#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
ACVR2A	92	genome.wustl.edu	37	2	148657378	148657378	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr2:148657378C>G	ENST00000241416.7	+	4	1075	c.439C>G	c.(439-441)Ctt>Gtt	p.L147V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.L147V|ACVR2A_ENST00000535787.1_Missense_Mutation_p.L39V|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	147					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTTGGTGCCACTTATGTTAAT	0.438																																						dbGAP											0													280.0	263.0	269.0					2																	148657378		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.439C>G	2.37:g.148657378C>G	ENSP00000241416:p.Leu147Val		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.L147V	ENST00000241416.7	37	c.439	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623606	0.28889	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.83992	-1.79;-1.73;-1.79	5.22	4.29	0.51040	.	0.100553	0.64402	D	0.000003	T	0.70404	0.3220	N	0.20685	0.6	0.41338	D	0.987289	B	0.02656	0.0	B	0.04013	0.001	T	0.65166	-0.6234	10	0.27082	T	0.32	.	12.8608	0.57911	0.2874:0.7126:0.0:0.0	.	147	P27037	AVR2A_HUMAN	V	147;39;147	ENSP00000241416:L147V;ENSP00000439988:L39V;ENSP00000384338:L147V	ENSP00000241416:L147V	L	+	1	0	ACVR2A	148373848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.190000	0.42630	2.608000	0.88229	0.585000	0.79938	CTT	ACVR2A	-	NULL	ENSG00000121989		0.438	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	645	0.00	0	C	NM_001616		148657378	148657378	+1	no_errors	ENST00000241416	ensembl	human	known	69_37n	missense	447	28.93	182	SNP	1.000	G
APOA4	337	genome.wustl.edu	37	11	116692402	116692402	+	Silent	SNP	G	G	A			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr11:116692402G>A	ENST00000357780.3	-	3	486	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	124	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ggttgtccccgatcttctggc	0.657																																						dbGAP											0													32.0	33.0	32.0					11																	116692402		2198	4291	6489	-	-	-	SO:0001819	synonymous_variant	0				CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.372C>T	11.37:g.116692402G>A			A8MSL6|Q14CW8|Q6Q787	Silent	SNP	pfam_ApoA1_A4_E	p.I124	ENST00000357780.3	37	c.372	CCDS31681.1	11																																																																																			APOA4	-	pfam_ApoA1_A4_E	ENSG00000110244		0.657	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA4	HGNC	protein_coding	OTTHUMT00000106279.2	55	0.00	0	G	NM_000482		116692402	116692402	-1	no_errors	ENST00000357780	ensembl	human	known	69_37n	silent	13	51.85	14	SNP	0.114	A
ARHGAP24	83478	genome.wustl.edu	37	4	86898785	86898785	+	Missense_Mutation	SNP	C	C	T	rs553105622		TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr4:86898785C>T	ENST00000395184.1	+	8	1335	c.869C>T	c.(868-870)aCg>aTg	p.T290M	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.T195M|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.T197M	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	290	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AACTTGGCAACGGTCTTTGGT	0.393																																						dbGAP											0													130.0	114.0	119.0					4																	86898785		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.869C>T	4.37:g.86898785C>T	ENSP00000378611:p.Thr290Met		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.T290M	ENST00000395184.1	37	c.869	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.252900	0.95336	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.95	5.95	0.96441	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	L	0.42008	1.315	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75020	0.985;0.974;0.916	T	0.05500	-1.0881	10	0.56958	D	0.05	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	195;197;290	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	M	290;195;205;197	ENSP00000378611:T290M;ENSP00000378610:T195M;ENSP00000425589:T205M;ENSP00000264343:T197M	ENSP00000264343:T197M	T	+	2	0	ARHGAP24	87117809	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	ACG	ARHGAP24	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000138639		0.393	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	127	0.00	0	C	NM_031305		86898785	86898785	+1	no_errors	ENST00000395184	ensembl	human	known	69_37n	missense	97	30.22	42	SNP	1.000	T
CCNJL	79616	genome.wustl.edu	37	5	159686723	159686723	+	Silent	SNP	C	C	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr5:159686723C>T	ENST00000393977.3	-	5	765	c.480G>A	c.(478-480)acG>acA	p.T160T	CCNJL_ENST00000541762.1_Silent_p.T111T|CCNJL_ENST00000257536.7_Silent_p.T112T|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Silent_p.T112T	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	160	Cyclin N-terminal.					nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAGGATCCTCGTGCTGTTTA	0.572																																						dbGAP											0													148.0	145.0	146.0					5																	159686723		2066	4210	6276	-	-	-	SO:0001819	synonymous_variant	0			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.480G>A	5.37:g.159686723C>T			Q6ZN43|Q9H7W8	Silent	SNP	pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.T160	ENST00000393977.3	37	c.480	CCDS4350.2	5																																																																																			CCNJL	-	superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000135083		0.572	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	72	0.00	0	C	NM_024565		159686723	159686723	-1	no_errors	ENST00000393977	ensembl	human	known	69_37n	silent	77	25.47	27	SNP	0.578	T
