#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
APOB	338	hgsc.bcm.edu	37	2	21237962	21237962	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:21237962C>T	ENST00000233242.1	-	23	3806	c.3679G>A	c.(3679-3681)Ggt>Agt	p.G1227S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1227					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.G1227S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTTGGAACCCACGTGCCGG	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											101.0	102.0	102.0					2																	21237962		2203	4300	6503	21091467	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3679G>A	2.37:g.21237962C>T	ENSP00000233242:p.Gly1227Ser		21091467	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.045997	0.55110	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00705	5.81	5.48	4.61	0.57282	.	0.104858	0.41712	D	0.000829	T	0.01254	0.0041	M	0.65975	2.015	0.80722	D	1	P	0.35507	0.506	B	0.26864	0.074	T	0.62982	-0.6738	10	0.59425	D	0.04	.	13.7642	0.62983	0.0:0.9262:0.0:0.0738	.	1227	P04114	APOB_HUMAN	S	1227	ENSP00000233242:G1227S	ENSP00000233242:G1227S	G	-	1	0	APOB	21091467	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.282000	0.43461	1.483000	0.48342	0.650000	0.86243	GGT		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
AQP3	360	hgsc.bcm.edu	37	9	33442355	33442356	+	Frame_Shift_Ins	INS	-	-	A	rs539666664		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr9:33442355_33442356insA	ENST00000297991.4	-	5	733_734	c.653_654insT	c.(652-654)cggfs	p.R218fs	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	218					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.D219fs*>75(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGCCAAAGTCCCGGGCAGGGTT	0.668																																																1	Insertion - Frameshift(1)	ovary(1)	9																																								33432356	SO:0001589	frameshift_variant	360				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.653_654insT	9.37:g.33442355_33442356insA	ENSP00000297991:p.Arg218fs		33432355	A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Frame_Shift_Ins	INS	ENST00000297991.4	37	CCDS6542.1																																																																																				0.668	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925	
ATP10A	57194	hgsc.bcm.edu	37	15	25924920	25924921	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr15:25924920_25924921insAA	ENST00000356865.6	-	21	4178_4179	c.4067_4068insTT	c.(4066-4068)cacfs	p.H1356fs		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1356					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T1357fs*20(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGCTGTGTGTGCCAAGAAGG	0.649																																																1	Insertion - Frameshift(1)	ovary(1)	15																																								23476014	SO:0001589	frameshift_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4067_4068insTT	15.37:g.25924920_25924921insAA	ENSP00000349325:p.His1356fs		23476013	Q4G0S9|Q969I4	Frame_Shift_Ins	INS	ENST00000356865.6	37	CCDS32178.1																																																																																				0.649	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
C10orf12	26148	hgsc.bcm.edu	37	10	98743852	98743855	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	CTGT	CTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr10:98743852_98743855delCTGT	ENST00000286067.2	+	1	2812_2815	c.2705_2708delCTGT	c.(2704-2709)cctgtcfs	p.PV902fs		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	902								p.V903I(1)|p.V903fs*22(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GACGTTCCCCCTGTCAAGCATCCT	0.446																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(2)	10																																								98733845	SO:0001589	frameshift_variant	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2705_2708delCTGT	10.37:g.98743852_98743855delCTGT	ENSP00000286067:p.Pro902fs		98733842	Q9H945|Q9Y457	Frame_Shift_Del	DEL	ENST00000286067.2	37	CCDS7452.1																																																																																				0.446	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
CDC27	996	hgsc.bcm.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323																																																1	Deletion - Frameshift(1)	ovary(1)	17											84.0	94.0	91.0					17																	45247389		2203	4299	6502	42602388	SO:0001589	frameshift_variant	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs		42602388	G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CHD4	1108	hgsc.bcm.edu	37	12	6704527	6704527	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr12:6704527C>A	ENST00000357008.2	-	14	2257	c.2094G>T	c.(2092-2094)gaG>gaT	p.E698D	CHD4_ENST00000544040.1_Missense_Mutation_p.E691D|CHD4_ENST00000544484.1_Missense_Mutation_p.E695D|CHD4_ENST00000309577.6_Missense_Mutation_p.E698D	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	698					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.E698D(1)		central_nervous_system(2)	2						CTGGAGGCCTCTCCAACTTCC	0.502																																					Colon(32;586 792 4568 16848 45314)											1	Substitution - Missense(1)	ovary(1)	12											179.0	143.0	155.0					12																	6704527		2203	4300	6503	6574788	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2094G>T	12.37:g.6704527C>A	ENSP00000349508:p.Glu698Asp		6574788	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	9.313	1.056093	0.19907	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90844	-2.73;-2.73;-2.73;-2.74	5.83	4.0	0.46444	.	0.123212	0.53938	D	0.000043	T	0.80071	0.4556	N	0.17723	0.515	0.39095	D	0.961171	B;B;P	0.35612	0.011;0.0;0.512	B;B;B	0.32762	0.01;0.002;0.152	T	0.74166	-0.3753	10	0.15952	T	0.53	-2.4798	9.1628	0.37032	0.0:0.7741:0.0:0.2259	.	698;698;691	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	D	695;691;698;698;672	ENSP00000440392:E695D;ENSP00000440542:E691D;ENSP00000312419:E698D;ENSP00000349508:E698D	ENSP00000312419:E698D	E	-	3	2	CHD4	6574788	0.997000	0.39634	0.996000	0.52242	0.592000	0.36648	1.183000	0.32041	0.802000	0.34089	0.655000	0.94253	GAG		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
CSRNP1	64651	hgsc.bcm.edu	37	3	39186582	39186582	+	Missense_Mutation	SNP	G	G	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:39186582G>T	ENST00000273153.5	-	3	548	c.371C>A	c.(370-372)tCt>tAt	p.S124Y	CSRNP1_ENST00000514182.1_Missense_Mutation_p.S124Y	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	124					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S124Y(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTCAGCCAAAGAGAAGCGACG	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											70.0	62.0	65.0					3																	39186582		2203	4300	6503	39161586	SO:0001583	missense	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.371C>A	3.37:g.39186582G>T	ENSP00000273153:p.Ser124Tyr		39161586	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933237	0.73442	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.13538	2.58;2.58	5.14	5.14	0.70334	.	0.053994	0.64402	D	0.000001	T	0.36663	0.0975	M	0.62723	1.935	0.58432	D	0.999991	D	0.76494	0.999	D	0.70935	0.971	T	0.08638	-1.0712	10	0.87932	D	0	-35.4696	18.9945	0.92807	0.0:0.0:1.0:0.0	.	124	Q96S65	CSRN1_HUMAN	Y	124	ENSP00000273153:S124Y;ENSP00000422532:S124Y	ENSP00000273153:S124Y	S	-	2	0	CSRNP1	39161586	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	7.873000	0.87193	2.563000	0.86464	0.561000	0.74099	TCT		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	
DAAM1	23002	hgsc.bcm.edu	37	14	59797938	59797940	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	TGC	TGC	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:59797938_59797940delTGC	ENST00000395125.1	+	13	1595_1597	c.1572_1574delTGC	c.(1570-1575)tgtgct>tgt	p.A525del	DAAM1_ENST00000360909.3_In_Frame_Del_p.A525del|DAAM1_ENST00000351081.1_In_Frame_Del_p.A525del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	525					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.A525delA(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGGCCGTCTGTGCTTCAATCCCA	0.483																																																1	Deletion - In frame(1)	ovary(1)	14																																								58867693	SO:0001651	inframe_deletion	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1572_1574delTGC	14.37:g.59797938_59797940delTGC	ENSP00000378557:p.Ala525del		58867691	Q86U34|Q8N1Z8|Q8TB39	In_Frame_Del	DEL	ENST00000395125.1	37	CCDS9737.1																																																																																				0.483	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
DAD1	1603	hgsc.bcm.edu	37	14	23044008	23044010	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	CAA	CAA	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:23044008_23044010delCAA	ENST00000250498.4	-	2	446_448	c.335_337delTTG	c.(334-339)gttggc>ggc	p.V112del	DAD1_ENST00000543337.1_In_Frame_Del_p.V84del|DAD1_ENST00000538631.1_Intron|DAD1_ENST00000489532.2_5'Flank	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	112					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.V112delV(1)		large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		ATGAGTCAGCCAACAAAGTTCAT	0.419																																																1	Deletion - In frame(1)	ovary(1)	14																																								22113850	SO:0001651	inframe_deletion	1603			AK223129	CCDS9571.1	14q11.2	2013-03-06			ENSG00000129562	ENSG00000129562			2664	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 2 homolog (S. cerevisiae)"", ""oligosaccharyltransferase subunit 2 (non-catalytic)"""	600243					Standard	NM_001344		Approved	OST2	uc001wgl.2	P61803	OTTHUMG00000028685	ENST00000250498.4:c.335_337delTTG	14.37:g.23044011_23044013delCAA	ENSP00000250498:p.Val112del		22113848	D3DS25|O08552|O70364|P46966|P46968|Q6FGA3|Q96GB7	In_Frame_Del	DEL	ENST00000250498.4	37	CCDS9571.1																																																																																				0.419	DAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071617.2	NM_001344	
