#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	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_dbSNPPopFreq	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
AASS	10157	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	121756964	121756964	+	Silent	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:121756964G>C	ENST00000393376.1	-	6	830	c.735C>G	c.(733-735)ccC>ccG	p.P245P	AASS_ENST00000417368.2_Silent_p.P245P|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	245	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTAATTCATGGGGCTCCACAT	0.333																																					p.P245P		.											.	AASS	92	0			c.C735G						.						76.0	84.0	81.0					7																	121756964		2203	4300	6503	SO:0001819	synonymous_variant	10157	exon7			TTCATGGGGCTCC	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.735C>G	7.37:g.121756964G>C		94.0	0.0		118.0	19.0	NM_005763	O95462	Silent	SNP	ENST00000393376.1	37	CCDS5783.1																																																																																			.		0.333	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
ADAM17	6868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	9667941	9667941	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:9667941C>T	ENST00000310823.3	-	5	775	c.593G>A	c.(592-594)gGg>gAg	p.G198E	ADAM17_ENST00000497134.1_Missense_Mutation_p.G198E	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	198					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTCTACTAACCCTTTTGGGAG	0.343																																					p.G198E		.											.	ADAM17	659	0			c.G593A						.						144.0	144.0	144.0					2																	9667941		2203	4299	6502	SO:0001583	missense	6868	exon5			ACTAACCCTTTTG	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.593G>A	2.37:g.9667941C>T	ENSP00000309968:p.Gly198Glu	155.0	0.0		92.0	28.0	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	7.292	0.611305	0.14066	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.63096	2.12;-0.02	5.48	3.68	0.42216	.	0.596963	0.18368	N	0.143352	T	0.56848	0.2013	L	0.31664	0.95	0.38154	D	0.938826	D;B;D;B	0.62365	0.991;0.0;0.991;0.0	P;B;P;B	0.55965	0.788;0.001;0.788;0.001	T	0.55302	-0.8162	10	0.02654	T	1	.	12.0942	0.53744	0.0:0.8601:0.0:0.1399	.	198;198;198;198	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	E	198	ENSP00000309968:G198E;ENSP00000418728:G198E	ENSP00000309968:G198E	G	-	2	0	ADAM17	9585392	0.991000	0.36638	0.065000	0.19835	0.187000	0.23431	2.793000	0.47845	0.786000	0.33708	-0.373000	0.07131	GGG	.		0.343	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
ADAM18	8749	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	39537556	39537556	+	Splice_Site	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:39537556G>T	ENST00000265707.5	+	16	1677	c.1632G>T	c.(1630-1632)aaG>aaT	p.K544N	ADAM18_ENST00000379866.1_Splice_Site_p.K520N|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	544	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CCACTTCCAGGGATGTTCTCT	0.333																																					p.K544N		.											.	ADAM18	228	0			c.G1632T						.						77.0	72.0	74.0					8																	39537556		2203	4300	6503	SO:0001630	splice_region_variant	8749	exon16			TTCCAGGGATGTT	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1632-1G>T	8.37:g.39537556G>T		138.0	2.0		154.0	69.0	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354786	0.24512	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.23348	1.91;1.91	4.33	4.33	0.51752	ADAM, cysteine-rich (2);	0.134540	0.34435	N	0.003977	T	0.23886	0.0578	L	0.50919	1.6	0.80722	D	1	B;B	0.18741	0.024;0.03	B;B	0.22152	0.022;0.038	T	0.02821	-1.1106	9	.	.	.	.	12.6441	0.56725	0.0:0.0:1.0:0.0	.	520;544	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	N	544;520;476	ENSP00000265707:K544N;ENSP00000369195:K520N	.	K	+	3	2	ADAM18	39656713	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.336000	0.43938	2.711000	0.92665	0.655000	0.94253	AAG	.		0.333	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	Missense_Mutation
ADAMTS20	80070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	43833853	43833853	+	Silent	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:43833853C>A	ENST00000389420.3	-	17	2309	c.2310G>T	c.(2308-2310)ggG>ggT	p.G770G	ADAMTS20_ENST00000553158.1_Silent_p.G770G|ADAMTS20_ENST00000395541.2_5'Flank	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	770	Spacer.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAAGAAAATTCCCTTCAGCGT	0.294																																					p.G770G		.											.	ADAMTS20	795	0			c.G2310T						.						33.0	27.0	29.0					12																	43833853		2189	4275	6464	SO:0001819	synonymous_variant	80070	exon17			AAAATTCCCTTCA	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2310G>T	12.37:g.43833853C>A		45.0	0.0		38.0	16.0	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																			.		0.294	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ARHGAP23	57636	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	36622999	36622999	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:36622999A>T	ENST00000431231.2	+	7	1143	c.1075A>T	c.(1075-1077)Acc>Tcc	p.T359S	ARHGAP23_ENST00000443378.1_Missense_Mutation_p.T265S|ARHGAP23_ENST00000437668.3_Missense_Mutation_p.T359S	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	359					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						GAGCCGGGCCACCCGTTCTGC	0.706																																					p.T359S		.											.	ARHGAP23	205	0			c.A1075T						.						13.0	18.0	17.0					17																	36622999		691	1584	2275	SO:0001583	missense	57636	exon7			CGGGCCACCCGTT	AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.1075A>T	17.37:g.36622999A>T	ENSP00000393539:p.Thr359Ser	38.0	0.0		108.0	44.0	NM_001199417		Missense_Mutation	SNP	ENST00000431231.2	37	CCDS56027.1	.	.	.	.	.	.	.	.	.	.	A	1.530	-0.544574	0.04024	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.13657	2.57;2.93;2.89	4.46	0.859	0.19036	.	.	.	.	.	T	0.04815	0.0130	N	0.08118	0	0.09310	N	1	B;B	0.21071	0.001;0.051	B;B	0.18561	0.001;0.022	T	0.43653	-0.9378	9	0.09590	T	0.72	.	2.4325	0.04475	0.4123:0.0:0.363:0.2247	.	359;359	Q9P227;Q9P227-2	RHG23_HUMAN;.	S	359;359;265	ENSP00000394153:T359S;ENSP00000393539:T359S;ENSP00000407333:T265S	ENSP00000393539:T359S	T	+	1	0	ARHGAP23	33876525	0.945000	0.32115	0.774000	0.31636	0.320000	0.28249	1.840000	0.39230	0.236000	0.21180	0.454000	0.30748	ACC	.		0.706	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441789.1	XM_290799	
ARHGAP42	143872	ucsc.edu;bcgsc.ca	37	11	100792301	100792301	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr11:100792301T>C	ENST00000298815.8	+	6	566	c.563T>C	c.(562-564)gTc>gCc	p.V188A	ARHGAP42_ENST00000524892.2_Missense_Mutation_p.V154A	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42	188	BAR.				signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						ATTCAAGAGGTCCAAGAAAAA	0.333																																					p.V188A		.											.	.	.	0			c.T563C						.						60.0	48.0	52.0					11																	100792301		692	1588	2280	SO:0001583	missense	143872	exon6			AAGAGGTCCAAGA			11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	ENST00000298815.8:c.563T>C	11.37:g.100792301T>C	ENSP00000298815:p.Val188Ala	173.0	0.0		42.0	4.0	NM_152432	Q96M56	Missense_Mutation	SNP	ENST00000298815.8	37		.	.	.	.	.	.	.	.	.	.	T	16.38	3.107545	0.56291	.	.	ENSG00000165895	ENST00000524892;ENST00000298815;ENST00000531183	T;T;T	0.04862	3.54;3.54;3.54	5.53	4.4	0.53042	IRSp53/MIM homology domain (IMD) (1);	0.117789	0.35615	N	0.003095	T	0.16428	0.0395	M	0.82193	2.58	0.80722	D	1	P	0.45768	0.866	P	0.48089	0.566	T	0.00647	-1.1628	10	0.62326	D	0.03	.	11.3102	0.49360	0.0:0.0712:0.0:0.9288	.	188	A6NI28	RHG42_HUMAN	A	154;188;44	ENSP00000431776:V154A;ENSP00000298815:V188A;ENSP00000434304:V44A	ENSP00000298815:V188A	V	+	2	0	ARHGAP42	100297511	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	7.542000	0.82095	0.935000	0.37341	-0.376000	0.06991	GTC	.		0.333	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152432	
ARID1B	57492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	157502282	157502282	+	Silent	SNP	C	C	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr6:157502282C>G	ENST00000350026.5	+	11	3277	c.3276C>G	c.(3274-3276)gtC>gtG	p.V1092V	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.V1087V|ARID1B_ENST00000367148.1_Silent_p.V1145V|ARID1B_ENST00000346085.5_Silent_p.V1105V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1092	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.		V -> I. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACTCTACGTCTGCGTCAAAG	0.537																																					p.V1105V		.											.	ARID1B	154	0			c.C3315G						.						57.0	56.0	56.0					6																	157502282		2203	4296	6499	SO:0001819	synonymous_variant	57492	exon12			CTACGTCTGCGTC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3276C>G	6.37:g.157502282C>G		40.0	0.0		111.0	40.0	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																			.		0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
ATP10A	57194	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	25953217	25953217	+	Silent	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr15:25953217C>T	ENST00000356865.6	-	12	2592	c.2481G>A	c.(2479-2481)ttG>ttA	p.L827L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	827					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)			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)		GGTGGCTTTGCAACCAGCAGG	0.552																																					p.L827L		.											.	ATP10A	139	0			c.G2481A						.						80.0	74.0	76.0					15																	25953217		2203	4300	6503	SO:0001819	synonymous_variant	57194	exon12			GCTTTGCAACCAG	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.2481G>A	15.37:g.25953217C>T		96.0	2.0		165.0	123.0	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																			.		0.552	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ARNT2	9915	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	80767490	80767490	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr15:80767490T>G	ENST00000303329.4	+	5	713	c.548T>G	c.(547-549)cTg>cGg	p.L183R	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Missense_Mutation_p.L172R|ARNT2_ENST00000527771.1_Missense_Mutation_p.L172R	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	183	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGGAGCACACTGTATGAACAG	0.527																																					p.L183R		.											.	ARNT2	175	0			c.T548G						.						120.0	115.0	117.0					15																	80767490		2203	4300	6503	SO:0001583	missense	9915	exon5			GCACACTGTATGA	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.548T>G	15.37:g.80767490T>G	ENSP00000307479:p.Leu183Arg	111.0	0.0		187.0	153.0	NM_014862	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202645	0.79127	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.19394	2.15	4.5	4.5	0.54988	PAS (2);PAS fold (1);	0.067492	0.56097	D	0.000022	T	0.57257	0.2041	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;0.979	D;D	0.91635	0.999;0.971	T	0.71041	-0.4707	10	0.87932	D	0	.	13.9888	0.64353	0.0:0.0:0.0:1.0	.	183;183	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	R	172;183;183	ENSP00000307479:L183R	ENSP00000307479:L183R	L	+	2	0	ARNT2	78554545	1.000000	0.71417	0.815000	0.32552	0.884000	0.51177	7.149000	0.77396	1.883000	0.54544	0.448000	0.29417	CTG	.		0.527	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
