q;ENSP00000439650:H256Q	ENSP00000026218:H256Q	H	+	3	2	PIGQ	565918	0.997000	0.39634	0.970000	0.41538	0.051000	0.14879	0.497000	0.22514	0.166000	0.19597	-0.189000	0.12847	CAC	PIGQ	-	NULL	ENSG00000007541		0.637	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	45	0.00	0	C	NM_004204		625917	625917	+1	no_errors	ENST00000026218	ensembl	human	known	69_37n	missense	52	14.75	9	SNP	0.998	A
PIK3C2B	5287	genome.wustl.edu	37	1	204408104	204408104	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr1:204408104A>G	ENST00000367187.3	-	24	4031	c.3475T>C	c.(3475-3477)Tgg>Cgg	p.W1159R	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.W1131R	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1159	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTCTGCAGCCAGTCTGCCAGG	0.602																																						dbGAP											0													111.0	80.0	91.0					1																	204408104		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3475T>C	1.37:g.204408104A>G	ENSP00000356155:p.Trp1159Arg		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.W1159R	ENST00000367187.3	37	c.3475	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794887	0.90453	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.81996	-1.56;-1.56	5.5	5.5	0.81552	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.184820	0.51477	D	0.000093	D	0.93703	0.7988	H	0.95574	3.69	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95438	0.8523	10	0.87932	D	0	.	15.2635	0.73643	1.0:0.0:0.0:0.0	.	1131;1159	F5GWN5;O00750	.;P3C2B_HUMAN	R	1159;1131	ENSP00000356155:W1159R;ENSP00000400561:W1131R	ENSP00000356155:W1159R	W	-	1	0	PIK3C2B	202674727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.087000	0.62958	0.460000	0.39030	TGG	PIK3C2B	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000133056		0.602	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	80	0.00	0	A	NM_002646		204408104	204408104	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	1.000	G
RAB1A	5861	genome.wustl.edu	37	2	65315732	65315732	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr2:65315732C>G	ENST00000409784.3	-	6	703	c.513G>C	c.(511-513)gaG>gaC	p.E171D	RAB1A_ENST00000409892.1_Missense_Mutation_p.E107D|RAB1A_ENST00000356214.7_Missense_Mutation_p.E139D|RAB1A_ENST00000398529.3_Missense_Mutation_p.E95D|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000260638.8_Missense_Mutation_p.E95D|RAB1A_ENST00000409751.1_Missense_Mutation_p.E139D	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	171					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						GCTTTTTAATCTCAGCTGCCA	0.458																																						dbGAP											0													63.0	58.0	60.0					2																	65315732		1949	4146	6095	-	-	-	SO:0001583	missense	0			M28209	CCDS46305.1, CCDS46306.1	2p14	2008-02-05		2002-03-17	ENSG00000138069	ENSG00000138069		"""RAB, member RAS oncogene"""	9758	protein-coding gene	gene with protein product	"""Rab GTPase YPT1 homolog (yeast)"""	179508		RAB1		2501306	Standard	NM_004161		Approved	YPT1	uc002sdm.3	P62820	OTTHUMG00000152725	ENST00000409784.3:c.513G>C	2.37:g.65315732C>G	ENSP00000387286:p.Glu171Asp		P11476|Q6FIE7|Q96N61|Q9Y3T2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E171D	ENST00000409784.3	37	c.513	CCDS46306.1	2	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209881	0.39003	.	.	ENSG00000138069	ENST00000409784;ENST00000409892;ENST00000409751;ENST00000398529;ENST00000260638;ENST00000356214	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	N	0.03238	-0.38	0.46149	D	0.99889	B;B;P;B	0.49696	0.002;0.008;0.927;0.0	B;B;D;B	0.67725	0.03;0.031;0.953;0.002	T	0.78819	-0.2054	10	0.33141	T	0.24	.	19.6466	0.95778	0.0:1.0:0.0:0.0	.	139;107;95;171	B7Z8M7;P62820-2;P62820-3;P62820	.;.;.;RAB1A_HUMAN	D	171;107;139;95;95;139	ENSP00000387286:E171D;ENSP00000386451:E107D;ENSP00000386672:E139D;ENSP00000381540:E95D;ENSP00000260638:E95D;ENSP00000348546:E139D	ENSP00000260638:E95D	E	-	3	2	RAB1A	65169236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.524000	0.45589	2.690000	0.91761	0.557000	0.71058	GAG	RAB1A	-	pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase	ENSG00000138069		0.458	RAB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB1A	HGNC	protein_coding	OTTHUMT00000327572.1	153	0.00	0	C	NM_004161		65315732	65315732	-1	no_errors	ENST00000409784	ensembl	human	known	69_37n	missense	81	19.80	20	SNP	1.000	G
