#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
CAMSAP3	57662	genome.wustl.edu	37	19	7682810	7682810	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr19:7682810C>T	ENST00000160298.4	+	17	3718	c.3617C>T	c.(3616-3618)tCg>tTg	p.S1206L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.S1233L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1206	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AAGTACAACTCGGACCGCAAG	0.632																																						dbGAP											0													45.0	51.0	49.0					19																	7682810		2064	4186	6250	-	-	-	SO:0001583	missense	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3617C>T	19.37:g.7682810C>T	ENSP00000160298:p.Ser1206Leu		Q8NDF1	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.S1233L	ENST00000160298.4	37	c.3698	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822154	0.90873	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.42131	1.01;0.98	4.91	3.88	0.44766	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.146666	0.47455	D	0.000231	T	0.65842	0.2730	M	0.84773	2.715	0.80722	D	1	P;P;D	0.76494	0.627;0.627;0.999	B;B;D	0.79784	0.139;0.139;0.993	T	0.71676	-0.4521	10	0.87932	D	0	-9.5106	11.9949	0.53196	0.0:0.915:0.0:0.085	.	1217;1206;1233	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	L	1233;1206	ENSP00000416797:S1233L;ENSP00000160298:S1206L	ENSP00000160298:S1206L	S	+	2	0	KIAA1543	7588810	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	5.816000	0.69222	1.296000	0.44742	0.462000	0.41574	TCG	CAMSAP3	-	pfam_CKK_domain,superfamily_PRC_barrell-like	ENSG00000076826		0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	68	0.00	0	C	XM_048362		7682810	7682810	+1	no_errors	ENST00000446248	ensembl	human	known	69_37n	missense	65	10.96	8	SNP	0.998	T
COBL	23242	genome.wustl.edu	37	7	51095504	51095504	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr7:51095504G>T	ENST00000265136.7	-	10	3454	c.3289C>A	c.(3289-3291)Cct>Act	p.P1097T	COBL_ENST00000395542.2_Missense_Mutation_p.P1179T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1097					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGACAACAGGTTTGAATTTT	0.498																																					NSCLC(189;2119 2138 12223 30818 34679)	dbGAP											0													181.0	162.0	168.0					7																	51095504		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3289C>A	7.37:g.51095504G>T	ENSP00000265136:p.Pro1097Thr		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P1179T	ENST00000265136.7	37	c.3535	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998326	0.74818	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.61980	0.08;0.26;0.16;0.06	5.27	5.27	0.74061	.	0.000000	0.41823	D	0.000809	T	0.72684	0.3491	L	0.36672	1.1	0.39156	D	0.962316	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.995;0.999;0.999;1.0	T	0.77011	-0.2746	10	0.87932	D	0	.	17.8699	0.88808	0.0:0.0:1.0:0.0	.	1097;1154;1097;1179;639	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	T	1097;989;982;1179	ENSP00000265136:P1097T;ENSP00000401204:P989T;ENSP00000413498:P982T;ENSP00000378912:P1179T	ENSP00000265136:P1097T	P	-	1	0	COBL	51062998	1.000000	0.71417	0.089000	0.20774	0.966000	0.64601	6.799000	0.75160	2.440000	0.82611	0.563000	0.77884	CCT	COBL	-	NULL	ENSG00000106078		0.498	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	321	0.62	2	G	NM_015198		51095504	51095504	-1	no_errors	ENST00000395542	ensembl	human	known	69_37n	missense	303	13.64	48	SNP	0.845	T
EIF2AK3	9451	genome.wustl.edu	37	2	88885398	88885398	+	Silent	SNP	C	C	A	rs186435400	byFrequency	TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr2:88885398C>A	ENST00000303236.3	-	9	1912	c.1611G>T	c.(1609-1611)acG>acT	p.T537T	EIF2AK3_ENST00000419748.1_Silent_p.T386T	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	537					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GCACAATAAACGTTGTTGCTA	0.408																																					GBM(138;671 1851 16235 39058 45249)	dbGAP											0													177.0	159.0	165.0					2																	88885398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1611G>T	2.37:g.88885398C>A			A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T537	ENST00000303236.3	37	c.1611	CCDS33241.1	2																																																																																			EIF2AK3	-	NULL	ENSG00000172071		0.408	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2	255	0.00	0	C	NM_004836		88885398	88885398	-1	no_errors	ENST00000303236	ensembl	human	known	69_37n	silent	182	14.55	31	SNP	0.884	A