B9D2	80776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	41860879	41860879	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:41860879C>A	ENST00000243578.3	-	4	473	c.254G>T	c.(253-255)aGc>aTc	p.S85I	TGFB1_ENST00000221930.5_5'Flank|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	85	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						GCGGCCAAAGCTGTCCTGGGA	0.652																																					p.S85I		.											.	B9D2	69	0			c.G254T						.						11.0	12.0	12.0					19																	41860879		2198	4289	6487	SO:0001583	missense	80776	exon4			CCAAAGCTGTCCT	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.254G>T	19.37:g.41860879C>A	ENSP00000243578:p.Ser85Ile	32.0	0.0		72.0	43.0	NM_030578		Missense_Mutation	SNP	ENST00000243578.3	37	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	c	12.43	1.935294	0.34189	.	.	ENSG00000123810	ENST00000243578	T	0.72167	-0.63	4.04	2.93	0.34026	.	0.260739	0.36555	N	0.002532	T	0.61324	0.2338	M	0.62723	1.935	0.40152	D	0.976961	B	0.13145	0.007	B	0.10450	0.005	T	0.56347	-0.7994	10	0.20519	T	0.43	.	7.5486	0.27781	0.1623:0.5428:0.2949:0.0	.	85	Q9BPU9	B9D2_HUMAN	I	85	ENSP00000243578:S85I	ENSP00000243578:S85I	S	-	2	0	B9D2	46552719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.127000	0.42035	2.081000	0.62600	0.457000	0.33378	AGC	.		0.652	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578	
BAZ1A	11177	ucsc.edu;bcgsc.ca	37	14	35280226	35280226	+	Missense_Mutation	SNP	T	T	C	rs145884653	byFrequency	TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr14:35280226T>C	ENST00000382422.2	-	4	880	c.553A>G	c.(553-555)Att>Gtt	p.I185V	BAZ1A_ENST00000358716.4_Missense_Mutation_p.I185V|BAZ1A_ENST00000360310.1_Missense_Mutation_p.I185V			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	185					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAGGGATCAATTGCATCTTTT	0.289													T|||	2	0.000399361	0.0015	0.0	5008	,	,		16644	0.0		0.0	False		,,,				2504	0.0				p.I185V		.											.	BAZ1A	291	0			c.A553G						.	T	VAL/ILE,VAL/ILE	6,4396	11.4+/-27.6	0,6,2195	118.0	112.0	114.0		553,553	-8.9	0.8	14	dbSNP_134	114	0,8590		0,0,4295	yes	missense,missense	BAZ1A	NM_013448.2,NM_182648.1	29,29	0,6,6490	CC,CT,TT		0.0,0.1363,0.0462	benign,benign	185/1557,185/1525	35280226	6,12986	2201	4295	6496	SO:0001583	missense	11177	exon5			GATCAATTGCATC	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.553A>G	14.37:g.35280226T>C	ENSP00000371859:p.Ile185Val	136.0	0.0		30.0	4.0	NM_182648	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	T	6.784	0.513709	0.12944	0.001363	0.0	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	T;T;T	0.72051	-0.61;-0.62;-0.62	4.74	-8.95	0.00765	.	0.524687	0.19716	N	0.107696	T	0.49338	0.1551	L	0.56769	1.78	0.30037	N	0.812928	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54715	-0.8252	10	0.06236	T	0.91	.	6.5935	0.22659	0.0:0.3619:0.2267:0.4114	.	185;185	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	V	185	ENSP00000351555:I185V;ENSP00000371859:I185V;ENSP00000353458:I185V	ENSP00000351555:I185V	I	-	1	0	BAZ1A	34349977	0.035000	0.19736	0.801000	0.32222	0.797000	0.45037	-1.697000	0.01910	-1.817000	0.01219	-0.484000	0.04775	ATT	T|1.000;C|0.000		0.289	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
CFAP61	26074	broad.mit.edu;bcgsc.ca	37	20	20150077	20150077	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr20:20150077A>G	ENST00000245957.5	+	13	1434	c.1358A>G	c.(1357-1359)tAc>tGc	p.Y453C	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y453C|C20orf26_ENST00000377306.1_Missense_Mutation_p.Y453C	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		453										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CAGGACCTCTACGTCTTCCAC	0.502																																					p.Y453C		.											.	C20orf26	94	0			c.A1358G						.						95.0	86.0	89.0					20																	20150077		2203	4300	6503	SO:0001583	missense	26074	exon13			ACCTCTACGTCTT																												ENST00000245957.5:c.1358A>G	20.37:g.20150077A>G	ENSP00000245957:p.Tyr453Cys	117.0	1.0		150.0	7.0	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.81|17.81	3.480316|3.480316	0.63849|0.63849	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58133|0.58133	0.2101|0.2101	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.999	T|T	0.63125|0.63125	-0.6707|-0.6707	5|10	.|0.87932	.|D	.|0	.|.	14.0962|14.0962	0.65023|0.65023	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|453;433;453	.|Q8NHU2-3;F8W6K4;Q8NHU2	.|.;.;CT026_HUMAN	A|C	19|393;47;433;453;453;453	.|ENSP00000245957:Y453C;ENSP00000366521:Y453C;ENSP00000414537:Y453C	.|ENSP00000245957:Y453C	T|Y	+|+	1|2	0|0	C20orf26|C20orf26	20098077|20098077	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.631000|0.631000	0.37964|0.37964	4.665000|4.665000	0.61547|0.61547	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ACG|TAC	.		0.502	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
BMP7	655	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	55840845	55840845	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr20:55840845T>A	ENST00000395863.3	-	1	839	c.334A>T	c.(334-336)Agt>Tgt	p.S112C	BMP7_ENST00000395864.3_Missense_Mutation_p.S112C|BMP7_ENST00000450594.2_Missense_Mutation_p.S112C|RP4-813D12.3_ENST00000412321.1_lincRNA	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	112					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCTGGGTACTGAAGACGGCC	0.647																																					p.S112C		.											.	BMP7	187	0			c.A334T						.						24.0	24.0	24.0					20																	55840845		2202	4299	6501	SO:0001583	missense	655	exon1			GGGTACTGAAGAC		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.334A>T	20.37:g.55840845T>A	ENSP00000379204:p.Ser112Cys	61.0	0.0		177.0	79.0	NM_001719	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595492	0.46318	.	.	ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594	T;T;T	0.68479	-0.33;-0.33;-0.33	5.04	5.04	0.67666	Transforming growth factor-beta, N-terminal (1);	0.090404	0.85682	D	0.000000	T	0.69958	0.3169	L	0.49126	1.545	0.38758	D	0.954257	D;B;B	0.54601	0.967;0.21;0.049	P;B;B	0.51055	0.657;0.057;0.051	T	0.76321	-0.3002	10	0.72032	D	0.01	.	14.7775	0.69740	0.0:0.0:0.0:1.0	.	112;112;112	B1AKZ9;P18075;B1AL00	.;BMP7_HUMAN;.	C	112	ENSP00000379204:S112C;ENSP00000379205:S112C;ENSP00000398687:S112C	ENSP00000379204:S112C	S	-	1	0	BMP7	55274252	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	2.865000	0.48412	1.873000	0.54277	0.402000	0.26972	AGT	.		0.647	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
C5orf42	65250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	37186475	37186475	+	Missense_Mutation	SNP	C	C	A	rs373443151		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:37186475C>A	ENST00000508244.1	-	23	4195	c.4102G>T	c.(4102-4104)Gca>Tca	p.A1368S	C5orf42_ENST00000274258.7_Missense_Mutation_p.A249S|C5orf42_ENST00000425232.2_Missense_Mutation_p.A1368S			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1368						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGGGAAATGCTTTCACGAAA	0.328																																					p.A1368S		.											.	C5orf42	94	0			c.G4102T						.						96.0	97.0	97.0					5																	37186475		2203	4300	6503	SO:0001583	missense	65250	exon24			GAAATGCTTTCAC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4102G>T	5.37:g.37186475C>A	ENSP00000421690:p.Ala1368Ser	217.0	0.0		567.0	136.0	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	32	5.112367	0.94339	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.31769	1.56;1.56;1.48;1.51	5.31	5.31	0.75309	.	0.236801	0.28671	N	0.014530	T	0.44095	0.1277	N	0.24115	0.695	0.41303	D	0.987056	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.37478	-0.9704	10	0.45353	T	0.12	.	18.9261	0.92546	0.0:1.0:0.0:0.0	.	1368;249	E9PH94;Q9H799	.;CE042_HUMAN	S	1368;1368;249;416;249	ENSP00000421690:A1368S;ENSP00000389014:A1368S;ENSP00000274258:A249S;ENSP00000424223:A416S	ENSP00000274258:A249S	A	-	1	0	C5orf42	37222232	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.738000	0.68613	2.624000	0.88883	0.655000	0.94253	GCA	.		0.328	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C9	735	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	39306883	39306883	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:39306883T>C	ENST00000263408.4	-	9	1347	c.1252A>G	c.(1252-1254)Agt>Ggt	p.S418G		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	418	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGGTTTTCACTGGTGATGTTT	0.363																																					p.S418G		.											.	C9	90	0			c.A1252G						.						70.0	64.0	66.0					5																	39306883		2203	4300	6503	SO:0001583	missense	735	exon9			TTTCACTGGTGAT		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1252A>G	5.37:g.39306883T>C	ENSP00000263408:p.Ser418Gly	162.0	1.0		178.0	47.0	NM_001737		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	T	1.508	-0.550190	0.03996	.	.	ENSG00000113600	ENST00000263408	D	0.85339	-1.97	4.76	-9.53	0.00575	Membrane attack complex component/perforin (MACPF) domain (3);	1.396170	0.04869	N	0.445587	T	0.68641	0.3023	N	0.11313	0.125	0.09310	N	1	B	0.30973	0.302	B	0.28385	0.089	T	0.62353	-0.6872	10	0.20519	T	0.43	1.0468	15.0326	0.71720	0.0:0.0946:0.1478:0.7576	.	418	P02748	CO9_HUMAN	G	418	ENSP00000263408:S418G	ENSP00000263408:S418G	S	-	1	0	C9	39342640	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.483000	0.06536	-2.985000	0.00281	-0.445000	0.05633	AGT	.		0.363	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		