EXTL3	2137	hgsc.bcm.edu	37	8	28574118	28574119	+	In_Frame_Ins	INS	-	-	CCATGT			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr8:28574118_28574119insCCATGT	ENST00000220562.4	+	3	1444_1445	c.542_543insCCATGT	c.(541-546)aactgc>aaCCATGTctgc	p.181_182NC>NHVC	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	181					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.N181_C182insHV(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGCTACACAACTGCTTTGATT	0.594																																																1	Insertion - In frame(1)	ovary(1)	8																																								28630038	SO:0001652	inframe_insertion	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	Exception_encountered	8.37:g.28574118_28574119insCCATGT	ENSP00000220562:p.Asn181_Cys182insHisVal		28630037	D3DST8|O00225|Q53XT3	In_Frame_Ins	INS	ENST00000220562.4	37	CCDS6070.1																																																																																				0.594	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
FURIN	5045	hgsc.bcm.edu	37	15	91424681	91424681	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr15:91424681G>A	ENST00000268171.3	+	16	2237	c.1958G>A	c.(1957-1959)gGg>gAg	p.G653E	FES_ENST00000414248.2_5'Flank|FES_ENST00000328850.3_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	653					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G653E(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACATGCCAGGGGCCGGCCCTG	0.667																																																1	Substitution - Missense(1)	ovary(1)	15											38.0	40.0	39.0					15																	91424681		2196	4294	6490	89225685	SO:0001583	missense	5045			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1958G>A	15.37:g.91424681G>A	ENSP00000268171:p.Gly653Glu		89225685	Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853889	0.91355	.	.	ENSG00000140564	ENST00000268171	T	0.35973	1.28	5.02	5.02	0.67125	Growth factor, receptor (1);	0.100948	0.64402	D	0.000002	T	0.67581	0.2908	M	0.89658	3.05	0.58432	D	0.999997	D	0.76494	0.999	D	0.69142	0.962	T	0.76350	-0.2991	10	0.87932	D	0	-33.8562	18.3814	0.90452	0.0:0.0:1.0:0.0	.	653	P09958	FURIN_HUMAN	E	653	ENSP00000268171:G653E	ENSP00000268171:G653E	G	+	2	0	FURIN	89225685	1.000000	0.71417	0.978000	0.43139	0.939000	0.58152	3.712000	0.54875	2.337000	0.79520	0.555000	0.69702	GGG		0.667	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569	
GADD45GIP1	90480	hgsc.bcm.edu	37	19	13065326	13065326	+	Missense_Mutation	SNP	G	G	T	rs148072118		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr19:13065326G>T	ENST00000316939.1	-	2	388	c.365C>A	c.(364-366)gCa>gAa	p.A122E		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	122					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A122E(1)		ovary(2)|prostate(1)|skin(1)	4						CATGCACTCTGCGATGTGCTG	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											54.0	47.0	50.0					19																	13065326		2203	4299	6502	12926326	SO:0001583	missense	90480			AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.365C>A	19.37:g.13065326G>T	ENSP00000323065:p.Ala122Glu		12926326	Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	G	9.600	1.128558	0.21041	.	.	ENSG00000179271	ENST00000316939	.	.	.	4.83	2.55	0.30701	.	0.132676	0.48767	N	0.000166	T	0.29684	0.0741	N	0.26042	0.785	0.19575	N	0.999968	B	0.21753	0.06	B	0.20955	0.032	T	0.21143	-1.0254	9	0.36615	T	0.2	-20.2894	13.2808	0.60212	0.0:0.0:0.6568:0.3432	.	122	Q8TAE8	G45IP_HUMAN	E	122	.	ENSP00000323065:A122E	A	-	2	0	GADD45GIP1	12926326	0.985000	0.35326	0.046000	0.18839	0.703000	0.40648	3.418000	0.52721	1.002000	0.39104	0.558000	0.71614	GCA		0.622	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850	
GLIS2	84662	hgsc.bcm.edu	37	16	4383356	4383357	+	Frame_Shift_Ins	INS	-	-	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr16:4383356_4383357insT	ENST00000262366.3	+	4	1002_1003	c.181_182insT	c.(181-183)ctgfs	p.L61fs	GLIS2_ENST00000433375.1_Frame_Shift_Ins_p.L61fs|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	61	Interaction with CTNND1. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.N62fs*115(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGGCTTCCTGCTGAACTCCAAG	0.619																																																1	Insertion - Frameshift(1)	ovary(1)	16																																								4323358	SO:0001589	frameshift_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.182dupT	16.37:g.4383357_4383357dupT	ENSP00000262366:p.Leu61fs		4323357	B3KX84	Frame_Shift_Ins	INS	ENST00000262366.3	37	CCDS10511.1																																																																																				0.619	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575	
GOLIM4	27333	hgsc.bcm.edu	37	3	167750318	167750318	+	Missense_Mutation	SNP	G	G	T	rs142340864		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:167750318G>T	ENST00000470487.1	-	9	1855	c.1166C>A	c.(1165-1167)gCg>gAg	p.A389E	GOLIM4_ENST00000309027.4_Missense_Mutation_p.A361E	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	389	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A389E(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCAGCACGCGCGTGCCCTTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	3											237.0	197.0	211.0					3																	167750318		2203	4300	6503	169233012	SO:0001583	missense	27333			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1166C>A	3.37:g.167750318G>T	ENSP00000417354:p.Ala389Glu		169233012		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	G	4.368	0.067761	0.08436	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.54	2.76	0.32466	.	1.404780	0.03726	N	0.252712	T	0.33352	0.0860	L	0.54323	1.7	0.09310	N	1	P;P	0.41546	0.754;0.754	B;B	0.43478	0.421;0.421	T	0.27020	-1.0086	9	0.02654	T	1	0.0909	4.038	0.09738	0.2919:0.0:0.4628:0.2453	.	361;389	F8W785;O00461	.;GOLI4_HUMAN	E	389;361	.	ENSP00000309893:A361E	A	-	2	0	GOLIM4	169233012	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.065000	0.14466	0.721000	0.32231	0.555000	0.69702	GCG		0.488	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
GRM5	2915	hgsc.bcm.edu	37	11	88300288	88300288	+	Missense_Mutation	SNP	C	C	T	rs376576529	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr11:88300288C>T	ENST00000305447.4	-	7	2712	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T	GRM5_ENST00000455756.2_Missense_Mutation_p.A855T|GRM5_ENST00000393297.1_Missense_Mutation_p.A855T|GRM5_ENST00000305432.5_Missense_Mutation_p.A855T|GRM5_ENST00000418177.2_Missense_Mutation_p.A855T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	855					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A855T(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTGCTGGCTGCGGAGGATGAC	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		21002	0.002		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	11						C	THR/ALA,THR/ALA	0,4402		0,0,2201	87.0	76.0	80.0		2563,2563	5.7	0.2	11		80	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	GRM5	NM_000842.3,NM_001143831.2	58,58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	855/1181,855/1213	88300288	1,12999	2201	4299	6500	87939936	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2563G>A	11.37:g.88300288C>T	ENSP00000306138:p.Ala855Thr		87939936	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787247	0.70337	0.0	1.16E-4	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88277	-2.34;-2.35;-2.35;-2.34;-2.36	5.71	5.71	0.89125	.	0.095077	0.64402	D	0.000001	D	0.89949	0.6863	L	0.42245	1.32	0.58432	D	0.999996	D;P	0.59767	0.986;0.9	P;B	0.52627	0.704;0.167	D	0.88299	0.2948	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	855;855	P41594-2;P41594	.;GRM5_HUMAN	T	855	ENSP00000402912:A855T;ENSP00000405690:A855T;ENSP00000305905:A855T;ENSP00000306138:A855T;ENSP00000376975:A855T	.	A	-	1	0	GRM5	87939936	1.000000	0.71417	0.233000	0.24025	0.995000	0.86356	4.934000	0.63491	2.709000	0.92574	0.655000	0.94253	GCA		0.567	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
HDAC7	51564	hgsc.bcm.edu	37	12	48180401	48180401	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr12:48180401C>T	ENST00000427332.2	-	22	2578	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	HDAC7_ENST00000080059.7_Missense_Mutation_p.A847T|HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000552960.1_Missense_Mutation_p.A830T|HDAC7_ENST00000380610.4_Missense_Mutation_p.A864T|HDAC7_ENST00000354334.3_Missense_Mutation_p.A810T			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	808	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.A808T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCCAGTGGGGCCGGGTGACCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	12											68.0	62.0	64.0					12																	48180401		2203	4300	6503	46466668	SO:0001583	missense	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2422G>A	12.37:g.48180401C>T	ENSP00000404394:p.Ala808Thr		46466668	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37		.	.	.	.	.	.	.	.	.	.	C	7.270	0.606993	0.14002	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.56941	0.44;0.43;0.44;0.43;0.44	5.11	2.23	0.28157	Histone deacetylase domain (2);	0.339036	0.29924	N	0.010848	T	0.37705	0.1013	L	0.45581	1.43	0.38468	D	0.947408	B;B;B;B	0.18610	0.001;0.029;0.001;0.002	B;B;B;B	0.14023	0.007;0.01;0.003;0.002	T	0.30446	-0.9978	10	0.02654	T	1	.	10.2239	0.43214	0.0:0.4422:0.4665:0.0912	.	808;847;830;810	Q8WUI4;Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	HDAC7_HUMAN;.;.;.	T	847;810;830;864;808	ENSP00000080059:A847T;ENSP00000351326:A810T;ENSP00000448532:A830T;ENSP00000369984:A864T;ENSP00000404394:A808T	ENSP00000080059:A847T	A	-	1	0	HDAC7	46466668	0.489000	0.26004	0.306000	0.25113	0.812000	0.45895	0.859000	0.27858	0.272000	0.22027	0.558000	0.71614	GCC		0.602	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2		
HUWE1	10075	hgsc.bcm.edu	37	X	53577921	53577921	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chrX:53577921T>C	ENST00000342160.3	-	64	9783	c.9326A>G	c.(9325-9327)cAt>cGt	p.H3109R	HUWE1_ENST00000262854.6_Missense_Mutation_p.H3109R|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3109					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.H2999R(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGACGCTCATGCATGAGCTG	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											64.0	46.0	52.0					X																	53577921		2203	4300	6503	53594646	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9326A>G	X.37:g.53577921T>C	ENSP00000340648:p.His3109Arg		53594646	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531990	0.64972	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.35236	1.32;1.32	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.36672	1.1	0.58432	D	0.999998	P;D	0.53462	0.932;0.96	P;D	0.66979	0.888;0.948	T	0.33624	-0.9861	10	0.27785	T	0.31	.	14.1505	0.65381	0.0:0.0:0.0:1.0	.	3109;3093	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	R	3109	ENSP00000340648:H3109R;ENSP00000262854:H3109R	ENSP00000262854:H3109R	H	-	2	0	HUWE1	53594646	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.306000	0.78905	1.987000	0.57996	0.486000	0.48141	CAT		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