CDH24	64403	genome.wustl.edu	37	14	23523784	23523785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr14:23523784_23523785insC	ENST00000267383.5	-	4	806_807	c.714_715insG	c.(712-717)gggctgfs	p.L239fs	CDH24_ENST00000554034.1_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.L239fs|CDH24_ENST00000397359.3_Frame_Shift_Ins_p.L239fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTGCCTGACAGCCCCCCCATGT	0.609											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.715dupG	14.37:g.23523791_23523791dupC	ENSP00000267383:p.Leu239fs	764	D3DS44|Q86UP1|Q9NT84	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L238fs	ENST00000267383.5	37	c.715_714	CCDS9585.1	14																																																																																			CDH24	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000139880		0.609	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	37	0.00	0	-	NM_022478		23523784	23523785	-1	no_errors	ENST00000267383	ensembl	human	known	69_37n	frame_shift_ins	8	33.33	4	INS	1.000:1.000	C
CDK12	51755	genome.wustl.edu	37	17	37618384	37618385	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr17:37618384_37618385delTT	ENST00000447079.4	+	1	93_94	c.60_61delTT	c.(58-63)actttgfs	p.L21fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.L21fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	21					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTTCTGGAACTTTGCAGCCGTC	0.55			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												dbGAP		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.60_61delTT	17.37:g.37618384_37618385delTT	ENSP00000398880:p.Leu21fs		A7E2B2|B4DYX4|B9EIQ6|O94978	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	p.L21fs	ENST00000447079.4	37	c.60_61	CCDS11337.1	17																																																																																			CDK12	-	NULL	ENSG00000167258		0.550	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	53	0.00	0	TT	NM_016507		37618384	37618385	+1	no_errors	ENST00000447079	ensembl	human	known	69_37n	frame_shift_del	20	44.44	16	DEL	0.997:0.974	-
CDS1	1040	genome.wustl.edu	37	4	85540676	85540676	+	Silent	SNP	C	C	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr4:85540676C>T	ENST00000295887.5	+	5	993	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CATTTGCCCTCTATCTGGCAG	0.294																																						dbGAP											0													83.0	77.0	79.0					4																	85540676		2203	4295	6498	-	-	-	SO:0001819	synonymous_variant	0			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.570C>T	4.37:g.85540676C>T			A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.L190	ENST00000295887.5	37	c.570	CCDS3608.1	4																																																																																			CDS1	-	pfam_PC_trans,pirsf_PC_Trfase_euk	ENSG00000163624		0.294	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS1	HGNC	protein_coding	OTTHUMT00000252817.2	145	0.00	0	C			85540676	85540676	+1	no_errors	ENST00000295887	ensembl	human	known	69_37n	silent	111	33.13	55	SNP	1.000	T
CHEK2	11200	genome.wustl.edu	37	22	29092948	29092948	+	Missense_Mutation	SNP	G	G	A	rs201206424		TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr22:29092948G>A	ENST00000405598.1	-	11	1227	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	CHEK2_ENST00000328354.6_Missense_Mutation_p.R346C|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.R346C|CHEK2_ENST00000382578.1_Missense_Mutation_p.R255C|CHEK2_ENST00000403642.1_Missense_Mutation_p.R255C|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000544772.1_Missense_Mutation_p.R125C|CHEK2_ENST00000382580.2_Missense_Mutation_p.R389C			O96017	CHK2_HUMAN	checkpoint kinase 2	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.R346G(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTTAAGTCACGGTGTATAATA	0.383			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														dbGAP	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	1	Substitution - Missense(1)	lung(1)											132.0	112.0	119.0					22																	29092948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1036C>T	22.37:g.29092948G>A	ENSP00000386087:p.Arg346Cys		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom	p.R389C	ENST00000405598.1	37	c.1165	CCDS13843.1	22	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092720	0.76756	.	.	ENSG00000183765	ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000447421	T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.65	3.5	0.40072	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.82472	-0.0440	10	0.87932	D	0	-1.4542	10.0972	0.42482	0.0715:0.0:0.7921:0.1363	.	255;125;346;346;389	O96017-4;Q9HBS5;A8JZZ5;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	C	255;125;346;346;346;389;255;279	ENSP00000372021:R255C;ENSP00000442458:R125C;ENSP00000329178:R346C;ENSP00000385747:R346C;ENSP00000386087:R346C;ENSP00000372023:R389C;ENSP00000384919:R255C;ENSP00000397478:R279C	ENSP00000329178:R346C	R	-	1	0	CHEK2	27422948	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	2.736000	0.47385	1.385000	0.46445	-0.145000	0.13849	CGT	CHEK2	-	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	ENSG00000183765		0.383	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	46	0.00	0	G	NM_001005735		29092948	29092948	-1	no_errors	ENST00000382580	ensembl	human	known	69_37n	missense	22	55.10	27	SNP	1.000	A
CLCNKB	1188	genome.wustl.edu	37	1	16376146	16376146	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr1:16376146G>A	ENST00000375679.4	+	9	926	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R103Q	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	272					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGTTTCCGGGTGGACGTT	0.597																																						dbGAP											0													37.0	35.0	35.0					1																	16376146		2200	4264	6464	-	-	-	SO:0001583	missense	0			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.815G>A	1.37:g.16376146G>A	ENSP00000364831:p.Arg272Gln		B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.R272Q	ENST00000375679.4	37	c.815	CCDS168.1	1	.	.	.	.	.	.	.	.	.	.	g	10.87	1.473437	0.26423	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.92805	-3.11;-3.11	4.27	-0.179	0.13299	Chloride channel, core (2);	0.702293	0.13707	N	0.368388	D	0.89670	0.6782	L	0.41492	1.28	0.09310	N	0.999999	P;B	0.47484	0.896;0.014	P;B	0.52159	0.691;0.037	T	0.81129	-0.1073	10	0.40728	T	0.16	.	7.498	0.27500	0.1362:0.4687:0.3951:0.0	.	103;272	Q5T5Q7;P51801	.;CLCKB_HUMAN	Q	272;103	ENSP00000364831:R272Q;ENSP00000364819:R103Q	ENSP00000364819:R103Q	R	+	2	0	CLCNKB	16248733	0.000000	0.05858	0.604000	0.28916	0.392000	0.30506	0.027000	0.13621	0.005000	0.14708	-0.311000	0.09066	CGG	CLCNKB	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000184908		0.597	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	HGNC	protein_coding	OTTHUMT00000026331.1	65	0.00	0	G	NM_000085		16376146	16376146	+1	no_errors	ENST00000375679	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	0.024	A