CABIN1	23523	ucsc.edu;bcgsc.ca	37	22	24479290	24479290	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr22:24479290T>C	ENST00000398319.2	+	20	3243	c.2858T>C	c.(2857-2859)tTc>tCc	p.F953S	CABIN1_ENST00000405822.2_Missense_Mutation_p.F903S|CABIN1_ENST00000263119.5_Missense_Mutation_p.F953S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	953					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGTACAGCTTCCCCAGCAAG	0.567																																					p.F953S		.											.	CABIN1	94	0			c.T2858C						.						87.0	73.0	78.0					22																	24479290		2203	4300	6503	SO:0001583	missense	23523	exon20			ACAGCTTCCCCAG	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2858T>C	22.37:g.24479290T>C	ENSP00000381364:p.Phe953Ser	43.0	0.0		15.0	4.0	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892037	0.52014	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.43294	0.95;0.95;0.95	5.09	4.03	0.46877	.	0.193552	0.47455	D	0.000232	T	0.36166	0.0957	L	0.43152	1.355	0.80722	D	1	P;B	0.35272	0.493;0.361	B;B	0.39465	0.3;0.157	T	0.09122	-1.0689	10	0.33940	T	0.23	.	8.9499	0.35783	0.2973:0.0:0.0:0.7026	.	903;953	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	S	953;903;953	ENSP00000263119:F953S;ENSP00000384694:F903S;ENSP00000381364:F953S	ENSP00000263119:F953S	F	+	2	0	CABIN1	22809290	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.075000	0.57584	0.878000	0.35920	0.477000	0.44152	TTC	.		0.567	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
CADPS	8618	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	62467411	62467411	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:62467411T>A	ENST00000383710.4	-	22	3509	c.3160A>T	c.(3160-3162)Ata>Tta	p.I1054L	CADPS_ENST00000283269.9_Intron|CADPS_ENST00000357948.3_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1054	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCATCATATATAGCAGCCATC	0.383																																					p.I1054L		.											.	CADPS	281	0			c.A3160T						.						178.0	166.0	170.0					3																	62467411		1897	4131	6028	SO:0001583	missense	8618	exon22			CATATATAGCAGC	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3160A>T	3.37:g.62467411T>A	ENSP00000373215:p.Ile1054Leu	207.0	1.0		203.0	113.0	NM_003716	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	3.877	-0.026826	0.07589	.	.	ENSG00000163618	ENST00000383709;ENST00000383710	T	0.29655	1.56	5.52	5.52	0.82312	Munc13 homology 1 (1);	0.109639	0.64402	D	0.000012	T	0.12050	0.0293	N	0.01109	-1.01	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19451	-1.0305	10	0.19590	T	0.45	.	15.9363	0.79712	0.0:0.0:0.0:1.0	.	1054	Q9ULU8	CAPS1_HUMAN	L	1054	ENSP00000373215:I1054L	ENSP00000373214:I1054L	I	-	1	0	CADPS	62442451	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.716000	0.68437	2.225000	0.72522	0.460000	0.39030	ATA	.		0.383	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
CCDC6	8030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	61572436	61572436	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr10:61572436T>G	ENST00000263102.6	-	5	1035	c.804A>C	c.(802-804)gaA>gaC	p.E268D		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	268						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GCCGTTCCACTTCATTCTTTA	0.438			T	RET	NSCLC																																p.E268D		.		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	.	CCDC6	686	0			c.A804C						.						102.0	103.0	103.0					10																	61572436		2203	4300	6503	SO:0001583	missense	8030	exon5			TTCCACTTCATTC	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.804A>C	10.37:g.61572436T>G	ENSP00000263102:p.Glu268Asp	153.0	0.0		96.0	82.0	NM_005436	Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505999	0.64410	.	.	ENSG00000108091	ENST00000263102	D	0.94138	-3.36	5.82	1.51	0.23008	.	0.043090	0.85682	D	0.000000	D	0.95408	0.8509	M	0.74467	2.265	0.58432	D	0.999999	D	0.57257	0.979	D	0.74023	0.982	D	0.94158	0.7412	10	0.72032	D	0.01	-13.4153	9.9544	0.41657	0.0:0.2609:0.0:0.7391	.	268	Q16204	CCDC6_HUMAN	D	268	ENSP00000263102:E268D	ENSP00000263102:E268D	E	-	3	2	CCDC6	61242442	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	0.690000	0.25451	0.374000	0.24650	0.528000	0.53228	GAA	.		0.438	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436	
CFTR	1080	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	117292987	117292987	+	Splice_Site	SNP	T	T	G	rs397508650		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:117292987T>G	ENST00000003084.6	+	24	4095		c.e24+2		CFTR_ENST00000454343.1_Splice_Site	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)						cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GCAGATGAGGTAAGGCTGCTA	0.358									Cystic Fibrosis																												.		.											.	CFTR	518	0			c.3963+2T>G	GRCh37	CS034838	CFTR	S		.						100.0	104.0	103.0					7																	117292987		2203	4300	6503	SO:0001630	splice_region_variant	1080	exon24	Familial Cancer Database	CF	ATGAGGTAAGGCT	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3963+2T>G	7.37:g.117292987T>G		290.0	2.0		130.0	54.0	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Splice_Site	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128984	0.77549	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.891	0.70609	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFTR	117080223	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.344000	0.65981	2.062000	0.61559	0.533000	0.62120	.	.		0.358	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	Intron
CRB2	286204	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	126134509	126134509	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:126134509C>A	ENST00000373631.3	+	9	2491	c.2490C>A	c.(2488-2490)caC>caA	p.H830Q	CRB2_ENST00000373629.2_Missense_Mutation_p.H498Q|CRB2_ENST00000359999.3_Missense_Mutation_p.H830Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	830	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATGACTTCCACTGTACCTGCC	0.627																																					p.H830Q		.											.	CRB2	91	0			c.C2490A						.						148.0	107.0	121.0					9																	126134509		2203	4300	6503	SO:0001583	missense	286204	exon9			CTTCCACTGTACC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2490C>A	9.37:g.126134509C>A	ENSP00000362734:p.His830Gln	91.0	2.0		235.0	97.0	NM_173689	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	11.53	1.665733	0.29604	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.91894	-2.93;-2.93;-2.93	5.41	-1.3	0.09259	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.660559	0.13356	N	0.394044	T	0.79112	0.4391	N	0.10837	0.055	0.20873	N	0.999833	B;B	0.21225	0.006;0.053	B;B	0.15870	0.014;0.008	T	0.65681	-0.6109	10	0.29301	T	0.29	.	5.4809	0.16723	0.0:0.3121:0.253:0.4349	.	830;830	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	Q	830;830;498	ENSP00000353092:H830Q;ENSP00000362734:H830Q;ENSP00000362732:H498Q	ENSP00000353092:H830Q	H	+	3	2	CRB2	125174330	0.000000	0.05858	0.991000	0.47740	0.994000	0.84299	-0.988000	0.03739	-0.215000	0.10063	0.561000	0.74099	CAC	.		0.627	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689	
DCAF4L2	138009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	88886016	88886016	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:88886016G>A	ENST00000319675.3	-	1	280	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	62										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCCCAGCTATGAATCTGGACC	0.512																																					p.H62Y		.											.	DCAF4L2	91	0			c.C184T						.						129.0	119.0	123.0					8																	88886016		2203	4300	6503	SO:0001583	missense	138009	exon1			AGCTATGAATCTG	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.184C>T	8.37:g.88886016G>A	ENSP00000316496:p.His62Tyr	199.0	0.0		544.0	270.0	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	6.232	0.410986	0.11812	.	.	ENSG00000176566	ENST00000319675	T	0.78126	-1.15	1.92	0.997	0.19851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.410508	0.30101	N	0.010409	T	0.49525	0.1562	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37663	-0.9696	10	0.42905	T	0.14	.	4.8635	0.13596	0.2101:0.0:0.7899:0.0	.	62	Q8NA75	DC4L2_HUMAN	Y	62	ENSP00000316496:H62Y	ENSP00000316496:H62Y	H	-	1	0	DCAF4L2	88955132	1.000000	0.71417	0.005000	0.12908	0.018000	0.09664	0.673000	0.25203	-0.061000	0.13110	-0.444000	0.05651	CAT	.		0.512	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
DHRS3	9249	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	12677249	12677249	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:12677249G>T	ENST00000376223.2	-	1	488	c.105C>A	c.(103-105)gaC>gaA	p.D35E	RP11-474O21.5_ENST00000606790.1_lincRNA|DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	35					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCCGCGACAGGTCCCGCAGCT	0.662																																					p.D35E		.											.	DHRS3	91	0			c.C105A						.						61.0	65.0	64.0					1																	12677249		2203	4298	6501	SO:0001583	missense	9249	exon1			CGACAGGTCCCGC	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.105C>A	1.37:g.12677249G>T	ENSP00000365397:p.Asp35Glu	56.0	1.0		133.0	75.0	NM_004753	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	CCDS146.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671885	0.67928	.	.	ENSG00000162496	ENST00000376223	D	0.90133	-2.62	5.05	4.12	0.48240	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81955	0.4932	N	0.08118	0	0.52099	D	0.999943	P;B;P	0.46395	0.877;0.34;0.877	B;B;B	0.43194	0.411;0.171;0.411	T	0.82145	-0.0602	10	0.38643	T	0.18	.	13.7562	0.62937	0.0:0.0:0.8449:0.1551	.	35;35;35	B2R7F3;O75911-2;O75911	.;.;DHRS3_HUMAN	E	35	ENSP00000365397:D35E	ENSP00000365397:D35E	D	-	3	2	DHRS3	12599836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.051000	0.57412	1.066000	0.40716	0.561000	0.74099	GAC	.		0.662	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753	
PGS1	9489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	17	76421607	76421607	+	IGR	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:76421607A>T	ENST00000262764.6	+	0	2201				AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000389840.5_Missense_Mutation_p.W4344R|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.W4316R	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CCGGCCAGCCACACGGTGGTG	0.592																																					p.W4321R	Esophageal Squamous(45;182 1126 10685 43198)	.											.	DNAH17	142	0			c.T12961A						.						44.0	44.0	44.0					17																	76421607		2203	4300	6503	SO:0001628	intergenic_variant	8632	exon80			CCAGCCACACGGT		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76421607A>T		31.0	0.0		100.0	12.0	NM_173628	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681642	0.88542	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.12569	2.67	4.85	4.85	0.62838	.	0.000000	0.51477	D	0.000095	T	0.59932	0.2230	H	0.99870	4.87	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.80018	-0.1558	10	0.87932	D	0	.	14.6095	0.68507	1.0:0.0:0.0:0.0	.	4316	E7EUM8	.	R	4316;4344	ENSP00000374490:W4344R	ENSP00000300671:W4316R	W	-	1	0	DNAH17	73933202	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.208000	0.95075	2.027000	0.59764	0.482000	0.46254	TGG	.		0.592	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419	