IRS4	8471	hgsc.bcm.edu	37	X	107976436	107976436	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chrX:107976436C>G	ENST00000372129.2	-	1	3215	c.3139G>C	c.(3139-3141)Gtg>Ctg	p.V1047L	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1047					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.V1047L(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGGTCGACCACATAGATTCGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	X											84.0	80.0	82.0					X																	107976436		2203	4300	6503	107863092	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3139G>C	X.37:g.107976436C>G	ENSP00000361202:p.Val1047Leu		107863092		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731639	0.69189	.	.	ENSG00000133124	ENST00000372129	T	0.47177	0.85	5.38	3.41	0.39046	.	0.477537	0.19860	N	0.104444	T	0.24661	0.0598	L	0.27053	0.805	0.30640	N	0.756524	P	0.34864	0.473	B	0.29267	0.1	T	0.09907	-1.0653	10	0.19590	T	0.45	-14.3121	2.3912	0.04378	0.0:0.4184:0.2954:0.2862	.	1047	O14654	IRS4_HUMAN	L	1047	ENSP00000361202:V1047L	ENSP00000361202:V1047L	V	-	1	0	IRS4	107863092	0.979000	0.34478	0.996000	0.52242	0.993000	0.82548	1.356000	0.34079	1.194000	0.43101	0.600000	0.82982	GTG		0.488	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
JOSD1	9929	hgsc.bcm.edu	37	22	39095977	39095977	+	Frame_Shift_Del	DEL	A	A	-	rs202131287		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr22:39095977delA	ENST00000216039.5	-	1	695	c.16delT	c.(16-18)tggfs	p.W6fs	JOSD1_ENST00000462610.1_5'Flank	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	6						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)	p.W6fs*64(1)		large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					TCTCCTTTCCATGGCACACAA	0.488																																																1	Deletion - Frameshift(1)	ovary(1)	22											140.0	142.0	141.0					22																	39095977		2203	4300	6503	37425923	SO:0001589	frameshift_variant	9929				CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.16delT	22.37:g.39095977delA	ENSP00000216039:p.Trp6fs		37425923	A8K712	Frame_Shift_Del	DEL	ENST00000216039.5	37	CCDS13976.1																																																																																				0.488	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876	
CTIF	9811	hgsc.bcm.edu	37	18	46287796	46287796	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr18:46287796G>C	ENST00000256413.3	+	9	1402	c.1107G>C	c.(1105-1107)caG>caC	p.Q369H	CTIF_ENST00000382998.4_Missense_Mutation_p.Q371H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	369					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.Q369H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTCCCCAGCAGAACAAGATGG	0.577																																																1	Substitution - Missense(1)	ovary(1)	18											125.0	87.0	100.0					18																	46287796		2203	4300	6503	44541794	SO:0001583	missense	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1107G>C	18.37:g.46287796G>C	ENSP00000256413:p.Gln369His		44541794	B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177014	0.38413	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.21932	1.98;1.98	5.8	0.738	0.18319	Armadillo-type fold (1);	0.704602	0.14295	N	0.328699	T	0.12646	0.0307	N	0.14661	0.345	0.31614	N	0.65118	B;B	0.30870	0.298;0.162	B;B	0.35899	0.213;0.078	T	0.19451	-1.0305	10	0.62326	D	0.03	-4.8823	6.6616	0.23016	0.2035:0.2377:0.5587:0.0	.	371;369	O43310-2;O43310	.;CTIF_HUMAN	H	369;371;321	ENSP00000256413:Q369H;ENSP00000372459:Q371H	ENSP00000256413:Q369H	Q	+	3	2	CTIF	44541794	1.000000	0.71417	0.927000	0.36925	0.582000	0.36321	2.490000	0.45294	-0.148000	0.11234	-0.175000	0.13238	CAG		0.577	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772	
KLK10	5655	hgsc.bcm.edu	37	19	51519365	51519365	+	Missense_Mutation	SNP	C	C	A	rs577311064		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr19:51519365C>A	ENST00000309958.3	-	4	535	c.317G>T	c.(316-318)gGa>gTa	p.G106V	KLK10_ENST00000391805.1_Missense_Mutation_p.G106V|CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000358789.3_Missense_Mutation_p.G106V	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G106V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GAGCTGCTCTCCCTGAAGAAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											42.0	35.0	37.0					19																	51519365		2200	4295	6495	56211177	SO:0001583	missense	5655			AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"""Kallikreins"""	6358	protein-coding gene	gene with protein product		602673	"""kallikrein 10"""	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.317G>T	19.37:g.51519365C>A	ENSP00000311746:p.Gly106Val		56211177	A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	c	18.24	3.579954	0.65992	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.90504	-2.68;-2.68;-2.68	4.67	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.685753	0.11990	N	0.509955	D	0.89529	0.6741	L	0.50993	1.605	0.37346	D	0.91058	P	0.38078	0.617	B	0.44133	0.442	D	0.88603	0.3151	10	0.87932	D	0	.	9.529	0.39182	0.0:0.8977:0.0:0.1023	.	106	O43240	KLK10_HUMAN	V	106	ENSP00000375681:G106V;ENSP00000311746:G106V;ENSP00000351640:G106V	ENSP00000311746:G106V	G	-	2	0	KLK10	56211177	0.006000	0.16342	0.752000	0.31206	0.988000	0.76386	0.528000	0.23002	1.046000	0.40249	0.655000	0.94253	GGA		0.602	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2	NM_002776	
LARP1	23367	hgsc.bcm.edu	37	5	154181875	154181876	+	In_Frame_Ins	INS	-	-	GAT			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr5:154181875_154181876insGAT	ENST00000336314.4	+	11	1818_1819	c.1794_1795insGAT	c.(1795-1797)gcc>GATgcc	p.598_599insD		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	675					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.L675_A676insD(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCGCCGAACTGGCCAAGGTCAT	0.55																																																1	Insertion - In frame(1)	ovary(1)	5																																								154162069	SO:0001652	inframe_insertion	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	Exception_encountered	5.37:g.154181875_154181876insGAT	ENSP00000336721:p.Leu598_Ala599insAsp		154162068	O94836|Q8N4M2|Q8NB73|Q9UFD7	In_Frame_Ins	INS	ENST00000336314.4	37	CCDS4328.1																																																																																				0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
LRBA	987	hgsc.bcm.edu	37	4	151203756	151203756	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr4:151203756C>T	ENST00000357115.3	-	56	8438	c.8195G>A	c.(8194-8196)aGg>aAg	p.R2732K	LRBA_ENST00000535741.1_Missense_Mutation_p.R2721K|LRBA_ENST00000510413.1_Missense_Mutation_p.R2720K|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2732						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)		p.R2732K(1)		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)					CTCCAAGGTCCTCAACAAGTC	0.403																																																1	Substitution - Missense(1)	ovary(1)	4											107.0	101.0	103.0					4																	151203756		2203	4300	6503	151423206	SO:0001583	missense	987			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.8195G>A	4.37:g.151203756C>T	ENSP00000349629:p.Arg2732Lys		151423206	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.775091|5.775091	0.96922|0.96922	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835;ENST00000508606|ENST00000535741;ENST00000510413;ENST00000357115	.|T;T;T	.|0.28666	.|1.6;1.6;1.6	5.91|5.91	5.91|5.91	0.95273|0.95273	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62258|0.62258	0.2413|0.2413	M|M	0.84156|0.84156	2.68|2.68	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.67145	.|0.994;0.987;0.952;0.996	.|D;D;P;D	.|0.77004	.|0.97;0.937;0.754;0.989	T|T	0.64076|0.64076	-0.6492|-0.6492	5|10	.|0.62326	.|D	.|0.03	.|.	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2732;2721;2720;627	.|P50851;F5H1X8;P50851-2;Q68D03	.|LRBA_HUMAN;.;.;.	R|K	1374;78|2721;2720;2732	.|ENSP00000446299:R2721K;ENSP00000421552:R2720K;ENSP00000349629:R2732K	.|ENSP00000349629:R2732K	G|R	-|-	1|2	0|0	LRBA|LRBA	151423206|151423206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.702000|7.702000	0.84576|0.84576	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.403	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
LRP10	26020	hgsc.bcm.edu	37	14	23344376	23344376	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:23344376G>A	ENST00000359591.4	+	4	1019	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	LRP10_ENST00000546834.1_Missense_Mutation_p.G110S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	110	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G110S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCTGCCCGGGGGCAACGTCAC	0.632																																																1	Substitution - Missense(1)	ovary(1)	14											48.0	46.0	47.0					14																	23344376		2203	4300	6503	22414216	SO:0001583	missense	26020			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.328G>A	14.37:g.23344376G>A	ENSP00000352601:p.Gly110Ser		22414216	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.391812|2.391812	0.42410|0.42410	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	D|T;T	0.94417|0.26518	-3.42|1.73;1.73	5.4|5.4	4.51|4.51	0.55191|0.55191	.|CUB (3);	0.056027|0.056027	0.64402|0.64402	D|N	0.000001|0.000001	T|T	0.20210|0.20210	0.0486|0.0486	L|L	0.32530|0.32530	0.975|0.975	0.46499|0.46499	D|D	0.999079|0.999079	.|B	.|0.11235	.|0.004	.|B	.|0.10450	.|0.005	T|T	0.03240|0.03240	-1.1057|-1.1057	8|10	0.15499|0.28530	T|T	0.54|0.3	-19.2094|-19.2094	12.924|12.924	0.58249|0.58249	0.08:0.0:0.92:0.0|0.08:0.0:0.92:0.0	.|.	.|110	.|Q7Z4F1	.|LRP10_HUMAN	E|S	11|110	ENSP00000447977:G11E|ENSP00000352601:G110S;ENSP00000447559:G110S	ENSP00000447977:G11E|ENSP00000352601:G110S	G|G	+|+	2|1	0|0	LRP10|LRP10	22414216|22414216	1.000000|1.000000	0.71417|0.71417	0.867000|0.867000	0.34043|0.34043	0.089000|0.089000	0.18198|0.18198	3.196000|3.196000	0.51020|0.51020	1.280000|1.280000	0.44463|0.44463	0.563000|0.563000	0.77884|0.77884	GGG|GGC		0.632	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3		