RBM12B	389677	genome.wustl.edu	37	8	94748065	94748065	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr8:94748065G>A	ENST00000399300.2	-	3	787	c.574C>T	c.(574-576)Cga>Tga	p.R192*	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Nonsense_Mutation_p.R192*|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	192	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCATTATTTCGGCCATCATGA	0.363																																						dbGAP											0													136.0	126.0	129.0					8																	94748065		1915	4145	6060	-	-	-	SO:0001587	stop_gained	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.574C>T	8.37:g.94748065G>A	ENSP00000382239:p.Arg192*		A8MYB5	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R192*	ENST00000399300.2	37	c.574	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560366	0.86335	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	.	.	.	5.35	5.35	0.76521	.	0.000000	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5373	8.4513	0.32873	0.0801:0.2791:0.6408:0.0	.	.	.	.	X	192	.	ENSP00000382239:R192X	R	-	1	2	RBM12B	94817241	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.591000	0.36665	2.667000	0.90743	0.585000	0.79938	CGA	RBM12B	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000183808		0.363	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	162	0.00	0	G	NM_203390		94748065	94748065	-1	no_errors	ENST00000399300	ensembl	human	known	69_37n	nonsense	124	12.06	17	SNP	0.998	A
RCAN3	11123	genome.wustl.edu	37	1	24859683	24859683	+	Silent	SNP	C	C	T			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr1:24859683C>T	ENST00000374395.4	+	4	793	c.480C>T	c.(478-480)agC>agT	p.S160S	RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Silent_p.S150S|RCAN3_ENST00000538532.1_Silent_p.S102S	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	160					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GGAAGCAGAGCGAAGATGCGA	0.507																																						dbGAP											0													81.0	82.0	82.0					1																	24859683		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.480C>T	1.37:g.24859683C>T			A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	pfam_Calcipressin	p.A27V	ENST00000374395.4	37	c.80	CCDS254.1	1																																																																																			RCAN3	-	pfam_Calcipressin	ENSG00000117602		0.507	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	HGNC	protein_coding	OTTHUMT00000009176.2	139	0.00	0	C			24859683	24859683	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000482807	ensembl	human	known	69_37n	missense	117	12.69	17	SNP	0.082	T
RGS20	8601	genome.wustl.edu	37	8	54791869	54791869	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr8:54791869G>A	ENST00000297313.3	+	2	309	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	RGS20_ENST00000276500.4_5'Flank|RGS20_ENST00000344277.6_Intron|RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000522225.1_5'Flank	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	73					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAAGCTGTTCGGCCTCCTTTC	0.647																																						dbGAP											0													97.0	121.0	113.0					8																	54791869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.217G>A	8.37:g.54791869G>A	ENSP00000297313:p.Gly73Ser		Q96BG9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.G73S	ENST00000297313.3	37	c.217	CCDS6155.1	8	.	.	.	.	.	.	.	.	.	.	G	3.005	-0.205183	0.06180	.	.	ENSG00000147509	ENST00000297313	T	0.34667	1.35	4.07	-3.78	0.04333	.	.	.	.	.	T	0.07279	0.0184	N	0.00436	-1.5	0.09310	N	0.999998	B	0.15141	0.012	B	0.08055	0.003	T	0.36625	-0.9740	9	0.02654	T	1	.	7.5771	0.27942	0.2666:0.1491:0.5843:0.0	.	73	O76081	RGS20_HUMAN	S	73	ENSP00000297313:G73S	ENSP00000297313:G73S	G	+	1	0	RGS20	54954422	0.000000	0.05858	0.000000	0.03702	0.965000	0.64279	-1.638000	0.02013	-0.709000	0.05008	0.561000	0.74099	GGC	RGS20	-	NULL	ENSG00000147509		0.647	RGS20-001	KNOWN	basic|CCDS	protein_coding	RGS20	HGNC	protein_coding	OTTHUMT00000380058.1	51	0.00	0	G			54791869	54791869	+1	no_errors	ENST00000297313	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	0.001	A
SELL	6402	genome.wustl.edu	37	1	169673765	169673765	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr1:169673765T>C	ENST00000236147.4	-	5	909	c.749A>G	c.(748-750)gAa>gGa	p.E250G	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	237	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GGTGGTTTCTTCAATCCCAGT	0.483																																						dbGAP											0													67.0	65.0	65.0					1																	169673765		1875	4103	5978	-	-	-	SO:0001583	missense	0			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.749A>G	1.37:g.169673765T>C	ENSP00000236147:p.Glu250Gly		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	pirsf_L-selectin,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EGF-like,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.E250G	ENST00000236147.4	37	c.749	CCDS53427.1	1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.378972	0.42207	.	