ENGASE	64772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	77075702	77075702	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:77075702A>G	ENST00000579016.1	+	4	548	c.548A>G	c.(547-549)cAt>cGt	p.H183R	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	183						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GCCCACAGGCATGGGGTCTGC	0.597																																					p.H183R		.											.	ENGASE	91	0			c.A548G						.						79.0	96.0	90.0					17																	77075702		2125	4219	6344	SO:0001583	missense	64772	exon4			ACAGGCATGGGGT	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.548A>G	17.37:g.77075702A>G	ENSP00000462333:p.His183Arg	65.0	0.0		197.0	82.0	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178780	0.38511	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	5.22	5.22	0.72569	Glycoside hydrolase, family 85 (1);	0.162195	0.53938	D	0.000042	T	0.69378	0.3104	M	0.75085	2.285	0.80722	D	1	B;B	0.19817	0.031;0.039	B;B	0.29176	0.037;0.099	T	0.70189	-0.4940	9	0.72032	D	0.01	-7.8611	13.9551	0.64142	1.0:0.0:0.0:0.0	.	183;183	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	R	183	.	ENSP00000308158:H183R	H	+	2	0	ENGASE	74587297	1.000000	0.71417	0.907000	0.35723	0.551000	0.35334	8.455000	0.90355	2.091000	0.63221	0.533000	0.62120	CAT	.		0.597	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	
ERBB2IP	55914	broad.mit.edu;bcgsc.ca	37	5	65288707	65288707	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:65288707A>G	ENST00000284037.5	+	3	550	c.161A>G	c.(160-162)gAt>gGt	p.D54G	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D54G|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D54G|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D54G|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D54G|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D54G|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.D54G|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D54G|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D54G|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D54G	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	54					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTCTATTTAGATGCTAATCAG	0.308																																					p.D54G		.											.	ERBB2IP	653	0			c.A161G						.						40.0	43.0	42.0					5																	65288707		2203	4300	6503	SO:0001583	missense	55914	exon3			ATTTAGATGCTAA		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.161A>G	5.37:g.65288707A>G	ENSP00000284037:p.Asp54Gly	82.0	0.0		46.0	4.0	NM_001253701	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516944	0.85495	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.40225	1.23;1.24;1.35;1.23;1.43;1.04;1.3;1.23;1.62;1.04	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	N	0.26130	0.795	0.80722	D	1	D;D;D;D;P;D;D;D	0.89917	0.994;0.999;1.0;1.0;0.541;1.0;1.0;0.999	D;D;D;D;P;D;D;D	0.87578	0.965;0.996;0.987;0.998;0.532;0.996;0.994;0.997	T	0.57797	-0.7749	10	0.87932	D	0	.	15.6031	0.76639	1.0:0.0:0.0:0.0	.	54;54;54;54;54;54;54;54	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	G	54	ENSP00000284037:D54G;ENSP00000370330:D54G;ENSP00000397833:D54G;ENSP00000370326:D54G;ENSP00000370323:D54G;ENSP00000370322:D54G;ENSP00000370325:D54G;ENSP00000422766:D54G;ENSP00000426632:D54G;ENSP00000422015:D54G	ENSP00000284037:D54G	D	+	2	0	ERBB2IP	65324463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.233000	0.95337	2.090000	0.63153	0.533000	0.62120	GAT	.		0.308	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
ERAP2	64167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	96219543	96219543	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:96219543T>C	ENST00000437043.3	+	3	1334	c.623T>C	c.(622-624)tTc>tCc	p.F208S	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.F208S|ERAP2_ENST00000510309.1_Missense_Mutation_p.F208S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	208					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CGCATGGCTTTCCCTTGCTTT	0.443																																					p.F208S		.											.	ERAP2	68	0			c.T623C						.						93.0	86.0	89.0					5																	96219543		2203	4300	6503	SO:0001583	missense	64167	exon3			TGGCTTTCCCTTG	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.623T>C	5.37:g.96219543T>C	ENSP00000400376:p.Phe208Ser	250.0	0.0		175.0	149.0	NM_001130140	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532548	0.85812	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.08370	3.65;3.65;3.65;3.1;3.65	5.13	3.97	0.46021	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.069403	0.56097	D	0.000023	T	0.44912	0.1316	H	0.99130	4.44	0.35165	D	0.771068	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.69000	-0.5261	10	0.87932	D	0	.	9.8751	0.41197	0.0:0.0827:0.0:0.9173	.	208;208	Q6P179-3;Q6P179	.;ERAP2_HUMAN	S	208	ENSP00000400376:F208S;ENSP00000421175:F208S;ENSP00000421849:F208S;ENSP00000369235:F208S;ENSP00000425758:F208S	ENSP00000369235:F208S	F	+	2	0	ERAP2	96245299	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	4.610000	0.61155	0.901000	0.36495	0.455000	0.32223	TTC	.		0.443	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	
EXO1	9156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	242045224	242045224	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:242045224G>A	ENST00000366548.3	+	14	2709	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	EXO1_ENST00000348581.5_Missense_Mutation_p.D706N|EXO1_ENST00000518483.1_Missense_Mutation_p.D706N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	706	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTAGGAATCTGATTGCAATAT	0.303								Editing and processing nucleases																													p.D706N		.											.	EXO1	661	0			c.G2116A						.						53.0	52.0	53.0					1																	242045224		2203	4296	6499	SO:0001583	missense	9156	exon14			GAATCTGATTGCA	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2116G>A	1.37:g.242045224G>A	ENSP00000355506:p.Asp706Asn	467.0	1.0		210.0	77.0	NM_130398	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078429	0.36662	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.39229	1.22;1.22;1.09	4.77	4.77	0.60923	.	0.312666	0.36134	N	0.002774	T	0.51381	0.1671	M	0.71581	2.175	0.39135	D	0.961937	D;P;D	0.56521	0.976;0.921;0.976	P;P;P	0.51742	0.477;0.678;0.601	T	0.51576	-0.8688	10	0.28530	T	0.3	-37.7005	13.4964	0.61428	0.0:0.0:1.0:0.0	.	705;706;706	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	N	706	ENSP00000355506:D706N;ENSP00000311873:D706N;ENSP00000430251:D706N	ENSP00000311873:D706N	D	+	1	0	EXO1	240111847	1.000000	0.71417	0.998000	0.56505	0.498000	0.33706	4.550000	0.60733	2.636000	0.89361	0.655000	0.94253	GAT	.		0.303	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	
FAM124B	79843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	225266346	225266346	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:225266346C>G	ENST00000409685.3	-	1	405	c.140G>C	c.(139-141)cGg>cCg	p.R47P	FAM124B_ENST00000243806.2_Missense_Mutation_p.R47P|FAM124B_ENST00000389874.3_Missense_Mutation_p.R47P	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	47										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGGACTGGCCCGTTCAGACAC	0.572																																					p.R47P		.											.	FAM124B	92	0			c.G140C						.						47.0	49.0	49.0					2																	225266346		2203	4300	6503	SO:0001583	missense	79843	exon1			CTGGCCCGTTCAG	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.140G>C	2.37:g.225266346C>G	ENSP00000386895:p.Arg47Pro	59.0	0.0		65.0	53.0	NM_024785	A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695087	0.68386	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.55052	0.54;0.54;0.54	5.81	5.81	0.92471	.	0.052994	0.64402	D	0.000001	T	0.76637	0.4015	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	0.986;1.0	D;D	0.79784	0.927;0.993	T	0.78398	-0.2219	10	0.66056	D	0.02	-33.1611	20.0628	0.97684	0.0:1.0:0.0:0.0	.	47;47	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	P	47	ENSP00000374524:R47P;ENSP00000386895:R47P;ENSP00000243806:R47P	ENSP00000243806:R47P	R	-	2	0	FAM124B	224974590	0.968000	0.33430	0.386000	0.26170	0.075000	0.17131	7.294000	0.78760	2.745000	0.94114	0.655000	0.94253	CGG	.		0.572	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785	
FAM198B	51313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	159048703	159048703	+	Silent	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:159048703A>T	ENST00000296530.8	-	5	2037	c.1416T>A	c.(1414-1416)tcT>tcA	p.S472S	FAM198B_ENST00000585682.1_Silent_p.S472S|FAM198B_ENST00000393807.5_Silent_p.S480S	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	472						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CAAGAAACAGAGACTGAAGAA	0.363																																					p.S480S		.											.	FAM198B	90	0			c.T1440A						.						95.0	96.0	96.0					4																	159048703		2203	4300	6503	SO:0001819	synonymous_variant	51313	exon6			AAACAGAGACTGA		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1416T>A	4.37:g.159048703A>T		134.0	0.0		76.0	64.0	NM_001031700	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																			.		0.363	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
FAM20A	54757	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	66533757	66533757	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:66533757A>G	ENST00000592554.1	-	11	2209	c.1487T>C	c.(1486-1488)cTt>cCt	p.L496P	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	496					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					ATCCAGGGCAAGGAGGTGGGG	0.582																																					p.L496P		.											.	FAM20A	90	0			c.T1487C						.						95.0	72.0	80.0					17																	66533757		2203	4300	6503	SO:0001583	missense	54757	exon11			AGGGCAAGGAGGT	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1487T>C	17.37:g.66533757A>G	ENSP00000468308:p.Leu496Pro	149.0	1.0		242.0	85.0	NM_017565	B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.003614	0.54254	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.54	5.54	0.83059	.	0.138313	0.50627	D	0.000111	T	0.74199	0.3685	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.72459	-0.4287	9	0.33940	T	0.23	-17.5857	15.686	0.77411	1.0:0.0:0.0:0.0	.	496	Q96MK3	FA20A_HUMAN	P	496;100	.	ENSP00000226094:L496P	L	-	2	0	FAM20A	64045352	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	5.667000	0.68067	2.095000	0.63458	0.454000	0.30748	CTT	.		0.582	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565	