LRP2	4036	hgsc.bcm.edu	37	2	170062136	170062136	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:170062136C>G	ENST00000263816.3	-	41	7853	c.7568G>C	c.(7567-7569)tGg>tCg	p.W2523S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2523					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.W2523S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAGTCAGCCCAGTACAGGTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	2											91.0	86.0	88.0					2																	170062136		2203	4300	6503	169770382	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7568G>C	2.37:g.170062136C>G	ENSP00000263816:p.Trp2523Ser		169770382	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387306	0.61956	.	.	ENSG00000081479	ENST00000263816	D	0.99789	-6.75	5.9	5.9	0.94986	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96651	0.9481	10	0.87932	D	0	.	20.2664	0.98460	0.0:1.0:0.0:0.0	.	2523	P98164	LRP2_HUMAN	S	2523	ENSP00000263816:W2523S	ENSP00000263816:W2523S	W	-	2	0	LRP2	169770382	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	7.818000	0.86416	2.786000	0.95864	0.561000	0.74099	TGG		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
MAP3K3	4215	hgsc.bcm.edu	37	17	61768495	61768495	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:61768495C>A	ENST00000361733.3	+	13	1566	c.1246C>A	c.(1246-1248)Cta>Ata	p.L416I	MAP3K3_ENST00000577395.1_Missense_Mutation_p.L412I|MAP3K3_ENST00000579585.1_Missense_Mutation_p.L447I|MAP3K3_ENST00000361357.3_Missense_Mutation_p.L447I|MAP3K3_ENST00000584573.1_Missense_Mutation_p.L443I	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	416	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.L416I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GATCCAGTTGCTAAAGAACTT	0.592																																																1	Substitution - Missense(1)	ovary(1)	17											112.0	92.0	99.0					17																	61768495		2203	4300	6503	59122227	SO:0001583	missense	4215			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1246C>A	17.37:g.61768495C>A	ENSP00000354485:p.Leu416Ile		59122227	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427635	0.83667	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.34275	1.37;1.37	5.19	2.08	0.27032	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	0.64402	D	0.000001	T	0.59142	0.2172	M	0.82433	2.59	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.995	T	0.63283	-0.6672	10	0.87932	D	0	.	10.6012	0.45369	0.0:0.7798:0.0:0.2202	.	412;384;416;447	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	I	447;416	ENSP00000354927:L447I;ENSP00000354485:L416I	ENSP00000354927:L447I	L	+	1	2	MAP3K3	59122227	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.588000	0.36633	0.695000	0.31675	0.462000	0.41574	CTA		0.592	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401	
NEFH	4744	hgsc.bcm.edu	37	22	29885437	29885438	+	Frame_Shift_Ins	INS	-	-	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr22:29885437_29885438insG	ENST00000310624.6	+	4	1841_1842	c.1808_1809insG	c.(1807-1812)aaggccfs	p.A604fs		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	604	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A604fs*14(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCTCCAGAGAAGGCCAAGtccc	0.559																																																1	Insertion - Frameshift(1)	ovary(1)	22																																								28215438	SO:0001589	frameshift_variant	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1810dupG	22.37:g.29885439_29885439dupG	ENSP00000311997:p.Ala604fs		28215437	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Frame_Shift_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.559	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
NOVA1	4857	hgsc.bcm.edu	37	14	26918027	26918027	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:26918027A>G	ENST00000539517.2	-	5	979	c.662T>C	c.(661-663)gTc>gCc	p.V221A	NOVA1_ENST00000465357.2_Missense_Mutation_p.V197A|NOVA1_ENST00000267422.7_Missense_Mutation_p.V99A	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	224	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V221A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ACTCACAGTGACAACCCTCTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	14											204.0	187.0	193.0					14																	26918027		2203	4300	6503	25987867	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.662T>C	14.37:g.26918027A>G	ENSP00000438875:p.Val221Ala		25987867	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964891	0.74131	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.73	5.73	0.89815	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000003	T	0.63780	0.2540	M	0.71871	2.18	0.80722	D	1	D;P;P	0.71674	0.998;0.58;0.525	D;B;B	0.69654	0.965;0.285;0.188	T	0.67620	-0.5624	10	0.87932	D	0	-3.1557	16.0142	0.80425	1.0:0.0:0.0:0.0	.	224;197;221	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	A	197;221;99;180;75	ENSP00000447391:V197A;ENSP00000438875:V221A;ENSP00000267422:V99A;ENSP00000408914:V180A;ENSP00000299472:V75A	ENSP00000267422:V99A	V	-	2	0	NOVA1	25987867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.187000	0.69744	0.460000	0.39030	GTC		0.488	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491	
NR1H3	10062	hgsc.bcm.edu	37	11	47282193	47282193	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr11:47282193C>A	ENST00000467728.1	+	3	1704	c.466C>A	c.(466-468)Cgc>Agc	p.R156S	NR1H3_ENST00000481889.2_Missense_Mutation_p.R111S|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.R156S|NR1H3_ENST00000395397.3_Missense_Mutation_p.R111S|NR1H3_ENST00000441012.2_Missense_Mutation_p.R156S|NR1H3_ENST00000527949.1_Missense_Mutation_p.R65S|NR1H3_ENST00000405853.3_Missense_Mutation_p.R156S|NR1H3_ENST00000405576.1_Missense_Mutation_p.R111S			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	156					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R156S(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GTGTCGGCTTCGCAAATGCCG	0.632																																																1	Substitution - Missense(1)	ovary(1)	11											31.0	29.0	30.0					11																	47282193		2201	4298	6499	47238769	SO:0001583	missense	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.466C>A	11.37:g.47282193C>A	ENSP00000420656:p.Arg156Ser		47238769	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846747	0.91277	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.08	5.08	0.68730	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.71206	2.165	0.42919	D	0.994286	D;D;D;D;D	0.89917	0.997;0.984;0.994;1.0;0.974	D;D;D;D;P	0.79784	0.958;0.937;0.963;0.993;0.851	D	0.99768	1.1023	10	0.87932	D	0	.	18.8433	0.92194	0.0:1.0:0.0:0.0	.	162;111;156;111;156	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	S	111;111;111;156;156;156;111;156;156;156;156;156;65	ENSP00000378793:R111S;ENSP00000385073:R111S;ENSP00000433271:R111S;ENSP00000403798:R156S;ENSP00000385801:R156S;ENSP00000391005:R156S;ENSP00000412636:R111S;ENSP00000415591:R156S;ENSP00000387946:R156S;ENSP00000403696:R156S;ENSP00000420656:R156S;ENSP00000384745:R156S;ENSP00000432073:R65S	ENSP00000378793:R111S	R	+	1	0	NR1H3	47238769	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.927000	0.70080	2.503000	0.84419	0.462000	0.41574	CGC		0.632	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3		
OXSR1	9943	hgsc.bcm.edu	37	3	38265303	38265303	+	Splice_Site	SNP	G	G	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:38265303G>T	ENST00000446845.1	+	7	973	c.601G>T	c.(601-603)Gtc>Ttc	p.V201F	OXSR1_ENST00000311806.3_Splice_Site_p.V201F					oxidative stress responsive 1									p.V201F(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTTTTGCAGGTCCGTGGTTA	0.408																																																1	Substitution - Missense(1)	ovary(1)	3											95.0	95.0	95.0					3																	38265303		2203	4300	6503	38240307	SO:0001630	splice_region_variant	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.601-1G>T	3.37:g.38265303G>T			38240307		Missense_Mutation	SNP	ENST00000446845.1	37		.	.	.	.	.	.	.	.	.	.	G	26.8	4.771210	0.90108	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.65916	-0.18;-0.18	5.3	5.3	0.74995	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	0.67543	0.2904	N	0.20610	0.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65759	-0.6090	9	.	.	.	-12.1705	18.307	0.90185	0.0:0.0:1.0:0.0	.	201;201	C9JIG9;O95747	.;OXSR1_HUMAN	F	201	ENSP00000415851:V201F;ENSP00000311713:V201F	.	V	+	1	0	OXSR1	38240307	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.389000	0.97243	2.658000	0.90341	0.655000	0.94253	GTC		0.408	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109	Missense_Mutation
PCDH20	64881	hgsc.bcm.edu	37	13	61986664	61986664	+	Missense_Mutation	SNP	A	A	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr13:61986664A>C	ENST00000409186.1	-	5	3673	c.1568T>G	c.(1567-1569)gTg>gGg	p.V523G	PCDH20_ENST00000409204.4_Missense_Mutation_p.V523G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	523	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> M (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.V496G(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TAAAAGTTGCACTTTAATGAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	13											140.0	142.0	141.0					13																	61986664		2203	4300	6503	60884665	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1568T>G	13.37:g.61986664A>C	ENSP00000386653:p.Val523Gly		60884665	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250281	0.59212	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.71222	-0.55;-0.55	6.06	6.06	0.98353	.	0.408933	0.21981	N	0.066314	D	0.84511	0.5488	M	0.87900	2.915	0.80722	D	1	D	0.56746	0.977	P	0.58454	0.839	D	0.87100	0.2178	10	0.87932	D	0	.	16.6245	0.84952	1.0:0.0:0.0:0.0	.	523	A8K1K9	.	G	523;523;269	ENSP00000387250:V523G;ENSP00000386653:V523G	ENSP00000351500:V269G	V	-	2	0	PCDH20	60884665	1.000000	0.71417	0.995000	0.50966	0.825000	0.46686	9.249000	0.95470	2.323000	0.78572	0.528000	0.53228	GTG		0.403	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