GP1BA	2811	genome.wustl.edu	37	17	4837701	4837701	+	Missense_Mutation	SNP	C	C	G	rs374187529		TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr17:4837701C>G	ENST00000329125.5	+	2	1877	c.1802C>G	c.(1801-1803)tCg>tGg	p.S601W		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	601					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.S601L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CTTCGAGGTTCGCTTCCCACT	0.632											OREG0024109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	endometrium(1)											96.0	111.0	106.0					17																	4837701		2081	4195	6276	-	-	-	SO:0001583	missense	0				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1802C>G	17.37:g.4837701C>G	ENSP00000329380:p.Ser601Trp	621	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S601W	ENST00000329125.5	37	c.1802	CCDS54068.1	17	.	.	.	.	.	.	.	.	.	.	C	5.958	0.360751	0.11296	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.54675	0.56	5.02	1.39	0.22231	.	0.340170	0.16793	N	0.199295	T	0.50565	0.1623	L	0.32530	0.975	0.09310	N	0.999999	D	0.60575	0.988	P	0.57846	0.828	T	0.34800	-0.9814	10	0.87932	D	0	-3.3898	5.6691	0.17713	0.0:0.6263:0.1675:0.2062	.	588	A5CKE2	.	W	601;575	ENSP00000329380:S601W	ENSP00000329380:S601W	S	+	2	0	GP1BA	4778442	0.000000	0.05858	0.066000	0.19879	0.034000	0.12701	0.354000	0.20146	0.543000	0.28864	-0.480000	0.04831	TCG	GP1BA	-	NULL	ENSG00000185245		0.632	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP1BA	HGNC	protein_coding	OTTHUMT00000439889.1	77	0.00	0	C			4837701	4837701	+1	no_errors	ENST00000329125	ensembl	human	known	69_37n	missense	121	18.24	27	SNP	0.001	G
GPKOW	27238	genome.wustl.edu	37	X	48978773	48978773	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chrX:48978773G>T	ENST00000156109.5	-	3	509	c.431C>A	c.(430-432)gCa>gAa	p.A144E		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	144						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TTCGCTGTCTGCCCCTTCCCC	0.627																																						dbGAP											0													38.0	32.0	34.0					X																	48978773		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.431C>A	X.37:g.48978773G>T	ENSP00000156109:p.Ala144Glu		Q59EK5|Q9BQA8	Missense_Mutation	SNP	pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom	p.A144E	ENST00000156109.5	37	c.431	CCDS35251.1	X	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596192	0.28445	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.17	2.3	0.28687	.	0.417145	0.26518	N	0.023939	T	0.13543	0.0328	N	0.05280	-0.08	0.19300	N	0.999971	B	0.27013	0.166	B	0.31946	0.138	T	0.35919	-0.9769	9	0.02654	T	1	-2.4038	4.7528	0.13068	0.122:0.0:0.6647:0.2133	.	144	Q92917	GPKOW_HUMAN	E	144	.	ENSP00000156109:A144E	A	-	2	0	GPKOW	48865717	0.085000	0.21516	0.873000	0.34254	0.990000	0.78478	0.024000	0.13555	0.304000	0.22809	0.508000	0.49915	GCA	GPKOW	-	NULL	ENSG00000068394		0.627	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	88	0.00	0	G	NM_015698		48978773	48978773	-1	no_errors	ENST00000156109	ensembl	human	known	69_37n	missense	107	24.48	35	SNP	0.467	T
HIST1H2AE	3012	genome.wustl.edu	37	6	26217367	26217367	+	Silent	SNP	G	G	A			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr6:26217367G>A	ENST00000303910.2	+	1	203	c.165G>A	c.(163-165)gtG>gtA	p.V55V	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	55						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TGGCAGCGGTGCTGGAATATC	0.622																																						dbGAP											0													49.0	50.0	50.0					6																	26217367		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.165G>A	6.37:g.26217367G>A			P28001|Q76P63	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.V55	ENST00000303910.2	37	c.165	CCDS4595.1	6																																																																																			HIST1H2AE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000168274		0.622	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1	73	0.00	0	G	NM_021052		26217367	26217367	+1	no_errors	ENST00000303910	ensembl	human	known	69_37n	silent	112	16.42	22	SNP	1.000	A