.	ENSG00000188404	ENST00000236147	T	0.63913	-0.07	5.72	1.95	0.26073	Complement control module (2);Sushi/SCR/CCP (3);	0.717776	0.12578	N	0.456663	T	0.37999	0.1024	M	0.65320	2	0.09310	N	1	P;P	0.43578	0.811;0.811	B;B	0.43838	0.433;0.433	T	0.21109	-1.0255	10	0.34782	T	0.22	-9.251	3.3412	0.07119	0.1319:0.0773:0.1459:0.645	.	250;237	Q8WW79;P14151	.;LYAM1_HUMAN	G	250	ENSP00000236147:E250G	ENSP00000236147:E250G	E	-	2	0	SELL	167940389	0.000000	0.05858	0.021000	0.16686	0.569000	0.35902	0.834000	0.27518	0.431000	0.26258	0.533000	0.62120	GAA	SELL	-	pirsf_L-selectin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	ENSG00000188404		0.483	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	131	0.00	0	T	NM_000655		169673765	169673765	-1	no_errors	ENST00000236147	ensembl	human	known	69_37n	missense	98	17.65	21	SNP	0.000	C
SERINC1	57515	genome.wustl.edu	37	6	122775305	122775305	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr6:122775305A>G	ENST00000339697.4	-	4	526	c.442T>C	c.(442-444)Ttt>Ctt	p.F148L		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	148					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CCAGTTGTAAAAGTTCCTTCT	0.264																																						dbGAP											0													28.0	29.0	28.0					6																	122775305		2197	4283	6480	-	-	-	SO:0001583	missense	0			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.442T>C	6.37:g.122775305A>G	ENSP00000342962:p.Phe148Leu		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	pfam_TMS_TDE	p.F148L	ENST00000339697.4	37	c.442	CCDS5125.1	6	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795759	0.90453	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.15372	2.43;2.43	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	M	0.77712	2.385	0.80722	D	1	D	0.59357	0.985	D	0.63381	0.914	T	0.08638	-1.0712	10	0.52906	T	0.07	-23.0724	15.5639	0.76273	1.0:0.0:0.0:0.0	.	148	Q9NRX5	SERC1_HUMAN	L	148	ENSP00000342962:F148L;ENSP00000357439:F148L	ENSP00000342962:F148L	F	-	1	0	SERINC1	122817004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.070000	0.61991	0.528000	0.53228	TTT	SERINC1	-	pfam_TMS_TDE	ENSG00000111897		0.264	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC1	HGNC	protein_coding	OTTHUMT00000042031.2	92	0.00	0	A	NM_020755		122775305	122775305	-1	no_errors	ENST00000339697	ensembl	human	known	69_37n	missense	76	12.64	11	SNP	1.000	G
SLITRK1	114798	genome.wustl.edu	37	13	84454496	84454496	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr13:84454496G>C	ENST00000377084.2	-	1	2032	c.1147C>G	c.(1147-1149)Cga>Gga	p.R383G		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	383					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGTTATCTCGTAGGAAAAGC	0.463																																						dbGAP											0													124.0	119.0	120.0					13																	84454496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1147C>G	13.37:g.84454496G>C	ENSP00000366288:p.Arg383Gly		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R383G	ENST00000377084.2	37	c.1147	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052481	0.36181	.	.	ENSG00000178235	ENST00000377084	T	0.42131	0.98	5.38	0.796	0.18648	.	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	N	0.24115	0.695	0.45648	D	0.998577	P	0.35348	0.496	B	0.40602	0.334	T	0.22977	-1.0201	10	0.54805	T	0.06	-3.6143	14.2246	0.65850	0.0:0.0:0.3819:0.6181	.	383	Q96PX8	SLIK1_HUMAN	G	383	ENSP00000366288:R383G	ENSP00000366288:R383G	R	-	1	2	SLITRK1	83352497	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	0.896000	0.28377	0.182000	0.20032	0.555000	0.69702	CGA	SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178235		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	80	0.00	0	G	NM_052910		84454496	84454496	-1	no_errors	ENST00000377084	ensembl	human	known	69_37n	missense	91	13.33	14	SNP	0.996	C