PLVAP	83483	hgsc.bcm.edu	37	19	17487777	17487777	+	Silent	SNP	G	G	A	rs181770634	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr19:17487777G>A	ENST00000252590.4	-	1	382	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	107					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R107R(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTCCAGGTCGCGGCGAGCAT	0.637													G|||	3	0.000599042	0.0	0.0	5008	,	,		18373	0.002		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	19											99.0	86.0	90.0					19																	17487777		2203	4300	6503	17348777	SO:0001819	synonymous_variant	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.321C>T	19.37:g.17487777G>A			17348777	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	CCDS32952.1																																																																																				0.637	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310	
PRC1	9055	hgsc.bcm.edu	37	15	91512798	91512798	+	Missense_Mutation	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr15:91512798C>A	ENST00000361188.5	-	13	2839	c.1628G>T	c.(1627-1629)gGa>gTa	p.G543V	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.G543V|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.G502V|PRC1_ENST00000361919.3_Missense_Mutation_p.G543V					protein regulator of cytokinesis 1									p.G543V(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTGTTGGCTCCATGCCTGCC	0.547																																																1	Substitution - Missense(1)	ovary(1)	15											137.0	103.0	114.0					15																	91512798		2198	4298	6496	89313802	SO:0001583	missense	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1628G>T	15.37:g.91512798C>A	ENSP00000354679:p.Gly543Val		89313802		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900285	0.52227	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	6.06	5.13	0.70059	.	0.463864	0.24652	N	0.036711	T	0.40272	0.1110	L	0.36672	1.1	0.49213	D	0.999761	B;B;B;B	0.27765	0.156;0.156;0.156;0.188	B;B;B;P	0.45794	0.211;0.168;0.299;0.493	T	0.32745	-0.9895	10	0.30078	T	0.28	.	10.0855	0.42415	0.0:0.7773:0.1506:0.0721	.	502;543;513;543	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	V	543;543;543;146;502	ENSP00000377793:G543V;ENSP00000354618:G543V;ENSP00000354679:G543V;ENSP00000409549:G502V	ENSP00000354679:G543V	G	-	2	0	PRC1	89313802	1.000000	0.71417	0.893000	0.35052	0.933000	0.57130	3.342000	0.52159	1.541000	0.49316	0.650000	0.86243	GGA		0.547	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981	
PROM2	150696	hgsc.bcm.edu	37	2	95944750	95944753	+	Frame_Shift_Del	DEL	GCCC	GCCC	-	rs537330308		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	GCCC	GCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:95944750_95944753delGCCC	ENST00000317620.9	+	10	1265_1268	c.1132_1135delGCCC	c.(1132-1137)gcccagfs	p.AQ378fs	PROM2_ENST00000403131.2_Frame_Shift_Del_p.AQ378fs|PROM2_ENST00000542147.1_Frame_Shift_Del_p.AQ378fs|PROM2_ENST00000317668.4_Frame_Shift_Del_p.AQ378fs	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	378					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.A378fs*6(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAAGGCAGTGGCCCAGCAGCCGGA	0.647																																																1	Deletion - Frameshift(1)	ovary(1)	2																																								95308480	SO:0001589	frameshift_variant	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1132_1135delGCCC	2.37:g.95944750_95944753delGCCC	ENSP00000318270:p.Ala378fs		95308477	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Frame_Shift_Del	DEL	ENST00000317620.9	37	CCDS2012.1																																																																																				0.647	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707	
SCN1A	6323	hgsc.bcm.edu	37	2	166903282	166903282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:166903282G>A	ENST00000303395.4	-	9	1374	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q459*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q459*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.Q459*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	459					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.Q459*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCTTTACCTGAGCTGCCTCC	0.448																																																1	Substitution - Nonsense(1)	ovary(1)	2											91.0	79.0	83.0					2																	166903282		2203	4300	6503	166611528	SO:0001587	stop_gained	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1375C>T	2.37:g.166903282G>A	ENSP00000303540:p.Gln459*		166611528	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	37	6.556459	0.97663	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.31	5.31	0.75309	.	0.206675	0.35179	N	0.003386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.3428	0.94350	0.0:0.0:1.0:0.0	.	.	.	.	X	459	.	ENSP00000303540:Q459X	Q	-	1	0	SCN1A	166611528	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.827000	0.86722	2.637000	0.89404	0.655000	0.94253	CAG		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SDHA	6389	hgsc.bcm.edu	37	5	256484	256485	+	Frame_Shift_Del	DEL	TT	TT	-	rs112307877		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr5:256484_256485delTT	ENST00000264932.6	+	15	2059_2060	c.1944_1945delTT	c.(1942-1947)actttgfs	p.L649fs	SDHA_ENST00000504309.1_Frame_Shift_Del_p.L568fs|SDHA_ENST00000510361.1_Frame_Shift_Del_p.L601fs|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	649					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.L649fs*4(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCGACAAAACTTTGAACGAGGC	0.431									Familial Paragangliomas																																							1	Deletion - Frameshift(1)	ovary(1)	5																																								309485	SO:0001589	frameshift_variant	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1944_1945delTT	5.37:g.256484_256485delTT	ENSP00000264932:p.Leu649fs		309484	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Frame_Shift_Del	DEL	ENST00000264932.6	37	CCDS3853.1																																																																																				0.431	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168	
SGSM2	9905	hgsc.bcm.edu	37	17	2266876	2266877	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:2266876_2266877delCA	ENST00000426855.2	+	7	965_966	c.790_791delCA	c.(790-792)cacfs	p.H264fs	SGSM2_ENST00000268989.3_Frame_Shift_Del_p.H264fs|SGSM2_ENST00000574563.1_Frame_Shift_Del_p.H264fs	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	264					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.H264fs*169(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGGCAAGAACCACGTGCTGGTG	0.629																																																1	Deletion - Frameshift(1)	ovary(1)	17																																								2213627	SO:0001589	frameshift_variant	9905			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.790_791delCA	17.37:g.2266876_2266877delCA	ENSP00000415107:p.His264fs		2213626	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Frame_Shift_Del	DEL	ENST00000426855.2	37	CCDS45570.1																																																																																				0.629	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853	
SULF2	55959	hgsc.bcm.edu	37	20	46294020	46294020	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr20:46294020G>C	ENST00000359930.4	-	14	2771	c.1920C>G	c.(1918-1920)aaC>aaG	p.N640K	SULF2_ENST00000484875.1_Missense_Mutation_p.N640K|SULF2_ENST00000361612.4_Missense_Mutation_p.N640K|SULF2_ENST00000467815.1_Missense_Mutation_p.N640K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	640					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.N640K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCTTAATTTTGTTCTGCAGGG	0.522																																																1	Substitution - Missense(1)	ovary(1)	20											150.0	152.0	151.0					20																	46294020		2203	4300	6503	45727427	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1920C>G	20.37:g.46294020G>C	ENSP00000353007:p.Asn640Lys		45727427	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827540	0.32329	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.15	4.2	0.49525	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.090836	0.85682	D	0.000000	D	0.95962	0.8685	L	0.47716	1.5	0.43564	D	0.995882	P;B	0.44195	0.828;0.336	B;B	0.40066	0.318;0.183	D	0.93659	0.6980	10	0.14252	T	0.57	-30.3527	8.4913	0.33102	0.2264:0.0:0.7736:0.0	.	640;640	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	K	640;640;640;59;640	ENSP00000353007:N640K;ENSP00000418290:N640K;ENSP00000354662:N640K;ENSP00000418442:N640K	ENSP00000353007:N640K	N	-	3	2	SULF2	45727427	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.789000	0.38724	1.168000	0.42723	0.462000	0.41574	AAC		0.522	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
TP53	7157	hgsc.bcm.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAACCAGACCTCAGGCGGC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	17	GRCh37	CS071266	TP53	S							80.0	75.0	77.0					17																	7578176		2203	4300	6503	7518901	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578176C>A			7518901	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
TSPYL1	7259	hgsc.bcm.edu	37	6	116600085	116600085	+	Nonsense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr6:116600085G>C	ENST00000368608.3	-	1	981	c.909C>G	c.(907-909)taC>taG	p.Y303*	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000540275.1_Intron|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	303					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.Y303*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		AATTGGTTATGTACCTTAACA	0.453																																																1	Substitution - Nonsense(1)	ovary(1)	6											124.0	129.0	127.0					6																	116600085		2203	4300	6503	116706778	SO:0001587	stop_gained	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.909C>G	6.37:g.116600085G>C	ENSP00000357597:p.Tyr303*		116706778	O75885|Q5TFE6	Nonsense_Mutation	SNP	ENST00000368608.3	37	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119744	0.94385	.	.	ENSG00000189241	ENST00000368608	.	.	.	4.27	2.5	0.30297	.	0.000000	0.32204	N	0.006430	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0138	6.6031	0.22710	0.2134:0.0:0.7866:0.0	.	.	.	.	X	303	.	ENSP00000357597:Y303X	Y	-	3	2	TSPYL1	116706778	0.939000	0.31865	0.895000	0.35142	0.995000	0.86356	0.808000	0.27154	0.751000	0.32900	0.462000	0.41574	TAC		0.453	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1		