EFCAB5	374786	genome.wustl.edu	37	17	28381157	28381157	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr17:28381157C>T	ENST00000394835.3	+	10	2377	c.2185C>T	c.(2185-2187)Cac>Tac	p.H729Y	EFCAB5_ENST00000541045.1_Missense_Mutation_p.H386Y|EFCAB5_ENST00000536908.2_Missense_Mutation_p.H673Y|EFCAB5_ENST00000320856.5_Missense_Mutation_p.H729Y|EFCAB5_ENST00000378738.3_Missense_Mutation_p.H729Y|EFCAB5_ENST00000394832.2_Missense_Mutation_p.H729Y	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	729							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGAAAAGATCACTTTCCAGG	0.373																																						dbGAP											0													20.0	19.0	19.0					17																	28381157		1856	4090	5946	-	-	-	SO:0001583	missense	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2185C>T	17.37:g.28381157C>T	ENSP00000378312:p.His729Tyr		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.H729Y	ENST00000394835.3	37	c.2185	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.430736	0.01117	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.50277	1.77;0.75;2.82;2.79;2.09;1.76;2.8	5.08	-2.44	0.06502	.	2.486670	0.01095	N	0.005278	T	0.31638	0.0803	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B	0.18461	0.016;0.028;0.013;0.013;0.001;0.004	B;B;B;B;B;B	0.15052	0.005;0.011;0.007;0.012;0.002;0.006	T	0.26121	-1.0112	10	0.72032	D	0.01	7.4943	1.1009	0.01683	0.2792:0.2849:0.2732:0.1627	.	673;673;729;729;729;729	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	Y	673;472;386;729;729;729;729;673;535	ENSP00000440619:H673Y;ENSP00000445575:H386Y;ENSP00000378312:H729Y;ENSP00000322003:H729Y;ENSP00000378309:H729Y;ENSP00000368012:H729Y;ENSP00000417009:H535Y	ENSP00000322003:H729Y	H	+	1	0	EFCAB5	25405283	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.768000	0.04715	-0.127000	0.11661	-1.292000	0.01352	CAC	EFCAB5	-	NULL	ENSG00000176927		0.373	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	62	0.00	0	C	NM_198529		28381157	28381157	+1	no_errors	ENST00000394835	ensembl	human	known	69_37n	missense	63	19.23	15	SNP	0.000	T
FBXO18	84893	genome.wustl.edu	37	10	5963220	5963220	+	Splice_Site	SNP	G	G	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr10:5963220G>T	ENST00000362091.4	+	14	2215		c.e14-1		FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000379999.5_Splice_Site	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GTTGTTTTCAGAGTTTTCGGT	0.507																																						dbGAP											0													102.0	98.0	100.0					10																	5963220		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2101-1G>T	10.37:g.5963220G>T			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Splice_Site	SNP	-	e15-1	ENST00000362091.4	37	c.2254-1	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387801	0.61956	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3957	0.94605	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO18	6003226	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	8.575000	0.90766	2.880000	0.98712	0.650000	0.86243	.	FBXO18	-	-	ENSG00000134452		0.507	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	105	0.00	0	G	NM_032807	Intron	5963220	5963220	+1	no_errors	ENST00000379999	ensembl	human	known	69_37n	splice_site	48	38.46	30	SNP	1.000	T
FEM1B	10116	genome.wustl.edu	37	15	68582349	68582349	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr15:68582349A>T	ENST00000306917.4	+	2	1268	c.653A>T	c.(652-654)cAt>cTt	p.H218L		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	218					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GTGAATGGCCATGGGATGACG	0.468																																						dbGAP											0													114.0	104.0	107.0					15																	68582349		2200	4298	6498	-	-	-	SO:0001583	missense	0				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.653A>T	15.37:g.68582349A>T	ENSP00000307298:p.His218Leu		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H218L	ENST00000306917.4	37	c.653	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597855	0.46318	.	.	ENSG00000169018	ENST00000306917	T	0.65178	-0.14	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	N	0.12502	0.225	0.80722	D	1	B	0.23540	0.087	B	0.18871	0.023	T	0.37502	-0.9703	10	0.13108	T	0.6	-9.678	15.2704	0.73696	1.0:0.0:0.0:0.0	.	218	Q9UK73	FEM1B_HUMAN	L	218	ENSP00000307298:H218L	ENSP00000307298:H218L	H	+	2	0	FEM1B	66369403	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	9.072000	0.93986	2.194000	0.70268	0.454000	0.30748	CAT	FEM1B	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000169018		0.468	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	181	0.00	0	A			68582349	68582349	+1	no_errors	ENST00000306917	ensembl	human	known	69_37n	missense	113	28.75	46	SNP	1.000	T
IFNA14	3448	genome.wustl.edu	37	9	21239924	21239924	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr9:21239924G>A	ENST00000380222.2	-	1	54	c.11C>T	c.(10-12)cCc>cTc	p.P4L		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	4					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TAAAGCAAAGGGCAATGCCAT	0.512																																						dbGAP											0													81.0	82.0	82.0					9																	21239924		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.11C>T	9.37:g.21239924G>A	ENSP00000369571:p.Pro4Leu		Q5VZ56|Q7M4S1	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.P4L	ENST00000380222.2	37	c.11	CCDS6501.1	9	.	.	.	.	.	.	.	.	.	.	g	2.916	-0.224187	0.06061	.	.	ENSG00000228083	ENST00000380222	T	0.02682	4.2	3.42	-2.7	0.06004	.	1.368490	0.04613	N	0.400673	T	0.02156	0.0067	N	0.25245	0.725	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.48127	-0.9062	10	0.19147	T	0.46	.	5.0748	0.14625	0.4179:0.1515:0.4306:0.0	.	4	P01570	IFN14_HUMAN	L	4	ENSP00000369571:P4L	ENSP00000369571:P4L	P	-	2	0	IFNA14	21229924	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.130000	0.03241	-0.338000	0.08413	0.404000	0.27445	CCC	IFNA14	-	pfam_Interferon_alpha/beta/delta	ENSG00000228083		0.512	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA14	HGNC	protein_coding	OTTHUMT00000051894.1	182	0.00	0	G	NM_002172		21239924	21239924	-1	no_errors	ENST00000380222	ensembl	human	known	69_37n	missense	116	32.56	56	SNP	0.000	A