SMC6	79677	genome.wustl.edu	37	2	17902510	17902510	+	Missense_Mutation	SNP	G	G	A	rs373857118		TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr2:17902510G>A	ENST00000448223.2	-	10	1014	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	SMC6_ENST00000381272.4_Missense_Mutation_p.R275C|SMC6_ENST00000402989.1_Missense_Mutation_p.R249C|SMC6_ENST00000351948.4_Missense_Mutation_p.R249C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	249					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACACACTGGCGCTTTAGTTCA	0.328																																						dbGAP											0													86.0	82.0	83.0					2																	17902510		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.745C>T	2.37:g.17902510G>A	ENSP00000404092:p.Arg249Cys		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.R275C	ENST00000448223.2	37	c.823	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086405	0.55861	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.88	5.88	0.94601	RecF/RecN/SMC (1);	0.361714	0.33217	N	0.005156	T	0.11110	0.0271	L	0.46157	1.445	0.58432	D	0.999999	B;P;P	0.37500	0.442;0.597;0.498	B;B;B	0.33196	0.063;0.159;0.133	T	0.02138	-1.1207	10	0.56958	D	0.05	.	19.8265	0.96619	0.0:0.0:1.0:0.0	.	275;275;249	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	C	249;249;275;249;275	ENSP00000404092:R249C;ENSP00000323439:R249C;ENSP00000370672:R275C;ENSP00000384539:R249C;ENSP00000408644:R275C	ENSP00000323439:R249C	R	-	1	0	SMC6	17765991	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.531000	0.60602	2.789000	0.95967	0.591000	0.81541	CGC	SMC6	-	NULL	ENSG00000163029		0.328	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	178	0.00	0	G	NM_024624		17902510	17902510	-1	no_errors	ENST00000381272	ensembl	human	known	69_37n	missense	104	24.64	34	SNP	1.000	A
SUB1	10923	genome.wustl.edu	37	5	32601185	32601185	+	Silent	SNP	C	C	T			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr5:32601185C>T	ENST00000265073.4	+	5	507	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	SUB1_ENST00000504789.1_3'UTR|SUB1_ENST00000515355.1_Silent_p.L127L|SUB1_ENST00000512913.1_Silent_p.L127L|SUB1_ENST00000502897.1_Silent_p.L127L	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	127					regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|single-stranded DNA binding (GO:0003697)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGTAAGAAAACTGTAAAATTC	0.308																																						dbGAP											0													49.0	53.0	52.0					5																	32601185		2200	4298	6498	-	-	-	SO:0001819	synonymous_variant	0			X79805	CCDS3897.1	5p13.3	2008-02-05			ENSG00000113387	ENSG00000113387			19985	protein-coding gene	gene with protein product		600503				8062392, 8062391	Standard	NM_006713		Approved	PC4, p15, p14	uc003jhs.2	P53999	OTTHUMG00000131071	ENST00000265073.4:c.379C>T	5.37:g.32601185C>T			Q96L29	Silent	SNP	pfam_PC4,superfamily_ssDNA-bd_transcriptional_reg	p.L127	ENST00000265073.4	37	c.379	CCDS3897.1	5																																																																																			SUB1	-	superfamily_ssDNA-bd_transcriptional_reg	ENSG00000113387		0.308	SUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUB1	HGNC	protein_coding	OTTHUMT00000253730.1	222	0.00	0	C	NM_006713		32601185	32601185	+1	no_errors	ENST00000265073	ensembl	human	known	69_37n	silent	153	13.56	24	SNP	1.000	T
SYT9	143425	genome.wustl.edu	37	11	7335088	7335088	+	Silent	SNP	C	C	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr11:7335088C>A	ENST00000318881.6	+	3	1197	c.960C>A	c.(958-960)ggC>ggA	p.G320G	SYT9_ENST00000396716.2_Silent_p.G288G	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	320	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ACTTAATCGGCCAAGTGGTGG	0.463																																						dbGAP											0													182.0	179.0	180.0					11																	7335088		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.960C>A	11.37:g.7335088C>A				Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting	p.P273T	ENST00000318881.6	37	c.817	CCDS7778.1	11																																																																																			SYT9	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,pfscan_C2_membr_targeting	ENSG00000170743		0.463	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	183	0.00	0	C	NM_175733		7335088	7335088	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000524820	ensembl	human	known	69_37n	missense	146	15.61	27	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578257	7578257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr17:7578257C>A	ENST00000269305.4	-	6	781	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E198*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E198*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E198*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E198*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E198*	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	198	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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.E198*(27)|p.0?(8)|p.E198K(5)|p.?