FASN	2194	bcgsc.ca;mdanderson.org	37	17	80051491	80051491	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_1	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:80051491A>G	ENST00000306749.2	-	4	655	c.437T>C	c.(436-438)tTc>tCc	p.F146S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	146	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GTCGAAGAAGAAGGAGAGCCG	0.652																																					p.F146S	Colon(59;314 1043 11189 28578 32273)	.											.	FASN	90	0			c.T437C						.						52.0	56.0	55.0					17																	80051491		2199	4299	6498	SO:0001583	missense	2194	exon4			AAGAAGAAGGAGA	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.437T>C	17.37:g.80051491A>G	ENSP00000304592:p.Phe146Ser	40.0	1.0		79.0	41.0	NM_004104	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064322	0.76187	.	.	ENSG00000169710	ENST00000306749	T	0.26660	1.72	4.62	3.49	0.39957	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.145674	0.47455	D	0.000232	T	0.36580	0.0972	L	0.45581	1.43	0.47214	D	0.999353	D	0.69078	0.997	D	0.65140	0.932	T	0.14117	-1.0484	10	0.87932	D	0	-44.3616	7.2697	0.26250	0.5273:0.0:0.0:0.4727	.	146	P49327	FAS_HUMAN	S	146	ENSP00000304592:F146S	ENSP00000304592:F146S	F	-	2	0	FASN	77644780	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.346000	0.59367	1.726000	0.51525	0.459000	0.35465	TTC	.		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	
FBXO42	54455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	16577289	16577289	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:16577289C>A	ENST00000375592.3	-	10	2246	c.2030G>T	c.(2029-2031)aGc>aTc	p.S677I		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	677										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGTATGCAGGCTGGTTTCAGG	0.458																																					p.S677I		.											.	FBXO42	228	0			c.G2030T						.						186.0	178.0	181.0					1																	16577289		2203	4300	6503	SO:0001583	missense	54455	exon10			TGCAGGCTGGTTT	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2030G>T	1.37:g.16577289C>A	ENSP00000364742:p.Ser677Ile	236.0	0.0		393.0	133.0	NM_018994	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103104	0.76983	.	.	ENSG00000037637	ENST00000375592	T	0.03745	3.82	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.60949	-0.7161	10	0.23891	T	0.37	-16.1142	18.7865	0.91957	0.0:1.0:0.0:0.0	.	677	Q6P3S6	FBX42_HUMAN	I	677	ENSP00000364742:S677I	ENSP00000364742:S677I	S	-	2	0	FBXO42	16449876	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.587000	0.82613	2.767000	0.95098	0.655000	0.94253	AGC	.		0.458	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1		
FEV	54738	broad.mit.edu;bcgsc.ca	37	2	219846741	219846741	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:219846741T>C	ENST00000295727.1	-	3	946	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	LINC00608_ENST00000432733.1_lincRNA	NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	122					cell differentiation (GO:0030154)|neuron fate specification (GO:0048665)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGTAGGCGTAGCGCTTGCC	0.682			T	"""EWSR1,  FUS"""	Ewing sarcoma																																p.Y122C	NSCLC(198;941 2228 4658 24163 34665)	.		Dom	yes		2	2q36	54738	FEV protein - (HSRNAFEV)		M	.	FEV	846	0			c.A365G						.						93.0	63.0	73.0					2																	219846741		2203	4300	6503	SO:0001583	missense	54738	exon3			TAGGCGTAGCGCT		CCDS2428.1	2q36	2008-02-05			ENSG00000163497	ENSG00000163497			18562	protein-coding gene	gene with protein product		607150	"""FEV (fifth Ewing variant)"""			9121764	Standard	NM_017521		Approved	Pet-1	uc002vji.1	Q99581	OTTHUMG00000133080	ENST00000295727.1:c.365A>G	2.37:g.219846741T>C	ENSP00000295727:p.Tyr122Cys	68.0	0.0		171.0	8.0	NM_017521		Missense_Mutation	SNP	ENST00000295727.1	37	CCDS2428.1	.	.	.	.	.	.	.	.	.	.	t	21.7	4.194407	0.78902	.	.	ENSG00000163497	ENST00000295727	T	0.25579	1.79	3.47	3.47	0.39725	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.191574	0.35067	U	0.003462	T	0.52224	0.1721	M	0.86178	2.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.59440	-0.7454	10	0.87932	D	0	.	11.0803	0.48055	0.0:0.0:0.0:1.0	.	122	Q99581	FEV_HUMAN	C	122	ENSP00000295727:Y122C	ENSP00000295727:Y122C	Y	-	2	0	FEV	219554985	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.941000	0.70195	1.447000	0.47661	0.375000	0.23000	TAC	.		0.682	FEV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256725.1		
GABRA4	2557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	4	46930408	46930408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:46930408G>T	ENST00000264318.3	-	9	2481	c.1499C>A	c.(1498-1500)tCa>tAa	p.S500*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	500					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGAGTAGCTGACAACTTCCC	0.468																																					p.S500X	Ovarian(6;283 369 8234 12290 33402)	.											.	GABRA4	156	0			c.C1499A						.						166.0	155.0	158.0					4																	46930408		2203	4300	6503	SO:0001587	stop_gained	2557	exon9			GTAGCTGACAACT		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1499C>A	4.37:g.46930408G>T	ENSP00000264318:p.Ser500*	196.0	1.0		99.0	63.0	NM_000809	Q8IYR7	Nonsense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	42	9.806889	0.99268	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.82	5.82	0.92795	.	1.208420	0.05585	N	0.573544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	17.2702	0.87099	0.0:0.0:1.0:0.0	.	.	.	.	X	500	.	ENSP00000264318:S500X	S	-	2	0	GABRA4	46625165	1.000000	0.71417	0.016000	0.15963	0.002000	0.02628	5.713000	0.68415	2.765000	0.95021	0.650000	0.86243	TCA	.		0.468	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
GJC1	10052	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	42883077	42883077	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:42883077C>G	ENST00000426548.1	-	3	378	c.109G>C	c.(109-111)Gct>Cct	p.A37P	GJC1_ENST00000590758.1_Missense_Mutation_p.A37P|GJC1_ENST00000592524.1_Missense_Mutation_p.A37P|GJC1_ENST00000330514.4_Missense_Mutation_p.A37P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	37					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CCTCCTACAGCTGTAAGGACG	0.483																																					p.A37P		.											.	GJC1	248	0			c.G109C						.						108.0	89.0	95.0					17																	42883077		2203	4300	6503	SO:0001583	missense	10052	exon3			CTACAGCTGTAAG	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.109G>C	17.37:g.42883077C>G	ENSP00000411528:p.Ala37Pro	139.0	0.0		230.0	96.0	NM_005497	B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230285	0.79688	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.99194	-5.54;-5.54	5.26	5.26	0.73747	Connexin, N-terminal (1);	0.056597	0.64402	D	0.000001	D	0.99299	0.9755	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99357	1.0916	10	0.66056	D	0.02	.	17.8787	0.88833	0.0:1.0:0.0:0.0	.	37	P36383	CXG1_HUMAN	P	37	ENSP00000411528:A37P;ENSP00000333193:A37P	ENSP00000333193:A37P	A	-	1	0	GJC1	40238603	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.818000	0.86416	2.458000	0.83093	0.455000	0.32223	GCT	.		0.483	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
GLB1	2720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	33106973	33106973	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:33106973C>T	ENST00000307377.8	-	3	382	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	GLB1_ENST00000399402.3_Silent_p.G148G|GLB1_ENST00000445488.2_Silent_p.G226G|GLB1_ENST00000307363.5_Silent_p.G178G	NM_001135602.1	NP_001129074	P16278	BGAL_HUMAN	galactosidase, beta 1	0					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTATAACTGGCCCTCCATTCT	0.468																																					p.A108T		.											.	GLB1	135	0			c.G322A						.						57.0	63.0	61.0					3																	33106973		1941	4117	6058	SO:0001583	missense	2720	exon3			AACTGGCCCTCCA	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000307377.8:c.322G>A	3.37:g.33106973C>T	ENSP00000305920:p.Ala108Thr	314.0	0.0		428.0	230.0	NM_001135602	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000307377.8	37	CCDS46785.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500002	0.44455	.	.	ENSG00000170266	ENST00000307377	D	0.97924	-4.61	6.01	-1.38	0.09027	.	.	.	.	.	D	0.93419	0.7901	.	.	.	0.80722	D	1	B	0.21071	0.051	B	0.19946	0.027	T	0.82786	-0.0285	8	0.54805	T	0.06	-19.1601	1.3747	0.02218	0.1315:0.2644:0.2826:0.3215	.	108	E7EQ29	.	T	108	ENSP00000305920:A108T	ENSP00000305920:A108T	A	-	1	0	GLB1	33081977	0.003000	0.15002	0.825000	0.32803	0.980000	0.70556	-1.147000	0.03188	-0.611000	0.05709	0.650000	0.86243	GCC	.		0.468	GLB1-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341571.1	NM_000404	
GSE1	23199	hgsc.bcm.edu;bcgsc.ca	37	16	85687939	85687940	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr16:85687939_85687940delCG	ENST00000253458.7	+	4	658_659	c.482_483delCG	c.(481-483)ccgfs	p.P161fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.P57fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.P88fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	161																	GTGGAGCCCCCGCTCCCTCAGG	0.673																																					p.161_161del		.											.	.	.	0			c.482_483del						.																																			SO:0001589	frameshift_variant	23199	exon4			AGCCCCCGCTCCC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.482_483delCG	16.37:g.85687939_85687940delCG	ENSP00000253458:p.Pro161fs	94.0	0.0		148.0	121.0	NM_014615	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	CCDS10952.1																																																																																			.		0.673	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615	
GUK1	2987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	228336430	228336430	+	3'UTR	SNP	C	C	T	rs373687915		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:228336430C>T	ENST00000366718.1	+	0	1053				GUK1_ENST00000366726.1_3'UTR|GUK1_ENST00000366730.1_3'UTR|GUK1_ENST00000470040.1_3'UTR|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000391865.3_3'UTR|GUK1_ENST00000366721.1_3'UTR|GUK1_ENST00000366728.2_Silent_p.P201P|GUK1_ENST00000366722.1_Missense_Mutation_p.H235Y|GUK1_ENST00000312726.4_3'UTR|GUK1_ENST00000366716.1_3'UTR|GUK1_ENST00000366723.1_3'UTR	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				ACCCCGGGCCCATACAGGACC	0.622																																					p.P201P		.											.	GUK1	115	0			c.C603T						.						34.0	33.0	34.0					1																	228336430		2203	4300	6503	SO:0001624	3_prime_UTR_variant	2987	exon7			CGGGCCCATACAG	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.*32C>T	1.37:g.228336430C>T		20.0	0.0		101.0	49.0	NM_001242840	B1ANH1	Silent	SNP	ENST00000366718.1	37	CCDS1568.1	.	.	.	.	.	.	.	.	.	.	c	10.77	1.442873	0.25987	.	.	ENSG00000143774	ENST00000366722	T	0.32753	1.44	2.51	1.47	0.22746	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.29671	-1.0004	6	0.87932	D	0	.	3.2312	0.06749	0.0:0.6251:0.0:0.3749	.	.	.	.	Y	235	ENSP00000355683:H235Y	ENSP00000355683:H235Y	H	+	1	0	GUK1	226403053	0.000000	0.05858	0.012000	0.15200	0.044000	0.14063	0.083000	0.14871	0.497000	0.27926	0.457000	0.33378	CAT	.		0.622	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858	