L3MBTL1	26013	genome.wustl.edu	37	20	42169439	42169439	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr20:42169439G>A	ENST00000427442.2	+	21	2471	c.2312G>A	c.(2311-2313)cGc>cAc	p.R771H	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.R703H|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.R708H|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.R703H|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.R771H			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	703					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GACCAAGCACGCCTCTTCAAA	0.562																																						dbGAP											0													109.0	83.0	92.0					20																	42169439		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2312G>A	20.37:g.42169439G>A	ENSP00000402107:p.Arg771His		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt	p.R771H	ENST00000427442.2	37	c.2312	CCDS46602.2	20	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247012	0.80024	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.49432	2.13;2.13;2.09;2.1;2.05;0.78	4.79	2.57	0.30868	.	0.418231	0.22792	N	0.055586	T	0.47135	0.1429	L	0.43646	1.37	0.31738	N	0.636169	D;P;D;D;D	0.64830	0.965;0.843;0.994;0.989;0.98	P;P;P;P;P	0.54140	0.656;0.537;0.706;0.743;0.541	T	0.55515	-0.8129	10	0.72032	D	0.01	.	6.4178	0.21725	0.3389:0.0:0.6611:0.0	.	771;355;91;703;703	Q9Y468-5;Q9Y468-3;Q6ZWF5;Q9Y468-2;Q9Y468-1	.;.;.;.;.	H	771;771;703;703;708;489;355	ENSP00000402107:R771H;ENSP00000398516:R771H;ENSP00000362227:R703H;ENSP00000403316:R703H;ENSP00000362226:R708H;ENSP00000410139:R489H	ENSP00000362225:R355H	R	+	2	0	L3MBTL1	41602853	0.986000	0.35501	0.995000	0.50966	0.980000	0.70556	3.386000	0.52492	0.999000	0.39023	0.557000	0.71058	CGC	L3MBTL1	-	superfamily_SAM/pointed	ENSG00000185513		0.562	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	61	0.00	0	G	NM_032107		42169439	42169439	+1	no_errors	ENST00000418998	ensembl	human	known	69_37n	missense	54	20.59	14	SNP	0.988	A
LDB2	9079	genome.wustl.edu	37	4	16504398	16504398	+	Silent	SNP	C	C	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr4:16504398C>T	ENST00000304523.5	-	8	1313	c.990G>A	c.(988-990)gcG>gcA	p.A330A	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Silent_p.A328A|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	330	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGCCGTTGGCCGCATCATATT	0.527																																						dbGAP											0													240.0	211.0	221.0					4																	16504398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.990G>A	4.37:g.16504398C>T			O60619|O75480	Missense_Mutation	SNP	NULL	p.R251Q	ENST00000304523.5	37	c.752	CCDS3420.1	4	.	.	.	.	.	.	.	.	.	.	C	7.101	0.574050	0.13623	.	.	ENSG00000169744	ENST00000507464	.	.	.	5.48	2.39	0.29439	.	.	.	.	.	T	0.52386	0.1731	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42882	-0.9425	4	.	.	.	-10.8173	5.1999	0.15258	0.0:0.4504:0.0:0.5496	.	.	.	.	Q	251	.	.	R	-	2	0	LDB2	16113496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.691000	0.25467	0.679000	0.31345	0.655000	0.94253	CGG	LDB2	-	NULL	ENSG00000169744		0.527	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	240	0.00	0	C			16504398	16504398	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000507464	ensembl	human	novel	69_37n	missense	200	17.96	44	SNP	1.000	T
LEPR	3953	genome.wustl.edu	37	1	66083718	66083718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr1:66083718delC	ENST00000349533.6	+	16	2469	c.2284delC	c.(2284-2286)cccfs	p.P762fs	LEPR_ENST00000371059.3_Frame_Shift_Del_p.P762fs|LEPR_ENST00000371060.3_Frame_Shift_Del_p.P762fs|LEPR_ENST00000344610.8_Frame_Shift_Del_p.P762fs|LEPR_ENST00000371058.1_Frame_Shift_Del_p.P762fs|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GATACTATCACCCAGTGATTA	0.328																																						dbGAP											0													94.0	92.0	93.0					1																	66083718		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2284delC	1.37:g.66083718delC	ENSP00000330393:p.Pro762fs		Q6FHL5	Frame_Shift_Del	DEL	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S763fs	ENST00000349533.6	37	c.2284	CCDS631.1	1																																																																																			LEPR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116678		0.328	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	196	0.00	0	C	NM_002303		66083718	66083718	+1	no_errors	ENST00000349533	ensembl	human	known	69_37n	frame_shift_del	146	21.88	42	DEL	0.367	-
LRBA	987	genome.wustl.edu	37	4	151412073	151412073	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr4:151412073T>A	ENST00000357115.3	-	42	6721	c.6478A>T	c.(6478-6480)Aga>Tga	p.R2160*	LRBA_ENST00000535741.1_Nonsense_Mutation_p.R2149*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.R2149*|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Nonsense_Mutation_p.R2149*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2160						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACATTACCTCTGTTTGCCATA	0.358																																						dbGAP											0													96.0	88.0	91.0					4																	151412073		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6478A>T	4.37:g.151412073T>A	ENSP00000349629:p.Arg2160*		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.R2160*	ENST00000357115.3	37	c.6478	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	T	49	15.561291	0.99838	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.24	0.73461	0.0:0.0:0.0:1.0	.	.	.	.	X	2149;2149;2160;2149	.	ENSP00000349629:R2160X	R	-	1	2	LRBA	151631523	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.975000	0.63777	2.067000	0.61834	0.455000	0.32223	AGA	LRBA	-	NULL	ENSG00000198589		0.358	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	140	0.00	0	T			151412073	151412073	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	nonsense	105	32.69	51	SNP	1.000	A