UBE4A	9354	hgsc.bcm.edu	37	11	118261438	118261441	+	Frame_Shift_Del	DEL	ACAG	ACAG	-	rs142299294	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	ACAG	ACAG	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr11:118261438_118261441delACAG	ENST00000431736.2	+	18	2928_2931	c.2856_2859delACAG	c.(2854-2859)gcacagfs	p.AQ952fs	UBE4A_ENST00000252108.3_Frame_Shift_Del_p.AQ945fs|UBE4A_ENST00000545354.1_Frame_Shift_Del_p.AQ417fs					ubiquitination factor E4A									p.T954fs*4(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTCTCTTTGCACAGACAGTTCGAG	0.436																																																1	Deletion - Frameshift(1)	ovary(1)	11																																								117766651	SO:0001589	frameshift_variant	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2856_2859delACAG	11.37:g.118261442_118261445delACAG	ENSP00000387362:p.Ala952fs		117766648		Frame_Shift_Del	DEL	ENST00000431736.2	37	CCDS8396.1																																																																																				0.436	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	
ABCC2	1244	hgsc.bcm.edu	37	10	101578641	101578641	+	Missense_Mutation	SNP	C	C	G	rs56220353	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr10:101578641C>G	ENST00000370449.4	+	18	2479	c.2366C>G	c.(2365-2367)tCt>tGt	p.S789C		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	789	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> F (in dbSNP:rs56220353). {ECO:0000269|PubMed:11266082}.		cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.S789C(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GACCCCCTGTCTGCAGTGGAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	10	GRCh37	CM045738	ABCC2	M	rs56220353						71.0	76.0	74.0					10																	101578641		2203	4300	6503	101568631	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2366C>G	10.37:g.101578641C>G	ENSP00000359478:p.Ser789Cys		101568631	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515701	0.64634	.	.	ENSG00000023839	ENST00000370449	D	0.93189	-3.18	6.08	6.08	0.98989	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98655	1.0681	10	0.87932	D	0	-9.0945	19.6529	0.95825	0.0:1.0:0.0:0.0	.	789	Q92887	MRP2_HUMAN	C	789	ENSP00000359478:S789C	ENSP00000359478:S789C	S	+	2	0	ABCC2	101568631	1.000000	0.71417	0.617000	0.29091	0.202000	0.24057	7.815000	0.86186	2.890000	0.99128	0.655000	0.94253	TCT		0.448	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
ABHD6	57406	hgsc.bcm.edu	37	3	58271149	58271149	+	Missense_Mutation	SNP	C	C	T			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:58271149C>T	ENST00000478253.1	+	9	1307	c.806C>T	c.(805-807)cCg>cTg	p.P269L	ABHD6_ENST00000295962.4_Missense_Mutation_p.P269L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	269					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)	p.P269L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATCAAGGTTCCGACGCAGATC	0.483																																																1	Substitution - Missense(1)	ovary(1)	3											95.0	85.0	88.0					3																	58271149		2203	4300	6503	58246189	SO:0001583	missense	57406			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.806C>T	3.37:g.58271149C>T	ENSP00000420315:p.Pro269Leu		58246189	B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101839	0.94245	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	D;D	0.90844	-2.74;-2.74	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.941	D	0.95871	0.8891	10	0.87932	D	0	-23.4988	19.1572	0.93516	0.0:1.0:0.0:0.0	.	269;269	Q9BV23;F5H7L1	ABHD6_HUMAN;.	L	269	ENSP00000420315:P269L;ENSP00000295962:P269L	ENSP00000295962:P269L	P	+	2	0	ABHD6	58246189	1.000000	0.71417	0.516000	0.27786	0.986000	0.74619	7.230000	0.78097	2.606000	0.88127	0.563000	0.77884	CCG		0.483	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676	
ACE	1636	hgsc.bcm.edu	37	17	61571747	61571747	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:61571747G>A	ENST00000290866.4	+	22	3320	c.3296G>A	c.(3295-3297)gGc>gAc	p.G1099D	ACE_ENST00000413513.3_Missense_Mutation_p.G525D|ACE_ENST00000428043.1_Missense_Mutation_p.G1099D|ACE_ENST00000290863.6_Missense_Mutation_p.G525D|ACE_ENST00000490216.2_Missense_Mutation_p.G525D|ACE_ENST00000577647.1_Missense_Mutation_p.G525D|ACE_ENST00000421982.2_Missense_Mutation_p.G345D	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1099	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.G1099D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AAGTACCAGGGCCTCTGCCCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	17											75.0	59.0	65.0					17																	61571747		2203	4300	6503	58925479	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3296G>A	17.37:g.61571747G>A	ENSP00000290866:p.Gly1099Asp		58925479	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818374	0.50633	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	H	0.98027	4.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.90322	0.4345	10	0.87932	D	0	-38.6559	17.7487	0.88428	0.0:0.0:1.0:0.0	.	345;525;525;1099	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	D	1099;1099;525;525;345	ENSP00000290866:G1099D;ENSP00000397593:G1099D;ENSP00000290863:G525D;ENSP00000392247:G525D;ENSP00000387760:G345D	ENSP00000290863:G525D	G	+	2	0	ACE	58925479	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.561000	0.98142	2.197000	0.70478	0.313000	0.20887	GGC		0.562	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
AMHR2	269	hgsc.bcm.edu	37	12	53819530	53819530	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr12:53819530G>C	ENST00000257863.4	+	6	759	c.679G>C	c.(679-681)Gtt>Ctt	p.V227L	AMHR2_ENST00000550311.1_Missense_Mutation_p.V227L|AMHR2_ENST00000379791.3_Missense_Mutation_p.V227L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	227	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.V227L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGGAAAACTGGTTGCCATCAA	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											73.0	61.0	65.0					12																	53819530		2203	4300	6503	52105797	SO:0001583	missense	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.679G>C	12.37:g.53819530G>C	ENSP00000257863:p.Val227Leu		52105797	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115085	0.94339	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	T;T;T	0.71461	-0.57;-0.57;-0.57	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35805	N	0.002975	D	0.84638	0.5516	M	0.79693	2.465	0.45930	D	0.99876	D;D	0.89917	0.996;1.0	D;D	0.85130	0.99;0.997	D	0.85990	0.1488	10	0.87932	D	0	.	15.6361	0.76953	0.0:0.0:1.0:0.0	.	227;227	F8W1D2;Q16671	.;AMHR2_HUMAN	L	227	ENSP00000257863:V227L;ENSP00000446661:V227L;ENSP00000369117:V227L	ENSP00000257863:V227L	V	+	1	0	AMHR2	52105797	1.000000	0.71417	0.963000	0.40424	0.908000	0.53690	6.030000	0.70903	2.840000	0.97914	0.655000	0.94253	GTT		0.562	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547	
ANO10	55129	hgsc.bcm.edu	37	3	43474200	43474200	+	Missense_Mutation	SNP	T	T	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr3:43474200T>C	ENST00000292246.3	-	12	1987	c.1817A>G	c.(1816-1818)aAg>aGg	p.K606R	ANO10_ENST00000414522.2_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.K540R|ANO10_ENST00000451430.2_Missense_Mutation_p.K495R|ANO10_ENST00000350459.4_Missense_Mutation_p.K416R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	606					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.K606R(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAGTATAAACTTTAAAGCCAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											89.0	84.0	86.0					3																	43474200		2203	4300	6503	43449204	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1817A>G	3.37:g.43474200T>C	ENSP00000292246:p.Lys606Arg		43449204	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	CCDS2710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.21|17.21	3.332820|3.332820	0.60853|0.60853	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000451430|ENST00000448045	T;T;T;T|.	0.69040|.	-0.37;-0.37;-0.37;-0.37|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.175554|.	0.49916|.	D|.	0.000139|.	T|T	0.68146|0.68146	0.2969|0.2969	L|L	0.52206|0.52206	1.635|1.635	0.54753|0.54753	D|D	0.999985|0.999985	P;P;P;P|.	0.46656|.	0.545;0.569;0.882;0.763|.	B;P;P;P|.	0.51582|.	0.165;0.58;0.612;0.674|.	T|T	0.66135|0.66135	-0.5999|-0.5999	10|5	0.21014|.	T|.	0.42|.	.|.	15.5982|15.5982	0.76602|0.76602	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	495;416;540;606|.	Q9NW15-4;Q9NW15-2;Q9NW15-3;Q9NW15|.	.;.;.;ANO10_HUMAN|.	R|G	606;416;540;495|134	ENSP00000292246:K606R;ENSP00000327767:K416R;ENSP00000379398:K540R;ENSP00000394119:K495R|.	ENSP00000292246:K606R|.	K|S	-|-	2|1	0|0	ANO10|ANO10	43449204|43449204	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.987000|0.987000	0.75469|0.75469	7.310000|7.310000	0.78947|0.78947	2.088000|2.088000	0.63022|0.63022	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.403	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075	
VWA7	80737	hgsc.bcm.edu	37	6	31733543	31733543	+	Missense_Mutation	SNP	C	C	T	rs375942272	byFrequency	TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr6:31733543C>T	ENST00000375688.4	-	17	2704	c.2504G>A	c.(2503-2505)cGg>cAg	p.R835Q	SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375686.3_Silent_p.P844P			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	835						extracellular region (GO:0005576)		p.R835Q(1)									GGTGGTGTGCCGGTCCTGTGG	0.597													T|||	2	0.000399361	0.0	0.0	5008	,	,		16929	0.0		0.0	False		,,,				2504	0.002															1	Substitution - Missense(1)	ovary(1)	6						T	GLN/ARG	0,3022		0,0,1511	93.0	49.0	65.0		2504	2.4	0.0	6		65	1,5417		0,1,2708	no	missense	C6orf27	NM_025258.2	43	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	benign	835/892	31733543	1,8439	1511	2709	4220	31841522	SO:0001583	missense	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2504G>A	6.37:g.31733543C>T	ENSP00000364840:p.Arg835Gln		31841522	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	0.826	-0.747080	0.03065	0.0	1.85E-4	ENSG00000204396	ENST00000375688	T	0.10192	2.9	4.87	2.42	0.29668	.	1.482110	0.04450	N	0.372373	T	0.00967	0.0032	N	0.02247	-0.625	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.10111	T	0.7	0.1777	4.2278	0.10589	0.0:0.1831:0.1732:0.6438	.	835	Q9Y334	G7C_HUMAN	Q	835	ENSP00000364840:R835Q	ENSP00000364840:R835Q	R	-	2	0	C6orf27	31841522	0.968000	0.33430	0.001000	0.08648	0.000000	0.00434	0.292000	0.19011	0.097000	0.17492	-0.269000	0.10298	CGG		0.597	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258	