HAND2	9464	hgsc.bcm.edu;bcgsc.ca	37	4	174450187	174450187	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:174450187G>T	ENST00000359562.4	-	1	1193	c.254C>A	c.(253-255)cCg>cAg	p.P85Q	HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000502334.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	85					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cccggcgcccggcggcacccc	0.751																																					p.P85Q		.											.	HAND2	91	0			c.C254A						.						5.0	6.0	6.0					4																	174450187		1696	3627	5323	SO:0001583	missense	9464	exon1			GCGCCCGGCGGCA	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.254C>A	4.37:g.174450187G>T	ENSP00000352565:p.Pro85Gln	7.0	0.0		22.0	22.0	NM_021973	B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986756	0.35036	.	.	ENSG00000164107	ENST00000359562;ENST00000535864	D	0.96856	-4.15	3.89	3.89	0.44902	.	0.197781	0.43747	D	0.000540	D	0.93602	0.7957	N	0.08118	0	0.42338	D	0.992326	D;P	0.71674	0.998;0.938	D;P	0.65010	0.931;0.535	D	0.90729	0.4641	10	0.13470	T	0.59	-13.708	12.475	0.55807	0.0:0.1699:0.8301:0.0	.	85;85	B6ECG9;P61296	.;HAND2_HUMAN	Q	85;33	ENSP00000352565:P85Q	ENSP00000352565:P85Q	P	-	2	0	HAND2	174686762	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	7.307000	0.78920	2.002000	0.58637	0.462000	0.41574	CCG	.		0.751	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3		
HEPH	9843	broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	65393436	65393436	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chrX:65393436C>G	ENST00000343002.2	+	3	1082	c.418C>G	c.(418-420)Cta>Gta	p.L140V	HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000441993.2_Missense_Mutation_p.L143V|HEPH_ENST00000519389.1_Missense_Mutation_p.L194V|HEPH_ENST00000419594.1_Missense_Mutation_p.L143V|HEPH_ENST00000374727.3_Missense_Mutation_p.L143V			Q9BQS7	HEPH_HUMAN	hephaestin	140	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTAGGTTCCCTATACCCAGA	0.502																																					p.L194V		.											.	HEPH	135	0			c.C580G						.						78.0	67.0	71.0					X																	65393436		2203	4300	6503	SO:0001583	missense	9843	exon4			GGTTCCCTATACC	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.418C>G	X.37:g.65393436C>G	ENSP00000343939:p.Leu140Val	34.0	0.0		51.0	13.0	NM_138737	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	c	14.19	2.462346	0.43736	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09	3.91	-0.258	0.12975	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.97567	0.9203	L	0.41079	1.255	0.29518	N	0.853734	D;D;D	0.89917	0.988;0.99;1.0	P;D;D	0.83275	0.893;0.931;0.996	D	0.94273	0.7512	10	0.13108	T	0.6	.	8.1883	0.31352	0.0:0.4649:0.0:0.5351	.	194;143;140	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	V	194;143;140;143;143;140;140	ENSP00000430620:L194V;ENSP00000363859:L143V;ENSP00000396907:L140V;ENSP00000411687:L143V;ENSP00000413211:L143V;ENSP00000343939:L140V;ENSP00000398078:L140V	ENSP00000343939:L140V	L	+	1	2	HEPH	65310161	0.143000	0.22626	0.989000	0.46669	0.645000	0.38454	0.168000	0.16622	-0.121000	0.11787	-0.196000	0.12772	CTA	.		0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737	
HOXC8	3224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	54405067	54405067	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:54405067G>T	ENST00000040584.4	+	2	868	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	211					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						GAACAACAAGGATAAACTGCC	0.488																																					p.D211Y	GBM(197;701 2226 7002 18822 41696)	.											.	HOXC8	91	0			c.G631T						.						79.0	86.0	84.0					12																	54405067		2203	4300	6503	SO:0001583	missense	3224	exon2			AACAAGGATAAAC	X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.631G>T	12.37:g.54405067G>T	ENSP00000040584:p.Asp211Tyr	43.0	0.0		146.0	33.0	NM_022658	A8K4J4|O15221|O15362	Missense_Mutation	SNP	ENST00000040584.4	37	CCDS8870.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957836	0.73902	.	.	ENSG00000037965	ENST00000040584	D	0.91237	-2.81	5.16	5.16	0.70880	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91324	0.7264	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.67725	0.953	D	0.92922	0.6356	10	0.87932	D	0	.	17.7934	0.88562	0.0:0.0:1.0:0.0	.	211	P31273	HXC8_HUMAN	Y	211	ENSP00000040584:D211Y	ENSP00000040584:D211Y	D	+	1	0	HOXC8	52691334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.567000	0.86603	0.650000	0.86243	GAT	.		0.488	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358957.2		
IFI16	3428	hgsc.bcm.edu;bcgsc.ca	37	1	159015214	159015214	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:159015214A>T	ENST00000295809.7	+	8	1712	c.1457A>T	c.(1456-1458)cAg>cTg	p.Q486L	IFI16_ENST00000359709.3_Missense_Mutation_p.Q430L|IFI16_ENST00000368131.4_Missense_Mutation_p.Q486L|IFI16_ENST00000430894.2_Missense_Mutation_p.Q434L|IFI16_ENST00000340979.6_Intron|IFI16_ENST00000448393.2_Intron|IFI16_ENST00000368132.3_Intron			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	486					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CACACTCCTCAGATGCCTCCA	0.478																																					p.Q430L		.											.	IFI16	91	0			c.A1289T						.						124.0	120.0	121.0					1																	159015214		2202	4284	6486	SO:0001583	missense	3428	exon7			CTCCTCAGATGCC	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1457A>T	1.37:g.159015214A>T	ENSP00000295809:p.Gln486Leu	1314.0	0.0		1731.0	213.0	NM_001206567	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37		.	.	.	.	.	.	.	.	.	.	a	1.178	-0.638839	0.03557	.	.	ENSG00000163565	ENST00000295809;ENST00000368131;ENST00000430894	T;T;T	0.05717	3.42;3.4;3.5	2.63	-5.26	0.02772	.	.	.	.	.	T	0.00815	0.0027	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.23852	0.049	T	0.23476	-1.0187	9	0.34782	T	0.22	.	3.9175	0.09230	0.1604:0.5035:0.2113:0.1248	.	434	E7EPR3	.	L	486;486;434	ENSP00000295809:Q486L;ENSP00000357113:Q486L;ENSP00000394935:Q434L	ENSP00000295809:Q486L	Q	+	2	0	IFI16	157281838	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.652000	0.00856	-3.111000	0.00241	-1.386000	0.01163	CAG	.		0.478	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531	
ITGAV	3685	broad.mit.edu;bcgsc.ca	37	2	187540575	187540575	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:187540575T>C	ENST00000261023.3	+	28	3123	c.2849T>C	c.(2848-2850)cTg>cCg	p.L950P	ITGAV_ENST00000374907.3_Missense_Mutation_p.L914P|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.L904P	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	950					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TCCTATTCTCTGAAGTCGTCT	0.333																																					p.L950P	Melanoma(58;108 1995 6081)	.											.	ITGAV	653	0			c.T2849C						.						67.0	68.0	68.0					2																	187540575		2203	4299	6502	SO:0001583	missense	3685	exon28			ATTCTCTGAAGTC		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2849T>C	2.37:g.187540575T>C	ENSP00000261023:p.Leu950Pro	297.0	0.0		117.0	5.0	NM_002210	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	CCDS2292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.182383|4.182383	0.78677|0.78677	.|.	.|.	ENSG00000138448|ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736|ENST00000430709	T;T;T|.	0.61158|.	0.13;0.13;0.13|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.082565|.	0.49305|.	D|.	0.000150|.	T|.	0.74222|.	0.3688|.	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.996;1.0;0.996|.	P;D;P|.	0.79108|.	0.853;0.992;0.853|.	T|.	0.75542|.	-0.3281|.	10|.	0.87932|.	D|.	0|.	.|.	14.6821|14.6821	0.69026|0.69026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	904;914;950|.	E7EWZ6;P06756-2;P06756|.	.;.;ITAV_HUMAN|.	P|R	950;914;904|101	ENSP00000261023:L950P;ENSP00000364042:L914P;ENSP00000404291:L904P|.	ENSP00000261023:L950P|.	L|X	+|+	2|1	0|0	ITGAV|ITGAV	187248820|187248820	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.759000|4.759000	0.62227|0.62227	2.061000|2.061000	0.61500|0.61500	0.460000|0.460000	0.39030|0.39030	CTG|TGA	.		0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	
KCNA1	3736	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	5021299	5021299	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:5021299A>G	ENST00000382545.3	+	2	1862	c.755A>G	c.(754-756)aAc>aGc	p.N252S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	252					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TTCTTCAAAAACATCATGAAC	0.522																																					p.N252S		.											.	KCNA1	228	0			c.A755G						.						85.0	81.0	82.0					12																	5021299		2203	4300	6503	SO:0001583	missense	3736	exon2			TCAAAAACATCAT	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.755A>G	12.37:g.5021299A>G	ENSP00000371985:p.Asn252Ser	96.0	2.0		262.0	117.0	NM_000217	A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.270928	0.23221	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96774	-4.12	4.97	4.97	0.65823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	N	0.05608	-0.01	0.80722	D	1	B	0.18013	0.025	B	0.16722	0.016	D	0.86870	0.2035	10	0.33141	T	0.24	.	14.2907	0.66275	1.0:0.0:0.0:0.0	.	252	Q09470	KCNA1_HUMAN	S	252	ENSP00000371985:N252S	ENSP00000228858:N252S	N	+	2	0	KCNA1	4891560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.272000	0.78516	2.209000	0.71365	0.533000	0.62120	AAC	.		0.522	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217	
KCNAB1	7881	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	156009791	156009791	+	Intron	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:156009791T>A	ENST00000490337.1	+	2	339				KCNAB1_ENST00000302490.8_Missense_Mutation_p.V32E|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.V32E	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCCCCCAATGTGGTGAACGCA	0.572																																					p.V32E		.											.	KCNAB1	94	0			c.T95A						.						68.0	64.0	65.0					3																	156009791		2203	4300	6503	SO:0001627	intron_variant	7881	exon1			CCAATGTGGTGAA	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129614T>A	3.37:g.156009791T>A		141.0	0.0		313.0	27.0	NM_172159	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.915197	0.52546	.	.	ENSG00000169282	ENST00000302490;ENST00000389634	T;T	0.09163	3.34;3.01	4.89	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.06188	0.0160	N	0.22421	0.69	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.26121	-1.0112	10	0.09084	T	0.74	.	8.2737	0.31860	0.0:0.1663:0.0:0.8337	.	32;32	F8W6W4;B3KPZ4	.;.	E	32	ENSP00000305858:V32E;ENSP00000374285:V32E	ENSP00000305858:V32E	V	+	2	0	KCNAB1	157492485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.019000	0.70818	0.722000	0.32252	0.377000	0.23210	GTG	.		0.572	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