KCNK2	3776	genome.wustl.edu	37	1	215408369	215408369	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr1:215408369C>T	ENST00000444842.2	+	7	1312	c.1162C>T	c.(1162-1164)Cac>Tac	p.H388Y	KCNK2_ENST00000391895.2_Missense_Mutation_p.H384Y|KCNK2_ENST00000391894.2_Missense_Mutation_p.H373Y	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	388	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GTCAGTGAACCACCTGACCAG	0.542																																						dbGAP											0													100.0	98.0	99.0					1																	215408369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1162C>T	1.37:g.215408369C>T	ENSP00000394033:p.His388Tyr		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.H388Y	ENST00000444842.2	37	c.1162	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033303	0.54896	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.19669	2.13;2.14;2.13	5.72	5.72	0.89469	.	0.247577	0.41396	D	0.000900	T	0.16514	0.0397	N	0.14661	0.345	0.47737	D	0.999508	B;B;B	0.24426	0.103;0.063;0.103	B;B;B	0.21917	0.037;0.016;0.037	T	0.05550	-1.0878	10	0.42905	T	0.14	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	373;388;384	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	Y	384;373;388	ENSP00000375765:H384Y;ENSP00000375764:H373Y;ENSP00000394033:H388Y	ENSP00000375764:H373Y	H	+	1	0	KCNK2	213474992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.950000	0.49081	2.708000	0.92522	0.561000	0.74099	CAC	KCNK2	-	NULL	ENSG00000082482		0.542	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	157	0.00	0	C	NM_014217		215408369	215408369	+1	no_errors	ENST00000444842	ensembl	human	known	69_37n	missense	208	11.11	26	SNP	1.000	T
NEK3	4752	genome.wustl.edu	37	13	52726763	52726763	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr13:52726763delT	ENST00000400357.2	-	4	1667	c.374delA	c.(373-375)cacfs	p.H125fs	NEK3_ENST00000452082.2_Frame_Shift_Del_p.H146fs|NEK3_ENST00000339406.3_Frame_Shift_Del_p.H125fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.H125fs			P51956	NEK3_HUMAN	NIMA-related kinase 3	125	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GATATCTCTGTGTAGCACACG	0.353																																						dbGAP											0													162.0	145.0	150.0					13																	52726763		1834	4094	5928	-	-	-	SO:0001589	frameshift_variant	0			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.374delA	13.37:g.52726763delT	ENSP00000383210:p.His125fs		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Frame_Shift_Del	DEL	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H146fs	ENST00000400357.2	37	c.437	CCDS53871.1	13																																																																																			NEK3	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000136098		0.353	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NEK3	HGNC	protein_coding	OTTHUMT00000045047.3	213	0.00	0	T			52726763	52726763	-1	no_errors	ENST00000452082	ensembl	human	known	69_37n	frame_shift_del	216	25.42	75	DEL	1.000	-
MFSD3	113655	genome.wustl.edu	37	8	145739483	145739483	+	IGR	SNP	C	C	T	rs386833847|rs386833846		TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr8:145739483C>T	ENST00000301327.4	+	0	1548				CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Silent_p.R629R|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCATGCGCTCCCGAAGCACCT	0.682																																						dbGAP											0													13.0	18.0	17.0					8																	145739483		2109	4216	6325	-	-	-	SO:0001628	intergenic_variant	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145739483C>T				RNA	SNP	-	NULL	ENST00000301327.4	37	NULL	CCDS6431.1	8																																																																																			RECQL4	-	-	ENSG00000160957		0.682	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	HGNC	protein_coding	OTTHUMT00000382478.2	34	0.00	0	C	NM_138431		145739483	145739483	-1	no_errors	ENST00000428558	ensembl	human	known	69_37n	rna	30	20.00	8	SNP	0.998	T