CENPJ	55835	hgsc.bcm.edu	37	13	25484157	25484157	+	Missense_Mutation	SNP	C	C	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr13:25484157C>G	ENST00000381884.4	-	4	821	c.636G>C	c.(634-636)gaG>gaC	p.E212D	CENPJ_ENST00000545981.1_Missense_Mutation_p.E212D	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	212					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.E212D(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ATGTGGCTCTCTCTCCAGTGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	13											124.0	126.0	126.0					13																	25484157		2203	4300	6503	24382157	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.636G>C	13.37:g.25484157C>G	ENSP00000371308:p.Glu212Asp		24382157	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	4.485	0.089907	0.08632	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18960	2.18;2.18	5.15	2.31	0.28768	.	0.717637	0.13369	N	0.393087	T	0.16811	0.0404	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.27331	-1.0077	10	0.24483	T	0.36	.	2.5937	0.04848	0.2011:0.5222:0.1719:0.1048	.	212	Q9HC77	CENPJ_HUMAN	D	212	ENSP00000371308:E212D;ENSP00000441090:E212D	ENSP00000371308:E212D	E	-	3	2	CENPJ	24382157	0.219000	0.23619	0.038000	0.18304	0.007000	0.05969	0.080000	0.14802	0.731000	0.32448	0.555000	0.69702	GAG		0.463	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
CHML	1122	hgsc.bcm.edu	37	1	241797528	241797528	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr1:241797528G>C	ENST00000366553.1	-	1	1704	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	514					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.S514C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGTTTTAGAAGATGAACATGT	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											83.0	78.0	80.0					1																	241797528		2203	4299	6502	239864151	SO:0001583	missense	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1541C>G	1.37:g.241797528G>C	ENSP00000355511:p.Ser514Cys		239864151	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539723	0.65085	.	.	ENSG00000203668	ENST00000366553	D	0.83673	-1.75	5.08	5.08	0.68730	.	0.000000	0.85682	U	0.000000	D	0.89615	0.6766	.	.	.	0.54753	D	0.999986	D	0.69078	0.997	P	0.62382	0.901	D	0.89970	0.4093	9	0.59425	D	0.04	-13.9275	16.3808	0.83460	0.0:0.0:1.0:0.0	.	514	P26374	RAE2_HUMAN	C	514	ENSP00000355511:S514C	ENSP00000355511:S514C	S	-	2	0	CHML	239864151	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	2.468000	0.45102	2.826000	0.97356	0.655000	0.94253	TCT		0.408	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821	
CTHRC1	115908	hgsc.bcm.edu	37	8	104390423	104390423	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr8:104390423G>C	ENST00000330295.5	+	3	683	c.541G>C	c.(541-543)Gga>Cga	p.G181R	CTHRC1_ENST00000520880.1_Missense_Mutation_p.G51R|CTHRC1_ENST00000520337.1_Missense_Mutation_p.G167R	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	181					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.G181R(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TTTGGACCAAGGAAGCCCTGA	0.373																																																1	Substitution - Missense(1)	ovary(1)	8											95.0	94.0	95.0					8																	104390423		2203	4300	6503	104459599	SO:0001583	missense	115908			BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.541G>C	8.37:g.104390423G>C	ENSP00000330523:p.Gly181Arg		104459599	G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562247	0.86335	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	T;T	0.68479	-0.33;0.73	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83473	0.0060	10	0.72032	D	0.01	-3.781	19.3347	0.94312	0.0:0.0:1.0:0.0	.	181	Q96CG8	CTHR1_HUMAN	R	181;167;167;51	ENSP00000330523:G181R;ENSP00000430550:G167R	ENSP00000297577:G167R	G	+	1	0	CTHRC1	104459599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.571000	0.86741	0.650000	0.86243	GGA		0.373	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	
CSMD3	114788	hgsc.bcm.edu	37	8	113347628	113347628	+	Silent	SNP	A	A	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr8:113347628A>C	ENST00000297405.5	-	45	7339	c.7095T>G	c.(7093-7095)acT>acG	p.T2365T	CSMD3_ENST00000352409.3_Silent_p.T2295T|CSMD3_ENST00000343508.3_Silent_p.T2325T|CSMD3_ENST00000455883.2_Silent_p.T2261T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2365	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2365T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGATTTGAAGTACTGTAGA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - coding silent(1)	ovary(1)	8											129.0	118.0	122.0					8																	113347628		2203	4300	6503	113416804	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7095T>G	8.37:g.113347628A>C			113416804	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
MYH4	4622	hgsc.bcm.edu	37	17	10350417	10350417	+	Silent	SNP	T	T	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr17:10350417T>A	ENST00000255381.2	-	35	5192	c.5082A>T	c.(5080-5082)gcA>gcT	p.A1694A	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1694					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1694A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTCCAGGGATGCCCTGAGCT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	17											174.0	138.0	150.0					17																	10350417		2203	4300	6503	10291142	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5082A>T	17.37:g.10350417T>A			10291142		Silent	SNP	ENST00000255381.2	37	CCDS11154.1																																																																																				0.522	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
OR10H2	26538	hgsc.bcm.edu	37	19	15839642	15839642	+	Silent	SNP	C	C	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr19:15839642C>A	ENST00000305899.3	+	1	809	c.789C>A	c.(787-789)ccC>ccA	p.P263P		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P263P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACCTCAAGCCCAAAGGTCCCC	0.557																																																1	Substitution - coding silent(1)	ovary(1)	19											165.0	130.0	142.0					19																	15839642		2203	4300	6503	15700642	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.789C>A	19.37:g.15839642C>A			15700642	Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	CCDS12333.1																																																																																				0.557	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1		
TEX10	54881	hgsc.bcm.edu	37	9	103082642	103082642	+	Missense_Mutation	SNP	G	G	C	rs367648075		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr9:103082642G>C	ENST00000374902.4	-	11	2283	c.2107C>G	c.(2107-2109)Cga>Gga	p.R703G	TEX10_ENST00000535814.1_Missense_Mutation_p.R706G	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	703						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.R703G(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GGAACTCCTCGAAGGCTCTGA	0.388																																																1	Substitution - Missense(1)	ovary(1)	9						G	GLY/ARG,GLY/ARG	0,4406		0,0,2203	62.0	55.0	58.0		2116,2107	4.6	1.0	9		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TEX10	NM_001161584.1,NM_017746.3	125,125	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign	706/914,703/930	103082642	1,13005	2203	4300	6503	102122463	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2107C>G	9.37:g.103082642G>C	ENSP00000364037:p.Arg703Gly		102122463	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150015	0.37923	0.0	1.16E-4	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.55	4.62	0.57501	.	0.391462	0.26859	N	0.022124	T	0.61739	0.2371	L	0.29908	0.895	0.80722	D	1	B;D;B	0.65815	0.079;0.995;0.079	B;P;B	0.60682	0.016;0.878;0.016	T	0.65018	-0.6270	9	0.72032	D	0.01	-6.0115	14.0117	0.64500	0.0:0.0:0.6756:0.3244	.	706;571;703	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	G	706;703;571	.	ENSP00000364037:R703G	R	-	1	2	TEX10	102122463	0.991000	0.36638	0.997000	0.53966	0.993000	0.82548	1.180000	0.32005	2.605000	0.88082	0.563000	0.77884	CGA		0.388	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
TMOD2	29767	hgsc.bcm.edu	37	15	52058735	52058735	+	Missense_Mutation	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr15:52058735G>C	ENST00000249700.4	+	2	318	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	TMOD2_ENST00000435126.2_Missense_Mutation_p.E33Q|TMOD2_ENST00000539962.2_5'UTR	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	33					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.E33Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAAACAGTTGGAAAATGTTCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	15											148.0	136.0	140.0					15																	52058735		2195	4293	6488	49846027	SO:0001583	missense	29767			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.97G>C	15.37:g.52058735G>C	ENSP00000249700:p.Glu33Gln		49846027	B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407255	0.83230	.	.	ENSG00000128872	ENST00000435126;ENST00000249700	T;T	0.33654	1.4;1.4	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.54323	1.7	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	0.988;1.0	T	0.48790	-0.9004	10	0.32370	T	0.25	-19.6125	19.4249	0.94737	0.0:0.0:1.0:0.0	.	33;33	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	Q	33	ENSP00000404590:E33Q;ENSP00000249700:E33Q	ENSP00000249700:E33Q	E	+	1	0	TMOD2	49846027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.604000	0.88044	0.591000	0.81541	GAA		0.418	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2		