KCNJ12	3768	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	17	21319829	21319829	+	Missense_Mutation	SNP	C	C	A	rs541946650	byFrequency	TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:21319829C>A	ENST00000583088.1	+	3	2070	c.1175C>A	c.(1174-1176)gCg>gAg	p.A392E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A392E	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	392					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GAGGATGAGGCGGACGGAGAC	0.657										Prostate(3;0.18)																											p.A392E		.											.	.	.	0			c.C1175A						.						62.0	59.0	60.0					17																	21319829		2203	4300	6503	SO:0001583	missense	100134444	exon3			ATGAGGCGGACGG	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1175C>A	17.37:g.21319829C>A	ENSP00000463778:p.Ala392Glu	25.0	0.0		100.0	21.0	NM_001194958	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.504482	0.00992	.	.	ENSG00000184185	ENST00000331718	D	0.86694	-2.16	5.83	-1.89	0.07689	.	0.777035	0.12187	N	0.491524	T	0.51007	0.1649	N	0.00583	-1.355	0.24571	N	0.993925	B	0.02656	0.0	B	0.04013	0.001	T	0.55309	-0.8161	10	0.02654	T	1	.	1.7021	0.02874	0.3082:0.1572:0.0873:0.4473	.	392	Q14500	IRK12_HUMAN	E	392	ENSP00000328150:A392E	ENSP00000328150:A392E	A	+	2	0	KCNJ12	21260422	0.126000	0.22350	0.009000	0.14445	0.375000	0.29983	0.559000	0.23485	-0.590000	0.05866	-0.136000	0.14681	GCG	.		0.657	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
KDELR1	10945	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	48886580	48886580	+	Silent	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:48886580T>C	ENST00000330720.2	-	5	803	c.609A>G	c.(607-609)ctA>ctG	p.L203L	KDELR1_ENST00000597017.1_Silent_p.L141L	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	203					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TCTTCCCCTTTAGGACTGTGA	0.622																																					p.L203L		.											.	KDELR1	90	0			c.A609G						.						31.0	24.0	26.0					19																	48886580		2144	4148	6292	SO:0001819	synonymous_variant	10945	exon5			CCCCTTTAGGACT	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.609A>G	19.37:g.48886580T>C		49.0	0.0		107.0	56.0	NM_006801	B2R6N4|Q54A39|Q8NBW7	Silent	SNP	ENST00000330720.2	37	CCDS12718.1																																																																																			.		0.622	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1		
KIAA1109	84162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	123268886	123268886	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:123268886G>C	ENST00000264501.4	+	76	13454	c.13081G>C	c.(13081-13083)Gct>Cct	p.A4361P	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4361P			Q2LD37	K1109_HUMAN	KIAA1109	4361					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAATCCCCAGCTTCCATAAG	0.448																																					p.A4361P		.											.	KIAA1109	80	0			c.G13081C						.						122.0	122.0	122.0					4																	123268886		2020	4169	6189	SO:0001583	missense	84162	exon74			TCCCCAGCTTCCA	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13081G>C	4.37:g.123268886G>C	ENSP00000264501:p.Ala4361Pro	138.0	0.0		60.0	17.0	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.215852|5.215852	0.95104|0.95104	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.33654|.	2.39;2.39;1.4|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58119|0.58119	0.2100|0.2100	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.85130|.	0.997;0.996|.	T|T	0.48210|0.48210	-0.9055|-0.9055	10|5	0.33141|.	T|.	0.24|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4360;4361|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	P|H	4361;4361;1030|736	ENSP00000264501:A4361P;ENSP00000373390:A4361P;ENSP00000410874:A1030P|.	ENSP00000264501:A4361P|.	A|Q	+|+	1|3	0|2	KIAA1109|KIAA1109	123488336|123488336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.211000|7.211000	0.77933|0.77933	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCT|CAG	.		0.448	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1244	57221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	138550956	138550956	+	Silent	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr6:138550956T>C	ENST00000251691.4	+	5	553	c.387T>C	c.(385-387)gaT>gaC	p.D129D		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAACATTTGATCTGAATGGGA	0.443																																					p.D129D		.											.	KIAA1244	228	0			c.T387C						.						194.0	159.0	171.0					6																	138550956		2203	4300	6503	SO:0001819	synonymous_variant	57221	exon5			ATTTGATCTGAAT	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.387T>C	6.37:g.138550956T>C		302.0	0.0		406.0	181.0	NM_020340		Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																			.		0.443	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
KISS1	3814	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	1	204159887	204159887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:204159887C>A	ENST00000367194.4	-	3	290	c.142G>T	c.(142-144)Gag>Tag	p.E48*		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	48					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		AGGCTCTGCTCCCCGGGGGCC	0.687																																					p.E48X		.											.	KISS1	947	0			c.G142T						.						10.0	12.0	11.0					1																	204159887		1449	3362	4811	SO:0001587	stop_gained	3814	exon3			TCTGCTCCCCGGG	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.142G>T	1.37:g.204159887C>A	ENSP00000356162:p.Glu48*	26.0	0.0		101.0	50.0	NM_002256	A8K6N0|Q9HBP1	Nonsense_Mutation	SNP	ENST00000367194.4	37	CCDS41454.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276141	0.59649	.	.	ENSG00000170498	ENST00000367194	.	.	.	4.87	2.97	0.34412	.	0.660246	0.12998	N	0.421909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-14.1018	12.0686	0.53603	0.0:0.6678:0.3322:0.0	.	.	.	.	X	48	.	ENSP00000356162:E48X	E	-	1	0	KISS1	202426510	0.594000	0.26849	0.005000	0.12908	0.003000	0.03518	1.169000	0.31871	0.557000	0.29117	-0.121000	0.15023	GAG	.		0.687	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256	
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	4	55599301	55599301	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:55599301T>A	ENST00000288135.5	+	17	2524	c.2427T>A	c.(2425-2427)tgT>tgA	p.C809*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	809	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGATTTGTGATTTTGGTC	0.388		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.C809X		.	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	.	KIT	20166	0			c.T2427A						.						131.0	133.0	132.0					4																	55599301		2203	4300	6503	SO:0001587	stop_gained	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GATTTGTGATTTT	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2427T>A	4.37:g.55599301T>A	ENSP00000288135:p.Cys809*	174.0	0.0		82.0	17.0	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Nonsense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	38	7.059608	0.98036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	.	.	.	5.62	-2.43	0.06522	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0215	0.47720	0.0:0.4074:0.0:0.5926	.	.	.	.	X	809;805	.	ENSP00000288135:C809X	C	+	3	2	KIT	55294058	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	1.047000	0.30367	-0.392000	0.07751	-0.361000	0.07541	TGT	.		0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KRT6C	286887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	52863028	52863028	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:52863028T>A	ENST00000252250.6	-	9	1560	c.1513A>T	c.(1513-1515)Agt>Tgt	p.S505C		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	505	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCTAAGCCACTGCCGACACCG	0.602																																					p.S505C		.											.	KRT6C	114	0			c.A1513T						.						45.0	43.0	44.0					12																	52863028		2203	4299	6502	SO:0001583	missense	286887	exon9			AGCCACTGCCGAC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1513A>T	12.37:g.52863028T>A	ENSP00000252250:p.Ser505Cys	72.0	0.0		135.0	29.0	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	T	8.854	0.945401	0.18356	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.87809	-2.3	3.17	-0.525	0.11917	.	0.508870	0.18334	N	0.144390	T	0.80752	0.4683	L	0.61218	1.895	0.19945	N	0.999943	B	0.09022	0.002	B	0.09377	0.004	T	0.67393	-0.5682	10	0.39692	T	0.17	.	4.9899	0.14209	0.1383:0.3436:0.0:0.5181	.	505	P48668	K2C6C_HUMAN	C	505;490	ENSP00000252250:S505C	ENSP00000252250:S505C	S	-	1	0	KRT6C	51149295	0.000000	0.05858	0.009000	0.14445	0.126000	0.20510	-2.726000	0.00808	0.020000	0.15106	-0.660000	0.03859	AGT	.		0.602	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	
KY	339855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	134369796	134369796	+	Silent	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:134369796G>A	ENST00000423778.2	-	1	68	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	KY_ENST00000503669.1_Silent_p.L3L|KY_ENST00000508956.1_Silent_p.L3L	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	3					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TCCTTCTTCAGCTCCATGATG	0.652																																					p.L3L		.											.	KY	24	0			c.C7T						.						56.0	62.0	60.0					3																	134369796		2111	4225	6336	SO:0001819	synonymous_variant	339855	exon1			TCTTCAGCTCCAT	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.7C>T	3.37:g.134369796G>A		138.0	0.0		325.0	85.0	NM_178554	B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	CCDS46920.1																																																																																			.		0.652	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554	
LAMB3	3914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	209789918	209789918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:209789918G>A	ENST00000356082.4	-	22	3414	c.3280C>T	c.(3280-3282)Cag>Tag	p.Q1094*	LAMB3_ENST00000391911.1_Nonsense_Mutation_p.Q1094*|LAMB3_ENST00000367030.3_Nonsense_Mutation_p.Q1094*	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1094	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGGAACTCTGACCCAACCGG	0.488																																					p.Q1094X		.											.	LAMB3	156	0			c.C3280T						.						157.0	149.0	151.0					1																	209789918		2203	4300	6503	SO:0001587	stop_gained	3914	exon22			AACTCTGACCCAA	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3280C>T	1.37:g.209789918G>A	ENSP00000348384:p.Gln1094*	166.0	0.0		631.0	221.0	NM_000228	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Nonsense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094827	0.94197	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	.	.	.	3.91	2.95	0.34219	.	1.007520	0.07981	U	0.985576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4611	0.21956	0.0:0.2041:0.5857:0.2102	.	.	.	.	X	1094	.	ENSP00000348384:Q1094X	Q	-	1	0	LAMB3	207856541	0.028000	0.19301	0.007000	0.13788	0.185000	0.23345	2.092000	0.41700	0.810000	0.34279	0.449000	0.29647	CAG	.		0.488	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