LRIG3	121227	genome.wustl.edu	37	12	59271349	59271349	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr12:59271349C>T	ENST00000320743.3	-	15	2655	c.2369G>A	c.(2368-2370)tGc>tAc	p.C790Y	LRIG3_ENST00000379141.4_Missense_Mutation_p.C730Y	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	790					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGGGAGTCGCAGGTTGGAGT	0.552			T	ROS1	NSCLC																																	dbGAP		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													164.0	116.0	132.0					12																	59271349		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2369G>A	12.37:g.59271349C>T	ENSP00000326759:p.Cys790Tyr		Q6UXL7|Q8NC72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.C790Y	ENST00000320743.3	37	c.2369	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369607	0.61624	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.61274	0.17;0.12	5.59	5.59	0.84812	.	0.000000	0.40469	N	0.001100	T	0.78020	0.4218	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.993;0.996	T	0.77032	-0.2738	9	.	.	.	.	19.961	0.97250	0.0:1.0:0.0:0.0	.	730;790	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	Y	730;790	ENSP00000368436:C730Y;ENSP00000326759:C790Y	.	C	-	2	0	LRIG3	57557616	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	7.750000	0.85110	2.783000	0.95769	0.655000	0.94253	TGC	LRIG3	-	NULL	ENSG00000139263		0.552	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	94	0.00	0	C	NM_153377		59271349	59271349	-1	no_errors	ENST00000320743	ensembl	human	known	69_37n	missense	67	17.28	14	SNP	1.000	T
LRRC30	339291	genome.wustl.edu	37	18	7231362	7231362	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr18:7231362C>G	ENST00000383467.2	+	1	240	c.226C>G	c.(226-228)Ctc>Gtc	p.L76V		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	76										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGTCCAGAAACTCAATCTGTC	0.597																																						dbGAP											0													56.0	59.0	58.0					18																	7231362		1958	4159	6117	-	-	-	SO:0001583	missense	0				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.226C>G	18.37:g.7231362C>G	ENSP00000372959:p.Leu76Val			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L76V	ENST00000383467.2	37	c.226	CCDS42409.1	18	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904018	0.92035	.	.	ENSG00000206422	ENST00000383467	T	0.56103	0.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	M	0.77313	2.365	0.51012	D	0.999905	D	0.89917	1.0	D	0.87578	0.998	T	0.76990	-0.2754	10	0.87932	D	0	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	76	A6NM36	LRC30_HUMAN	V	76	ENSP00000372959:L76V	ENSP00000372959:L76V	L	+	1	0	LRRC30	7221362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.410000	0.59774	2.827000	0.97445	0.650000	0.86243	CTC	LRRC30	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000206422		0.597	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	HGNC	protein_coding	OTTHUMT00000442140.1	70	0.00	0	C	XM_292678		7231362	7231362	+1	no_errors	ENST00000383467	ensembl	human	known	69_37n	missense	255	12.97	38	SNP	1.000	G
LRRK1	79705	genome.wustl.edu	37	15	101593282	101593283	+	Frame_Shift_Ins	INS	-	-	T	rs539324349		TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr15:101593282_101593283insT	ENST00000388948.3	+	25	4204_4205	c.3845_3846insT	c.(3844-3849)aacgtafs	p.V1283fs	LRRK1_ENST00000284395.5_Frame_Shift_Ins_p.V1280fs|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACTTTGCTAACGTACCGGCAG	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	Exception_encountered	15.37:g.101593282_101593283insT	ENSP00000373600:p.Val1283fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.V1283fs	ENST00000388948.3	37	c.3845_3846	CCDS42086.1	15																																																																																			LRRK1	-	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	ENSG00000154237		0.594	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	16	0.00	0	-	NM_024652		101593282	101593283	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	frame_shift_ins	9	59.09	13	INS	0.007:0.000	T
METRNL	284207	genome.wustl.edu	37	17	81052054	81052054	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr17:81052054G>A	ENST00000320095.7	+	4	795	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	METRNL_ENST00000571814.1_Missense_Mutation_p.A142T|METRNL_ENST00000570778.1_Missense_Mutation_p.A142T|METRNL_ENST00000571940.1_3'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	224					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCAGGACTCAGCCATCCACCT	0.647																																						dbGAP											0													73.0	71.0	72.0					17																	81052054		2203	4295	6498	-	-	-	SO:0001583	missense	0			AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.670G>A	17.37:g.81052054G>A	ENSP00000315731:p.Ala224Thr		B3KSJ5|Q86VM0	Missense_Mutation	SNP	NULL	p.A224T	ENST00000320095.7	37	c.670	CCDS32779.1	17	.	.	.	.	.	.	.	.	.	.	G	8.016	0.758614	0.15846	.	.	ENSG00000176845	ENST00000320095	T	0.29655	1.56	5.12	3.1	0.35709	.	0.611605	0.17058	U	0.188649	T	0.16514	0.0397	N	0.19112	0.55	0.09310	N	0.99999	B	0.16802	0.019	B	0.14578	0.011	T	0.22626	-1.0211	9	.	.	.	-11.6962	5.9609	0.19299	0.1728:0.1558:0.6714:0.0	.	224	Q641Q3	METRL_HUMAN	T	224	ENSP00000315731:A224T	.	A	+	1	0	METRNL	78645474	0.000000	0.05858	0.525000	0.27900	0.020000	0.10135	-0.081000	0.11321	0.665000	0.31066	0.561000	0.74099	GCC	METRNL	-	NULL	ENSG00000176845		0.647	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METRNL	HGNC	protein_coding	OTTHUMT00000438902.1	14	0.00	0	G	NM_001004431		81052054	81052054	+1	no_errors	ENST00000320095	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.436	A