RUNX1	861	genome.wustl.edu	37	21	36252853	36252853	+	Splice_Site	SNP	C	C	G			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr21:36252853C>G	ENST00000344691.4	-	2	2005		c.e2+1		RUNX1_ENST00000437180.1_Splice_Site|RUNX1_ENST00000399240.1_Splice_Site|RUNX1_ENST00000358356.5_Splice_Site|RUNX1_ENST00000486278.2_Splice_Site|RUNX1_ENST00000325074.5_Splice_Site|RUNX1_ENST00000300305.3_Splice_Site	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1						behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.?(2)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AGATAACGTACCTCTTCCACT	0.433			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	2	Unknown(2)	haematopoietic_and_lymphoid_tissue(2)											115.0	103.0	107.0					21																	36252853		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.427+1G>C	21.37:g.36252853C>G			A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Splice_Site	SNP	-	e4+1	ENST00000344691.4	37	c.508+1	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537978	0.85917	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3355	0.94316	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RUNX1	35174723	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.445000	0.80570	2.652000	0.90054	0.655000	0.94253	.	RUNX1	-	-	ENSG00000159216		0.433	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	175	0.00	0	C		Intron	36252853	36252853	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	splice_site	187	12.96	28	SNP	1.000	G
SLC46A1	113235	genome.wustl.edu	37	17	26732105	26732105	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr17:26732105G>A	ENST00000440501.1	-	2	705	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	SLC46A1_ENST00000321666.5_Missense_Mutation_p.R204W|CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	204					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CCCTGGGCCCGGAGCCAGTGG	0.627																																						dbGAP											0													32.0	38.0	36.0					17																	26732105		1998	4158	6156	-	-	-	SO:0001583	missense	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.610C>T	17.37:g.26732105G>A	ENSP00000395653:p.Arg204Trp		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R204W	ENST00000440501.1	37	c.610		17	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389357	0.61956	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.57907	0.37;0.37	5.26	3.1	0.35709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.395446	0.26055	N	0.026606	T	0.67664	0.2917	.	.	.	0.23909	N	0.996497	D;D;D	0.76494	0.999;0.998;0.999	P;P;D	0.63113	0.862;0.795;0.911	T	0.62296	-0.6884	9	0.62326	D	0.03	-13.2872	14.3902	0.66973	0.0:0.0:0.6131:0.3869	.	204;204;204	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	W	204	ENSP00000395653:R204W;ENSP00000318828:R204W	ENSP00000318828:R204W	R	-	1	2	SLC46A1	23756232	0.001000	0.12720	0.994000	0.49952	0.986000	0.74619	0.597000	0.24059	1.320000	0.45209	0.462000	0.41574	CGG	SLC46A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000076351		0.627	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding		37	0.00	0	G	NM_080669		26732105	26732105	-1	no_errors	ENST00000440501	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.340	A
THNSL1	79896	genome.wustl.edu	37	10	25313006	25313006	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr10:25313006G>T	ENST00000524413.1	+	3	1201	c.854G>T	c.(853-855)gGa>gTa	p.G285V	THNSL1_ENST00000376356.4_Missense_Mutation_p.G285V			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	285						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AGCCTAGTAGGAGCAACCTAC	0.463																																						dbGAP											0													91.0	94.0	93.0					10																	25313006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.854G>T	10.37:g.25313006G>T	ENSP00000434887:p.Gly285Val		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	pfam_Shikimate_kinase,pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,prints_Shikimate_kinase,tigrfam_Thr_synthase	p.G285V	ENST00000524413.1	37	c.854	CCDS7147.1	10	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287930	0.23478	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.13538	2.58;2.58	5.71	5.71	0.89125	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.523579	0.19682	N	0.108485	T	0.26666	0.0652	M	0.89840	3.065	0.49687	D	0.999813	P	0.35656	0.514	B	0.35182	0.197	T	0.08889	-1.0700	10	0.72032	D	0.01	-20.2378	13.5362	0.61648	0.0803:0.0:0.9197:0.0	.	