TXNDC12	51060	hgsc.bcm.edu	37	1	52486660	52486660	+	Missense_Mutation	SNP	T	T	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr1:52486660T>A	ENST00000371626.4	-	7	1538	c.464A>T	c.(463-465)cAg>cTg	p.Q155L	TXNDC12_ENST00000471493.1_5'Flank	NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	155					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)	p.Q155L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	CAGCCTTTCCTGAGCTTCCTT	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											129.0	113.0	118.0					1																	52486660		2203	4300	6503	52259248	SO:0001583	missense	51060			AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"""Protein disulfide isomerases"""	24626	protein-coding gene	gene with protein product	"""endoplasmic reticulum thioredoxin superfamily member, 18 kDa"", ""anterior gradient homolog 1 (Xenopus laevis)"", ""protein disulfide isomerase family A, member 16"""	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.464A>T	1.37:g.52486660T>A	ENSP00000360688:p.Gln155Leu		52259248	B3KQS0|Q5T1T4|Q96H50	Missense_Mutation	SNP	ENST00000371626.4	37	CCDS561.1	.	.	.	.	.	.	.	.	.	.	T	8.104	0.777283	0.16120	.	.	ENSG00000117862	ENST00000371626	T	0.40225	1.04	5.62	5.62	0.85841	Thioredoxin-like fold (3);	0.128326	0.53938	D	0.000045	T	0.39332	0.1074	M	0.65975	2.015	0.80722	D	1	B	0.15473	0.013	B	0.09377	0.004	T	0.31166	-0.9953	10	0.08179	T	0.78	.	14.0523	0.64745	0.0:0.0:0.0:1.0	.	155	O95881	TXD12_HUMAN	L	155	ENSP00000360688:Q155L	ENSP00000360688:Q155L	Q	-	2	0	TXNDC12	52259248	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.137000	0.71710	2.138000	0.66242	0.533000	0.62120	CAG		0.383	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023818.1	NM_015913	
PDK3	5165	hgsc.bcm.edu	37	X	24523397	24523397	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chrX:24523397G>A	ENST00000379162.4	+	5	812	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PDK3_ENST00000441463.2_Missense_Mutation_p.V193M	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	193	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.V193M(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CACCTGTAACGTGGCGGATGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	X											185.0	137.0	154.0					X																	24523397		2203	4300	6503	24433318	SO:0001583	missense	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.577G>A	X.37:g.24523397G>A	ENSP00000368460:p.Val193Met		24433318	B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537541	0.65085	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.78003	-1.14;-1.14	5.6	4.75	0.60458	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.958	D	0.92105	0.5691	10	0.62326	D	0.03	.	13.8548	0.63519	0.0754:0.0:0.9246:0.0	.	193;193	B4DXG6;Q15120	.;PDK3_HUMAN	M	193	ENSP00000368460:V193M;ENSP00000387536:V193M	ENSP00000368460:V193M	V	+	1	0	PDK3	24433318	1.000000	0.71417	0.302000	0.25058	0.577000	0.36160	9.761000	0.98940	1.253000	0.44018	0.600000	0.82982	GTG		0.458	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391	
PRKD1	5587	hgsc.bcm.edu	37	14	30107998	30107998	+	Missense_Mutation	SNP	G	G	A			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr14:30107998G>A	ENST00000331968.5	-	5	1038	c.809C>T	c.(808-810)cCg>cTg	p.P270L	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Missense_Mutation_p.P278L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	270					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.P270L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAATGTGTGCGGCACTTTAAC	0.468																																																2	Substitution - Missense(2)	ovary(2)	14											97.0	92.0	94.0					14																	30107998		2203	4300	6503	29177749	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.809C>T	14.37:g.30107998G>A	ENSP00000333568:p.Pro270Leu		29177749	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279086	0.80692	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.85171	-1.95;-1.95	5.4	5.4	0.78164	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92805	0.6259	10	0.87932	D	0	-18.5697	19.5253	0.95203	0.0:0.0:1.0:0.0	.	270	Q15139	KPCD1_HUMAN	L	270;278	ENSP00000333568:P270L;ENSP00000390535:P278L	ENSP00000333568:P270L	P	-	2	0	PRKD1	29177749	1.000000	0.71417	0.987000	0.45799	0.377000	0.30045	9.695000	0.98691	2.696000	0.92011	0.650000	0.86243	CCG		0.468	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
RIF1	55183	hgsc.bcm.edu	37	2	152325066	152325066	+	Splice_Site	SNP	G	G	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr2:152325066G>C	ENST00000243326.5	+	31	7308		c.e31+1		RIF1_ENST00000430328.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000428287.2_Intron|RIF1_ENST00000444746.2_Splice_Site			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1						fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.?(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GAAGTGTTTAGTAAGAAGTGC	0.358																																																1	Unknown(1)	ovary(1)	2											155.0	161.0	159.0					2																	152325066		2203	4300	6503	152033312	SO:0001630	splice_region_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6825+1G>C	2.37:g.152325066G>C			152033312	A0AVS0|Q9NS16	Splice_Site	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582869	0.86748	.	.	ENSG00000080345	ENST00000444746;ENST00000243326	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6454	0.95775	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIF1	152033312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.950000	0.93019	2.736000	0.93811	0.591000	0.81541	.		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		Intron
RIMBP2	23504	hgsc.bcm.edu	37	12	130897166	130897166	+	Missense_Mutation	SNP	A	A	G			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr12:130897166A>G	ENST00000261655.4	-	15	2982	c.2819T>C	c.(2818-2820)aTa>aCa	p.I940T		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	940					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I940T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCGCTTACCTATTTTCTCCAC	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											108.0	103.0	105.0					12																	130897166		2203	4300	6503	129463119	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2819T>C	12.37:g.130897166A>G	ENSP00000261655:p.Ile940Thr		129463119	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895435	0.52121	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.45668	1.95;0.89	5.06	-1.85	0.07784	Src homology-3 domain (1);	0.560962	0.18188	N	0.148926	T	0.28267	0.0698	L	0.32530	0.975	0.80722	D	1	D	0.54601	0.967	B	0.43809	0.432	T	0.09751	-1.0660	10	0.25106	T	0.35	-12.7988	9.8792	0.41222	0.5862:0.0:0.4138:0.0	.	940	O15034	RIMB2_HUMAN	T	940;77	ENSP00000261655:I940T;ENSP00000439030:I77T	ENSP00000261655:I940T	I	-	2	0	RIMBP2	129463119	1.000000	0.71417	0.092000	0.20876	0.962000	0.63368	1.646000	0.37249	-0.640000	0.05495	0.533000	0.62120	ATA		0.493	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
SMARCA1	6594	hgsc.bcm.edu	37	X	128630779	128630779	+	Missense_Mutation	SNP	C	C	T	rs146487129		TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chrX:128630779C>T	ENST00000371122.4	-	12	1703	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R525H|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R525H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	525	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R525H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCATAACCACGCCACATGCA	0.388																																																1	Substitution - Missense(1)	ovary(1)	X						C	HIS/ARG,HIS/ARG	1,3834		0,1,1631,571	155.0	143.0	147.0		1574,1574	5.4	1.0	X	dbSNP_134	147	0,6728		0,0,2428,1872	no	missense,missense	SMARCA1	NM_003069.3,NM_139035.2	29,29	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging,probably-damaging	525/1055,525/1043	128630779	1,10562	2203	4300	6503	128458460	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1574G>A	X.37:g.128630779C>T	ENSP00000360163:p.Arg525His		128458460	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733330	0.89482	2.61E-4	0.0	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.36	5.36	0.76844	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000016	D	0.84884	0.5571	L	0.43646	1.37	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.996;0.987;0.996	D	0.86547	0.1832	10	0.87932	D	0	-7.751	18.2071	0.89858	0.0:1.0:0.0:0.0	.	504;525;525;525	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	525;525;525;504	ENSP00000360162:R525H;ENSP00000360164:R525H;ENSP00000360163:R525H;ENSP00000404275:R504H	ENSP00000360162:R525H	R	-	2	0	SMARCA1	128458460	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.896000	0.63222	2.238000	0.73509	0.422000	0.28245	CGT		0.388	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
VLDLR	7436	hgsc.bcm.edu	37	9	2641485	2641485	+	Missense_Mutation	SNP	A	A	C			TCGA-36-1577-01A-01W-0615-10	TCGA-36-1577-10A-01W-0615-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	6177ca56-3cf2-4210-91bb-5782f2666ecf	b6a874f2-91ae-406f-bbbd-53965ed82c47	g.chr9:2641485A>C	ENST00000382100.3	+	4	790	c.434A>C	c.(433-435)gAt>gCt	p.D145A	VLDLR_ENST00000382099.2_Missense_Mutation_p.D145A|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	145	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.D145A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGTGGAGAAGATGAAGAAAAC	0.463																																																1	Substitution - Missense(1)	ovary(1)	9											269.0	242.0	252.0					9																	2641485		2203	4300	6503	2631485	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.434A>C	9.37:g.2641485A>C	ENSP00000371532:p.Asp145Ala		2631485	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853506	0.91355	.	.	ENSG00000147852	ENST00000382100;ENST00000382099	D;D	0.99220	-5.58;-5.58	6.07	6.07	0.98685	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.56097	D	0.000038	D	0.99764	0.9904	H	0.99689	4.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96772	0.9569	10	0.87932	D	0	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	145;145	Q5VVF5;P98155	.;VLDLR_HUMAN	A	145	ENSP00000371532:D145A;ENSP00000371531:D145A	ENSP00000371531:D145A	D	+	2	0	VLDLR	2631485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	GAT		0.463	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383	