(5)|p.P191_E198>Q(3)|p.E105*(3)|p.E66*(3)|p.E198fs*11(2)|p.E198Q(2)|p.E198fs*7(1)|p.E198fs*49(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(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)	AAATTTCCTTCCACTCGGATA	0.547		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)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	64	Substitution - Nonsense(33)|Whole gene deletion(8)|Substitution - Missense(7)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(2)|Deletion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)	urinary_tract(9)|breast(7)|ovary(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|lung(5)|prostate(5)|bone(4)|central_nervous_system(3)|oesophagus(3)|skin(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(2)|stomach(1)|soft_tissue(1)											112.0	100.0	104.0					17																	7578257		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.592G>T	17.37:g.7578257C>A	ENSP00000269305:p.Glu198*		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	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E198*	ENST00000269305.4	37	c.592	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950903	0.53186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.9371	16.7921	0.85592	0.0:1.0:0.0:0.0	.	.	.	.	X	198;198;198;198;198;198;187;105;66;105;66	.	ENSP00000269305:E198X	E	-	1	0	TP53	7518982	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	156	0.00	0	C	NM_000546		7578257	7578257	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	119	23.23	36	SNP	1.000	A
TSC2	7249	genome.wustl.edu	37	16	2136343	2136343	+	Silent	SNP	C	C	A	rs397515103		TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr16:2136343C>A	ENST00000219476.3	+	37	5442	c.4812C>A	c.(4810-4812)ggC>ggA	p.G1604G	TSC2_ENST00000568454.1_Silent_p.G1548G|TSC2_ENST00000401874.2_Silent_p.G1537G|TSC2_ENST00000353929.4_Silent_p.G1561G|TSC2_ENST00000382538.6_Silent_p.G1489G|TSC2_ENST00000350773.4_Silent_p.G1581G|TSC2_ENST00000439673.2_Silent_p.G1501G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1604	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTGAGGACGGCCAGTTCACCT	0.657			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													139.0	107.0	118.0					16																	2136343		2196	4299	6495	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4812C>A	16.37:g.2136343C>A			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Rap_GAP,pfscan_Rap_GAP	p.P332T	ENST00000219476.3	37	c.994	CCDS10458.1	16																																																																																			TSC2	-	pfam_Rap_GAP,pfscan_Rap_GAP	ENSG00000103197		0.657	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	43	0.00	0	C	NM_000548		2136343	2136343	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000569110	ensembl	human	novel	69_37n	missense	28	24.32	9	SNP	0.994	A
TUBBP5	643224	genome.wustl.edu	37	9	141069885	141069885	+	RNA	SNP	A	A	C	rs62581043	byFrequency	TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr9:141069885A>C	ENST00000503395.1	+	0	1094									tubulin, beta pseudogene 5									p.Q43P(1)									AGCCACCTGCAGCTGGAGCGC	0.662																																						dbGAP											1	Substitution - Missense(1)	kidney(1)																																								-	-	-			0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069885A>C				RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-	ENSG00000159247		0.662	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	23	0.00	0	A	NR_027156		141069885	141069885	+1	no_errors	ENST00000290377	ensembl	human	known	69_37n	rna	19	26.92	7	SNP	1.000	C
UBR2	23304	genome.wustl.edu	37	6	42629951	42629951	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr6:42629951G>A	ENST00000372899.1	+	31	3730	c.3472G>A	c.(3472-3474)Gat>Aat	p.D1158N	UBR2_ENST00000372883.3_3'UTR|RNU6-890P_ENST00000384121.1_RNA|UBR2_ENST00000372901.1_Missense_Mutation_p.D1158N	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1158					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CATGCACCCTGATCTGTCTTG	0.328																																						dbGAP											0													190.0	178.0	182.0					6																	42629951		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3472G>A	6.37:g.42629951G>A	ENSP00000361990:p.Asp1158Asn		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D1158N	ENST00000372899.1	37	c.3472	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406003	0.62288	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.47528	0.84;0.84	5.16	4.29	0.51040	Zinc finger, RING-type (1);	0.046330	0.85682	D	0.000000	T	0.31638	0.0803	L	0.37507	1.11	0.80722	D	1	D;B	0.61697	0.99;0.027	P;B	0.56216	0.794;0.017	T	0.22591	-1.0212	10	0.06494	T	0.89	-3.5632	14.0674	0.64839	0.0732:0.0:0.9268:0.0	.	1158;1158	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	N	1158	ENSP00000361990:D1158N;ENSP00000361992:D1158N	ENSP00000361990:D1158N	D	+	1	0	UBR2	42737929	1.000000	0.71417	0.998000	0.56505	0.708000	0.40852	5.328000	0.65887	1.316000	0.45131	0.462000	0.41574	GAT	UBR2	-	NULL	ENSG00000024048		0.328	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	226	0.00	0	G	NM_015255		42629951	42629951	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	missense	213	13.41	33	SNP	0.994	A