285	Q8IYQ7	THNS1_HUMAN	V	285	ENSP00000434887:G285V;ENSP00000365534:G285V	ENSP00000365534:G285V	G	+	2	0	THNSL1	25353012	1.000000	0.71417	0.974000	0.42286	0.970000	0.65996	2.351000	0.44071	2.700000	0.92200	0.650000	0.86243	GGA	THNSL1	-	superfamily_PyrdxlP-dep_enz_bsu	ENSG00000185875		0.463	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	THNSL1	HGNC	protein_coding	OTTHUMT00000394913.1	228	0.00	0	G	NM_024838		25313006	25313006	+1	no_errors	ENST00000376356	ensembl	human	known	69_37n	missense	193	14.60	33	SNP	0.674	T
TLR8	51311	genome.wustl.edu	37	X	12937272	12937272	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chrX:12937272A>G	ENST00000218032.6	+	2	200	c.113A>G	c.(112-114)gAg>gGg	p.E38G	TLR8_ENST00000311912.5_Missense_Mutation_p.E56G	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	38					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CCTTGTGATGAGAAAAAGCAA	0.433																																						dbGAP											0													92.0	85.0	87.0					X																	12937272		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.113A>G	X.37:g.12937272A>G	ENSP00000218032:p.Glu38Gly		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.E38G	ENST00000218032.6	37	c.113	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	A	11.32	1.602562	0.28534	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.41400	1.0;1.0	5.22	0.987	0.19790	.	0.793559	0.10514	N	0.665720	T	0.29556	0.0737	N	0.24115	0.695	0.09310	N	1	P;P	0.48640	0.913;0.913	B;B	0.43575	0.424;0.424	T	0.14504	-1.0470	10	0.87932	D	0	.	6.7891	0.23689	0.239:0.1098:0.0:0.6513	.	38;56	Q9NR97;D1CS70	TLR8_HUMAN;.	G	38;56	ENSP00000218032:E38G;ENSP00000312082:E56G	ENSP00000218032:E38G	E	+	2	0	TLR8	12847193	0.988000	0.35896	0.127000	0.21898	0.036000	0.12997	2.875000	0.48491	0.156000	0.19299	0.425000	0.28330	GAG	TLR8	-	NULL	ENSG00000101916		0.433	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	89	0.00	0	A	NM_016610		12937272	12937272	+1	no_errors	ENST00000218032	ensembl	human	known	69_37n	missense	85	10.53	10	SNP	0.009	G
TRERF1	55809	genome.wustl.edu	37	6	42227276	42227276	+	Silent	SNP	C	C	T			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr6:42227276C>T	ENST00000372922.4	-	9	2632	c.2070G>A	c.(2068-2070)ccG>ccA	p.P690P	TRERF1_ENST00000541110.1_Silent_p.P710P|TRERF1_ENST00000340840.2_Silent_p.P607P|TRERF1_ENST00000354325.2_Silent_p.P607P|TRERF1_ENST00000372917.4_Silent_p.P607P	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	690	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGAGGACGCGCGGGGAGCGCA	0.726																																						dbGAP											0													22.0	30.0	27.0					6																	42227276		2196	4296	6492	-	-	-	SO:0001819	synonymous_variant	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2070G>A	6.37:g.42227276C>T			Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.P710	ENST00000372922.4	37	c.2130	CCDS4867.1	6																																																																																			TRERF1	-	NULL	ENSG00000124496		0.726	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	40	0.00	0	C	NM_033502		42227276	42227276	-1	no_errors	ENST00000541110	ensembl	human	known	69_37n	silent	44	16.67	9	SNP	0.811	T
TRHDE	29953	genome.wustl.edu	37	12	72956762	72956762	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr12:72956762C>G	ENST00000261180.4	+	9	1945	c.1849C>G	c.(1849-1851)Cag>Gag	p.Q617E	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	617					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATTACCCAACAGCATTTTAT	0.318																																						dbGAP											0													90.0	95.0	93.0					12																	72956762		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1849C>G	12.37:g.72956762C>G	ENSP00000261180:p.Gln617Glu		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Q617E	ENST00000261180.4	37	c.1849	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	5.299	0.240630	0.10023	.	.	ENSG00000072657	ENST00000261180	T	0.01192	5.2	6.17	6.17	0.99709	.	0.113799	0.64402	D	0.000018	T	0.00552	0.0018	N	0.00760	-1.21	0.38582	D	0.950205	B	0.02656	0.0	B	0.01281	0.0	T	0.52646	-0.8548	10	0.02654	T	1	.	15.125	0.72475	0.0:0.7555:0.2445:0.0	.	617	Q9UKU6	TRHDE_HUMAN	E	617	ENSP00000261180:Q617E	ENSP00000261180:Q617E	Q	+	1	0	TRHDE	71243029	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.059000	0.64306	2.941000	0.99782	0.655000	0.94253	CAG	TRHDE	-	NULL	ENSG00000072657		0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	62	0.00	0	C	NM_013381		72956762	72956762	+1	no_errors	ENST00000261180	ensembl	human	known	69_37n	missense	73	21.51	20	SNP	1.000	G