MMP13	4322	genome.wustl.edu	37	11	102826428	102826428	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr11:102826428G>T	ENST00000260302.3	-	1	35	c.7C>A	c.(7-9)Cca>Aca	p.P3T	MMP13_ENST00000340273.4_Missense_Mutation_p.P3T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	3					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AGGACCCCTGGATGCATCTTG	0.507																																						dbGAP											0													89.0	91.0	90.0					11																	102826428		2202	4299	6501	-	-	-	SO:0001583	missense	0			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.7C>A	11.37:g.102826428G>T	ENSP00000260302:p.Pro3Thr		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.P3T	ENST00000260302.3	37	c.7	CCDS8324.1	11	.	.	.	.	.	.	.	.	.	.	G	1.905	-0.452048	0.04540	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.15017	2.65;2.46	5.78	0.535	0.17133	.	2.032770	0.01644	N	0.024238	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26121	-1.0112	10	0.41790	T	0.15	.	5.6819	0.17780	0.405:0.0:0.4722:0.1228	.	3	P45452	MMP13_HUMAN	T	3	ENSP00000260302:P3T;ENSP00000339672:P3T	ENSP00000260302:P3T	P	-	1	0	MMP13	102331638	0.388000	0.25197	0.000000	0.03702	0.021000	0.10359	0.365000	0.20348	0.123000	0.18342	0.591000	0.81541	CCA	MMP13	-	pirsf_Pept_M10A_matrix_strom	ENSG00000137745		0.507	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	HGNC	protein_coding	OTTHUMT00000386648.1	127	0.78	1	G	NM_002427		102826428	102826428	-1	no_errors	ENST00000340273	ensembl	human	novel	69_37n	missense	54	42.71	41	SNP	0.000	T
MYCL	4610	genome.wustl.edu	37	1	40363231	40363231	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr1:40363231G>A	ENST00000372816.2	-	2	1355	c.908C>T	c.(907-909)gCg>gTg	p.A303V	MYCL_ENST00000397332.2_Missense_Mutation_p.A333V|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	303	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTCCCTCAGCGCCAAGAATCG	0.572																																						dbGAP											0													70.0	70.0	70.0					1																	40363231		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.908C>T	1.37:g.40363231G>A	ENSP00000361903:p.Ala303Val		A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc	p.A303V	ENST00000372816.2	37	c.908	CCDS30682.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101321	0.76983	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	D;D	0.97959	-4.63;-4.63	5.75	5.75	0.90469	Helix-loop-helix DNA-binding (5);	0.110931	0.64402	D	0.000011	D	0.98422	0.9475	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99556	1.0967	10	0.72032	D	0.01	-29.8682	19.9598	0.97242	0.0:0.0:1.0:0.0	.	303	P12524	MYCL1_HUMAN	V	333;303	ENSP00000380494:A333V;ENSP00000361903:A303V	ENSP00000361903:A303V	A	-	2	0	MYCL1	40135818	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.876000	0.87215	2.716000	0.92895	0.655000	0.94253	GCG	MYCL1	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc	ENSG00000116990		0.572	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYCL1	HGNC	protein_coding	OTTHUMT00000277004.1	112	0.00	0	G	NM_001033082		40363231	40363231	-1	no_errors	ENST00000372816	ensembl	human	known	69_37n	missense	50	30.56	22	SNP	1.000	A
NR3C2	4306	genome.wustl.edu	37	4	149357669	149357669	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr4:149357669G>A	ENST00000358102.3	-	2	706	c.344C>T	c.(343-345)gCt>gTt	p.A115V	NR3C2_ENST00000511528.1_Missense_Mutation_p.A115V|NR3C2_ENST00000344721.4_Missense_Mutation_p.A115V|NR3C2_ENST00000512865.1_Missense_Mutation_p.A115V|NR3C2_ENST00000355292.3_Missense_Mutation_p.A115V	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	115	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GGAATAGTCAGCATCTCTTAC	0.388																																					Melanoma(27;428 957 40335 51025 51111)	dbGAP											0													97.0	95.0	96.0					4																	149357669		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.344C>T	4.37:g.149357669G>A	ENSP00000350815:p.Ala115Val		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A115V	ENST00000358102.3	37	c.344	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609770	0.46527	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.92965	-3.13;-3.14;-3.13;-2.79;-2.73;-3.14	5.82	5.82	0.92795	.	0.085601	0.49916	D	0.000128	D	0.90765	0.7101	L	0.53249	1.67	0.58432	D	0.999999	P;P	0.40066	0.457;0.701	B;B	0.38985	0.287;0.21	D	0.89259	0.3596	9	.	.	.	.	19.693	0.96009	0.0:0.0:1.0:0.0	.	115;115	B0ZBF5;B0ZBF6	.;.	V	115	ENSP00000341390:A115V;ENSP00000347441:A115V;ENSP00000350815:A115V;ENSP00000423510:A115V;ENSP00000343907:A115V;ENSP00000421481:A115V	.	A	-	2	0	NR3C2	149577119	1.000000	0.71417	0.944000	0.38274	0.629000	0.37895	9.398000	0.97281	2.761000	0.94854	0.591000	0.81541	GCT	NR3C2	-	NULL	ENSG00000151623		0.388	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	296	0.00	0	G			149357669	149357669	-1	no_errors	ENST00000355292	ensembl	human	known	69_37n	missense	207	27.87	80	SNP	1.000	A
NUPL1	9818	genome.wustl.edu	37	13	25905699	25905699	+	Intron	SNP	C	C	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr13:25905699C>T	ENST00000381736.3	+	13	1685				NUPL1_ENST00000466694.1_Intron|NUPL1_ENST00000381718.3_Intron|NUPL1_ENST00000463407.1_Silent_p.L480L	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TGCTACAGGTCTGAACGCATT	0.448																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	dbGAP											0													68.0	59.0	62.0					13																	25905699		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1435+3C>T	13.37:g.25905699C>T			A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Silent	SNP	NULL	p.L480	ENST00000381736.3	37	c.1438	CCDS9314.1	13																																																																																			NUPL1	-	NULL	ENSG00000139496		0.448	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	66	0.00	0	C			25905699	25905699	+1	no_errors	ENST00000463407	ensembl	human	known	69_37n	silent	29	43.14	22	SNP	1.000	T