USP21	27005	genome.wustl.edu	37	1	161134356	161134356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr1:161134356delT	ENST00000289865.8	+	10	1559	c.1338delT	c.(1336-1338)agtfs	p.S446fs	PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000544598.1_5'Flank|PPOX_ENST00000367999.4_5'Flank|USP21_ENST00000368001.1_Frame_Shift_Del_p.S446fs|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000535223.1_5'Flank|USP21_ENST00000368002.3_Frame_Shift_Del_p.S446fs	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	446	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAACTCGAAGTACCAAAAAGT	0.423																																						dbGAP											0													108.0	95.0	99.0					1																	161134356		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1338delT	1.37:g.161134356delT	ENSP00000289865:p.Ser446fs		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S446fs	ENST00000289865.8	37	c.1338	CCDS30920.1	1																																																																																			USP21	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000143258		0.423	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	82	0.00	0	T			161134356	161134356	+1	no_errors	ENST00000289865	ensembl	human	known	69_37n	frame_shift_del	57	22.37	17	DEL	1.000	-
WWP2	11060	genome.wustl.edu	37	16	69922069	69922069	+	Silent	SNP	A	A	C			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr16:69922069A>C	ENST00000359154.2	+	8	932	c.831A>C	c.(829-831)acA>acC	p.T277T	WWP2_ENST00000356003.2_Silent_p.T277T|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Silent_p.T161T|WWP2_ENST00000448661.1_Silent_p.T277T|WWP2_ENST00000569174.1_Silent_p.T277T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	277					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCCAGCCACACCGGCTGAAG	0.627																																						dbGAP											0													76.0	73.0	74.0					16																	69922069		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.831A>C	16.37:g.69922069A>C			A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.T277	ENST00000359154.2	37	c.831	CCDS10885.1	16																																																																																			WWP2	-	NULL	ENSG00000198373		0.627	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	44	0.00	0	A	NM_007014		69922069	69922069	+1	no_errors	ENST00000356003	ensembl	human	known	69_37n	silent	51	17.46	11	SNP	0.016	C
ZNF473	25888	genome.wustl.edu	37	19	50548416	50548416	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A0TS-01A-11D-A10Y-09	TCGA-AR-A0TS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9253ecc-cfac-4cc5-8dab-1e502d34d103	5554cf4e-b4a0-4938-b5d4-852a5bca8de7	g.chr19:50548416A>T	ENST00000595661.1	+	6	1211	c.716A>T	c.(715-717)cAt>cTt	p.H239L	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.H239L|ZNF473_ENST00000270617.3_Missense_Mutation_p.H239L|ZNF473_ENST00000445728.3_Missense_Mutation_p.H227L|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	239					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CCCACTGTCCATCAAGAGTGT	0.448																																						dbGAP											0													105.0	95.0	98.0					19																	50548416		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.716A>T	19.37:g.50548416A>T	ENSP00000472808:p.His239Leu		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H239L	ENST00000595661.1	37	c.716	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	A	7.661	0.684960	0.14973	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.59772	0.24;0.24;0.24	4.17	-8.35	0.00984	Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.254980	0.01892	N	0.038627	T	0.27384	0.0672	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40608	-0.9554	10	0.72032	D	0.01	1.8898	6.3659	0.21455	0.1131:0.3866:0.4045:0.0959	.	239	Q8WTR7	ZN473_HUMAN	L	239;239;227	ENSP00000270617:H239L;ENSP00000375697:H239L;ENSP00000388961:H227L	ENSP00000270617:H239L	H	+	2	0	ZNF473	55240228	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	0.633000	0.24598	-2.550000	0.00480	-0.313000	0.08912	CAT	ZNF473	-	NULL	ENSG00000142528		0.448	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	72	0.00	0	A	XM_046390		50548416	50548416	+1	no_errors	ENST00000270617	ensembl	human	known	69_37n	missense	58	24.36	19	SNP	0.000	T