TRIM11	81559	genome.wustl.edu	37	1	228582831	228582831	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chr1:228582831C>T	ENST00000284551.6	-	6	1260	c.982G>A	c.(982-984)Ggc>Agc	p.G328S	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000493030.2_Missense_Mutation_p.G203S	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	328	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				ACGCAGGGGCCGGGGTCAAAG	0.706																																						dbGAP											0													17.0	18.0	18.0					1																	228582831		2200	4296	6496	-	-	-	SO:0001583	missense	0			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.982G>A	1.37:g.228582831C>T	ENSP00000284551:p.Gly328Ser		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.G328S	ENST00000284551.6	37	c.982	CCDS31048.1	1	.	.	.	.	.	.	.	.	.	.	C	9.806	1.181899	0.21787	.	.	ENSG00000154370	ENST00000284551	T	0.09630	2.96	5.08	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.263347	0.27068	N	0.021088	T	0.03827	0.0108	N	0.01140	-0.99	0.54753	D	0.999982	B;B	0.25486	0.127;0.005	B;B	0.25405	0.06;0.007	T	0.49790	-0.8902	10	0.21540	T	0.41	.	12.3258	0.55009	0.1698:0.8302:0.0:0.0	.	327;328	Q96F44-3;Q96F44	.;TRI11_HUMAN	S	328	ENSP00000284551:G328S	ENSP00000284551:G328S	G	-	1	0	TRIM11	226649454	0.000000	0.05858	0.935000	0.37517	0.359000	0.29487	0.281000	0.18810	2.526000	0.85167	0.655000	0.94253	GGC	TRIM11	-	superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000154370		0.706	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM11	HGNC	protein_coding	OTTHUMT00000095995.3	32	0.00	0	C	NM_145214		228582831	228582831	-1	no_errors	ENST00000284551	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.044	T
ZMYM3	9203	genome.wustl.edu	37	X	70461089	70461089	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A141-01A-11D-A10Y-09	TCGA-D8-A141-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	807791d8-b6c0-4722-bf5c-d5fa30baffc6	8bd52c2f-131d-40cc-8c24-f8021128cb93	g.chrX:70461089T>C	ENST00000353904.2	-	24	4095	c.3908A>G	c.(3907-3909)tAt>tGt	p.Y1303C	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.Y1291C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Y1303C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Y1305C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Y1213C	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1303					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTTTGAGAGATAGAATTCATA	0.517																																						dbGAP											0													110.0	90.0	97.0					X																	70461089		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3908A>G	X.37:g.70461089T>C	ENSP00000343909:p.Tyr1303Cys		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.Y1305C	ENST00000353904.2	37	c.3914	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	t	17.36	3.368983	0.61624	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.74632	-0.26;-0.86;-0.26;-0.16;-0.27	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000019	D	0.84826	0.5558	M	0.73962	2.25	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86749	0.1959	10	0.87932	D	0	-9.3619	13.0595	0.59000	0.0:0.0:0.0:1.0	.	1291;1303	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1303;1291;1303;1213;1305	ENSP00000322845:Y1303C;ENSP00000363110:Y1291C;ENSP00000343909:Y1303C;ENSP00000363096:Y1213C;ENSP00000363100:Y1305C	ENSP00000322845:Y1303C	Y	-	2	0	ZMYM3	70377814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.518000	0.81795	1.652000	0.50683	0.472000	0.43445	TAT	ZMYM3	-	pfam_DUF3504	ENSG00000147130		0.517	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	315	0.00	0	T	NM_201599		70461089	70461089	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	missense	282	14.29	47	SNP	1.000	C