PDE4DIP	9659	genome.wustl.edu	37	1	144879284	144879284	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr1:144879284G>A	ENST00000369354.3	-	27	4355	c.4166C>T	c.(4165-4167)tCg>tTg	p.S1389L	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1525L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1389L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1345L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1525L|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1389					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGACTAGACGAATAATCACT	0.517			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													102.0	112.0	108.0					1																	144879284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4166C>T	1.37:g.144879284G>A	ENSP00000358360:p.Ser1389Leu		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S1389L	ENST00000369354.3	37	c.4166	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815826	0.70912	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.8;4.8;4.81;4.8	5.55	5.55	0.83447	.	.	.	.	.	T	0.01627	0.0052	L	0.51422	1.61	0.80722	D	1	D;D	0.56287	0.975;0.966	B;B	0.41946	0.371;0.222	T	0.61667	-0.7016	9	0.87932	D	0	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	1345;1389	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	L	1345;1389;1389;1525;1525	ENSP00000327209:S1345L;ENSP00000358360:S1389L;ENSP00000358363:S1389L;ENSP00000435654:S1525L;ENSP00000358366:S1525L	ENSP00000327209:S1345L	S	-	2	0	PDE4DIP	143590641	1.000000	0.71417	0.999000	0.59377	0.720000	0.41350	8.768000	0.91737	2.616000	0.88540	0.591000	0.81541	TCG	PDE4DIP	-	NULL	ENSG00000178104		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	333	0.00	0	G	NM_022359		144879284	144879284	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	244	18.33	55	SNP	1.000	A
PRKCB	5579	genome.wustl.edu	37	16	24192242	24192242	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr16:24192242C>T	ENST00000321728.7	+	13	1701	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	PRKCB_ENST00000303531.7_Missense_Mutation_p.A509V	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	509	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GACTACATCGCCCCCGAGGTG	0.547																																						dbGAP											0													134.0	122.0	126.0					16																	24192242		2197	4300	6497	-	-	-	SO:0001583	missense	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1526C>T	16.37:g.24192242C>T	ENSP00000318315:p.Ala509Val		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.A509V	ENST00000321728.7	37	c.1526	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.786374	0.96937	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.53640	0.61;0.61	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82779	0.5111	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89286	0.3615	10	0.87932	D	0	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	509;509	P05771-2;P05771	.;KPCB_HUMAN	V	509	ENSP00000318315:A509V;ENSP00000305355:A509V	ENSP00000305355:A509V	A	+	2	0	PRKCB	24099743	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GCC	PRKCB	-	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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom	ENSG00000166501		0.547	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	93	0.00	0	C	NM_212535		24192242	24192242	+1	no_errors	ENST00000303531	ensembl	human	known	69_37n	missense	55	30.38	24	SNP	1.000	T
RCC1	1104	genome.wustl.edu	37	1	28856409	28856410	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr1:28856409_28856410insC	ENST00000373833.6	+	5	316_317	c.31_32insC	c.(31-33)tccfs	p.S11fs	RCC1_ENST00000398958.2_Frame_Shift_Ins_p.S11fs|RCC1_ENST00000373831.3_Frame_Shift_Ins_p.S11fs|RCC1_ENST00000373832.1_Frame_Shift_Ins_p.S11fs			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	11					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TAAAAGAAGGTCCCCCCCAGCA	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.38dupC	1.37:g.28856416_28856416dupC	ENSP00000362939:p.Ser11fs		Q16269|Q6NT97	Frame_Shift_Ins	INS	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A14fs	ENST00000373833.6	37	c.31_32	CCDS323.1	1																																																																																			RCC1	-	NULL	ENSG00000180198		0.500	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RCC1	HGNC	protein_coding	OTTHUMT00000010323.3	33	0.00	0	-	NM_001269		28856409	28856410	+1	no_errors	ENST00000373831	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	0.985:0.987	C
ST6GAL2	84620	genome.wustl.edu	37	2	107459975	107459975	+	Silent	SNP	G	G	A	rs142520495		TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr2:107459975G>A	ENST00000409382.3	-	2	1069	c.459C>T	c.(457-459)ccC>ccT	p.P153P	ST6GAL2_ENST00000361686.4_Silent_p.P153P|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.P153P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	153					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.P153P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTGGCTCCCCGGGGGAAGGGA	0.622																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											82.0	99.0	93.0					2																	107459975		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.459C>T	2.37:g.107459975G>A			D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.P153	ENST00000409382.3	37	c.459	CCDS2073.1	2																																																																																			ST6GAL2	-	NULL	ENSG00000144057		0.622	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	67	0.00	0	G	NM_032528		107459975	107459975	-1	no_errors	ENST00000361686	ensembl	human	known	69_37n	silent	22	48.89	22	SNP	0.000	A
SPHKAP	80309	genome.wustl.edu	37	2	228996728	228996728	+	Missense_Mutation	SNP	C	C	T	rs200749427		TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr2:228996728C>T	ENST00000392056.3	-	2	152	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G36S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	36						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCCCCGGGCCGCTTCCTGAG	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16013	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													83.0	90.0	88.0					2																	228996728		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.106G>A	2.37:g.228996728C>T	ENSP00000375909:p.Gly36Ser		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.G36S	ENST00000392056.3	37	c.106	CCDS46537.1	2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.081	-1.184128	0.01620	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.62232	0.04;0.04	5.93	-2.72	0.05968	.	0.502393	0.20282	N	0.095429	T	0.25457	0.0619	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32745	-0.9895	10	0.02654	T	1	.	6.3488	0.21365	0.0:0.3913:0.1395:0.4692	.	36;36	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	S	36	ENSP00000375909:G36S;ENSP00000339886:G36S	ENSP00000339886:G36S	G	-	1	0	SPHKAP	228704972	0.990000	0.36364	0.017000	0.16124	0.029000	0.11900	0.049000	0.14099	-0.638000	0.05509	-0.290000	0.09829	GGC	SPHKAP	-	NULL	ENSG00000153820		0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	120	0.00	0	C	NM_030623		228996728	228996728	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	79	22.55	23	SNP	0.129	T
TAF1L	138474	genome.wustl.edu	37	9	32634836	32634836	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr9:32634836C>T	ENST00000242310.4	-	1	831	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	248					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAAAAGTTCGGTGACACTT	0.488																																						dbGAP											0													134.0	123.0	127.0					9																	32634836		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.742G>A	9.37:g.32634836C>T	ENSP00000418379:p.Glu248Lys		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E248K	ENST00000242310.4	37	c.742	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742382	0.49151	.	.	ENSG00000122728	ENST00000242310	T	0.08984	3.03	1.04	1.04	0.20106	.	0.049823	0.85682	D	0.000000	T	0.07369	0.0186	M	0.66297	2.02	0.40397	D	0.979615	P	0.37612	0.602	B	0.25614	0.062	T	0.26224	-1.0109	10	0.44086	T	0.13	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	248	Q8IZX4	TAF1L_HUMAN	K	248	ENSP00000418379:E248K	ENSP00000418379:E248K	E	-	1	0	TAF1L	32624836	0.989000	0.36119	0.984000	0.44739	0.571000	0.35966	2.391000	0.44424	0.507000	0.28148	0.195000	0.17529	GAA	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	178	0.00	0	C			32634836	32634836	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	118	30.81	53	SNP	1.000	T
TRIM73	375593	genome.wustl.edu	37	7	75028599	75028599	+	Missense_Mutation	SNP	G	G	A	rs199603365		TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr7:75028599G>A	ENST00000437796.1	+	1	401	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TRIM73_ENST00000323819.3_Missense_Mutation_p.V128I|TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000447409.2_Missense_Mutation_p.V128I|TRIM73_ENST00000430211.1_Missense_Mutation_p.V128I			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGTCTCCACCGTCTGCAGCCG	0.672																																						dbGAP											0													1.0	2.0	2.0					7																	75028599		319	1397	1716	-	-	-	SO:0001583	missense	0			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.382G>A	7.37:g.75028599G>A	ENSP00000417040:p.Val128Ile		Q8N0S3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.V128I	ENST00000437796.1	37	c.382	CCDS34665.1	7	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960623	0.53400	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.31	2.31	0.28768	.	0.119478	0.36519	N	0.002554	T	0.32912	0.0845	N	0.24115	0.695	0.25573	N	0.986874	P;P	0.50156	0.932;0.932	B;B	0.36845	0.234;0.234	T	0.32295	-0.9912	10	0.46703	T	0.11	.	12.185	0.54234	0.0:0.0:1.0:0.0	.	128;128	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	I	128	ENSP00000318615:V128I;ENSP00000410121:V128I;ENSP00000407135:V128I;ENSP00000417040:V128I	ENSP00000318615:V128I	V	+	1	0	TRIM73	74866535	0.378000	0.25114	1.000000	0.80357	0.868000	0.49771	2.680000	0.46918	1.612000	0.50221	0.400000	0.26472	GTC	TRIM73	-	NULL	ENSG00000178809		0.672	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	HGNC	protein_coding	OTTHUMT00000342950.1	11	0.00	0	G			75028599	75028599	+1	no_errors	ENST00000323819	ensembl	human	known	69_37n	missense	2	71.43	5	SNP	1.000	A
VEZF1	7716	genome.wustl.edu	37	17	56060288	56060288	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr17:56060288C>G	ENST00000581208.1	-	2	540	c.500G>C	c.(499-501)aGt>aCt	p.S167T	VEZF1_ENST00000584396.1_Missense_Mutation_p.S158T	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	167					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GACAGGCTTACTGGGTTTCTT	0.512																																						dbGAP											0													83.0	62.0	69.0					17																	56060288		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.500G>C	17.37:g.56060288C>G	ENSP00000462337:p.Ser167Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S167T	ENST00000581208.1	37	c.500	CCDS32687.1	17	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865151	0.32977	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.48	5.48	0.80851	.	0.126250	0.64402	D	0.000001	T	0.40067	0.1102	N	0.14661	0.345	0.45415	D	0.998394	P	0.44090	0.826	B	0.40782	0.34	T	0.24225	-1.0166	9	0.28530	T	0.3	-5.8138	19.3617	0.94442	0.0:1.0:0.0:0.0	.	167	Q14119	VEZF1_HUMAN	T	167	.	ENSP00000258963:S167T	S	-	2	0	VEZF1	53415287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.140000	0.71738	2.590000	0.87494	0.643000	0.83706	AGT	VEZF1	-	NULL	ENSG00000136451		0.512	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VEZF1	HGNC	protein_coding	OTTHUMT00000443321.1	84	0.00	0	C			56060288	56060288	-1	no_errors	ENST00000581208	ensembl	human	known	69_37n	missense	26	60.61	40	SNP	1.000	G
ZNF705E	100131539	genome.wustl.edu	37	11	71530725	71530725	+	RNA	SNP	C	C	T			TCGA-BH-A0HB-01A-11W-A071-09	TCGA-BH-A0HB-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ed5f1077-62c1-43d8-8a27-56521bbdd8a5	209f788f-fd3c-4b14-9e9e-c6d0be240654	g.chr11:71530725C>T	ENST00000525199.1	-	0	176							A8MWA4	Z705E_HUMAN	zinc finger protein 705E						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTCCAGCATCACATCTCTGT	0.428																																						dbGAP											0																																										-	-	-			0					11q13.4	2013-04-03			ENSG00000214534	ENSG00000214534			33203	other	unknown							Standard	NM_001278713		Approved			A8MWA4	OTTHUMG00000167482		11.37:g.71530725C>T				RNA	SNP	-	NULL	ENST00000525199.1	37	NULL		11																																																																																			ZNF705E	-	-	ENSG00000214534		0.428	ZNF705E-002	KNOWN	basic	processed_transcript	ZNF705E	HGNC	pseudogene	OTTHUMT00000394768.1	213	0.00	0	C			71530725	71530725	-1	no_errors	ENST00000525199	ensembl	human	known	69_37n	rna	266	27.84	103	SNP	0.942	T