LAMC3	10319	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	133948175	133948175	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:133948175T>A	ENST00000361069.4	+	19	3503	c.3370T>A	c.(3370-3372)Tcc>Acc	p.S1124T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1124	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGTGCTGGAGTCCTCGGAAGA	0.637																																					p.S1124T		.											.	LAMC3	93	0			c.T3370A						.						32.0	34.0	34.0					9																	133948175		2203	4300	6503	SO:0001583	missense	10319	exon19			CTGGAGTCCTCGG	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3370T>A	9.37:g.133948175T>A	ENSP00000354360:p.Ser1124Thr	94.0	0.0		283.0	127.0	NM_006059	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	T	4.268	0.048908	0.08243	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.27557	1.66	4.97	2.46	0.29980	.	0.420127	0.27122	N	0.020825	T	0.26846	0.0657	M	0.70595	2.14	0.23559	N	0.997413	B	0.33345	0.409	B	0.30646	0.118	T	0.23190	-1.0195	10	0.10111	T	0.7	.	9.8917	0.41294	0.0:0.0:0.3313:0.6687	.	1124	Q9Y6N6	LAMC3_HUMAN	T	1124	ENSP00000354360:S1124T	ENSP00000347156:S1124T	S	+	1	0	LAMC3	132937996	0.960000	0.32886	0.553000	0.28255	0.932000	0.56968	1.458000	0.35223	0.278000	0.22164	0.454000	0.30748	TCC	.		0.637	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
LONP1	9361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	19	5699211	5699211	+	Silent	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:5699211G>A	ENST00000360614.3	-	10	1669	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	LONP1_ENST00000540670.2_Silent_p.F308F|LONP1_ENST00000593119.1_Silent_p.F440F|LONP1_ENST00000590729.1_Silent_p.F374F|LONP1_ENST00000585374.1_Silent_p.F390F	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAACGGCAATGAACTCCTGCA	0.637																																					p.S504S		.											.	LONP1	91	0			c.C1512T						.						36.0	37.0	37.0					19																	5699211		2203	4300	6503	SO:0001819	synonymous_variant	9361	exon10			GGCAATGAACTCC	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1512C>T	19.37:g.5699211G>A		22.0	0.0		43.0	27.0	NM_004793		Silent	SNP	ENST00000360614.3	37	CCDS12148.1																																																																																			.		0.637	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793	
LRPPRC	10128	broad.mit.edu;mdanderson.org	37	2	44201378	44201378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:44201378G>A	ENST00000260665.7	-	9	1123	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*	LRPPRC_ENST00000409946.1_Nonsense_Mutation_p.Q356*|LRPPRC_ENST00000409659.1_Nonsense_Mutation_p.Q356*	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	356					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTAAAATTTGCAACGCTACA	0.368																																					p.Q356X		.											.	LRPPRC	93	0			c.C1066T						.						76.0	76.0	76.0					2																	44201378		2203	4300	6503	SO:0001587	stop_gained	10128	exon9			AAATTTGCAACGC	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1066C>T	2.37:g.44201378G>A	ENSP00000260665:p.Gln356*	409.0	1.0		594.0	29.0	NM_133259	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Nonsense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230576	0.39399	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	.	.	.	6.08	3.2	0.36748	.	0.593195	0.18537	N	0.138333	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-14.3758	9.4757	0.38869	0.0745:0.4211:0.5044:0.0	.	.	.	.	X	256;356;356;356;330	.	ENSP00000260665:Q356X	Q	-	1	0	LRPPRC	44054882	0.011000	0.17503	0.007000	0.13788	0.111000	0.19643	0.794000	0.26958	0.393000	0.25203	0.591000	0.81541	CAA	.		0.368	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	141250227	141250227	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:141250227C>T	ENST00000389484.3	-	57	10041	c.9070G>A	c.(9070-9072)Gag>Aag	p.E3024K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3024					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTTATCTCATGATGATCA	0.343										TSP Lung(27;0.18)																											p.E3024K	Colon(99;50 2074 2507 20106)	.											.	LRP1B	311	0			c.G9070A						.						206.0	182.0	190.0					2																	141250227		2203	4300	6503	SO:0001583	missense	53353	exon57			TTATCTCATGATG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9070G>A	2.37:g.141250227C>T	ENSP00000374135:p.Glu3024Lys	113.0	0.0		59.0	15.0	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602309	0.66445	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91180	-2.8	5.11	5.11	0.69529	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.91126	0.7206	L	0.55103	1.725	0.51233	D	0.999912	D	0.61697	0.99	P	0.54759	0.76	D	0.88043	0.2782	10	0.06099	T	0.92	.	18.5004	0.90879	0.0:1.0:0.0:0.0	.	3024	Q9NZR2	LRP1B_HUMAN	K	3024;2962	ENSP00000374135:E3024K	ENSP00000374135:E3024K	E	-	1	0	LRP1B	140966697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.674000	0.61612	2.373000	0.80994	0.460000	0.39030	GAG	.		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRRC45	201255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	79982609	79982609	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:79982609A>G	ENST00000306688.3	+	3	665	c.323A>G	c.(322-324)aAa>aGa	p.K108R	STRA13_ENST00000583767.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000392359.3_5'Flank|STRA13_ENST00000584347.1_5'Flank|STRA13_ENST00000580435.1_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	108						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCTCTGGGAAAACTCCTCCAA	0.612																																					p.K108R		.											.	LRRC45	91	0			c.A323G						.						56.0	61.0	60.0					17																	79982609		2202	4299	6501	SO:0001583	missense	201255	exon3			TGGGAAAACTCCT	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.323A>G	17.37:g.79982609A>G	ENSP00000306760:p.Lys108Arg	51.0	0.0		108.0	46.0	NM_144999		Missense_Mutation	SNP	ENST00000306688.3	37	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.936767	0.34189	.	.	ENSG00000169683	ENST00000306688	T	0.53640	0.61	3.36	2.26	0.28386	.	0.282465	0.32343	N	0.006239	T	0.35393	0.0930	L	0.41961	1.31	0.36463	D	0.86679	P	0.35745	0.518	B	0.35182	0.197	T	0.28650	-1.0037	9	.	.	.	-5.6332	8.5755	0.33597	0.9045:0.0:0.0955:0.0	.	108	Q96CN5	LRC45_HUMAN	R	108	ENSP00000306760:K108R	.	K	+	2	0	LRRC45	77575898	1.000000	0.71417	0.688000	0.30117	0.835000	0.47333	2.765000	0.47621	0.480000	0.27534	0.379000	0.24179	AAA	.		0.612	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999	
MAP4K5	11183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	50915494	50915494	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr14:50915494T>C	ENST00000013125.4	-	15	1390	c.1072A>G	c.(1072-1074)Atg>Gtg	p.M358V	RP11-406H23.2_ENST00000555257.1_lincRNA	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	358					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATTCTTACCATTTCATCTCGT	0.284																																					p.M358V		.											.	MAP4K5	546	0			c.A1072G						.						82.0	76.0	78.0					14																	50915494		1801	4063	5864	SO:0001583	missense	11183	exon15			TTACCATTTCATC	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1072A>G	14.37:g.50915494T>C	ENSP00000013125:p.Met358Val	200.0	0.0		39.0	29.0	NM_006575	Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37		.	.	.	.	.	.	.	.	.	.	T	10.38	1.334513	0.24253	.	.	ENSG00000012983	ENST00000013125	T	0.12879	2.64	5.79	4.64	0.57946	Protein kinase-like domain (1);	0.091042	0.64402	N	0.000001	T	0.13586	0.0329	L	0.51422	1.61	0.45528	D	0.998486	B;B;B	0.22480	0.0;0.036;0.07	B;B;B	0.22753	0.0;0.041;0.016	T	0.05649	-1.0872	10	0.24483	T	0.36	.	10.9645	0.47403	0.0:0.0742:0.0:0.9258	.	32;358;358	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	V	358	ENSP00000013125:M358V	ENSP00000013125:M358V	M	-	1	0	MAP4K5	49985244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.266000	0.51569	0.996000	0.38943	0.533000	0.62120	ATG	.		0.284	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575	
MASP2	10747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	11107262	11107262	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:11107262C>T	ENST00000400897.3	-	1	18	c.3G>A	c.(1-3)atG>atA	p.M1I	MASP2_ENST00000400898.3_Start_Codon_SNP_p.M1I	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	1					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CCACCTACCTCATGGTGTGCC	0.687																																					p.M1I	GBM(35;611 746 20780 22741 36496)	.											.	MASP2	94	0			c.G3A						.						42.0	33.0	36.0					1																	11107262		2186	4280	6466	SO:0001582	initiator_codon_variant	10747	exon1			CTACCTCATGGTG	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.3G>A	1.37:g.11107262C>T	ENSP00000383690:p.Met1Ile	47.0	0.0		112.0	36.0	NM_139208	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	CCDS123.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050751	0.75960	.	.	ENSG00000009724	ENST00000400897;ENST00000400898	D;T	0.83250	-1.7;1.09	3.64	3.64	0.41730	.	0.657423	0.15194	N	0.275363	D	0.89044	0.6603	.	.	.	0.80722	D	1	P;P	0.52577	0.954;0.924	D;P	0.63597	0.916;0.827	D	0.88996	0.3418	9	0.72032	D	0.01	.	11.1267	0.48322	0.0:1.0:0.0:0.0	.	1;1	O00187-2;O00187	.;MASP2_HUMAN	I	1	ENSP00000383690:M1I;ENSP00000383691:M1I	ENSP00000383690:M1I	M	-	3	0	MASP2	11029849	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.074000	0.41529	2.321000	0.78463	0.655000	0.94253	ATG	.		0.687	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610	Missense_Mutation
MBD3	53615	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	1578491	1578491	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:1578491C>A	ENST00000434436.3	-	6	853	c.724G>T	c.(724-726)Gcg>Tcg	p.A242S	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_Missense_Mutation_p.A210S|MBD3_ENST00000156825.1_Missense_Mutation_p.A242S|MBD3_ENST00000590550.2_Missense_Mutation_p.A186S|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	242					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCATCAGCGCCTCCTCCAGC	0.667																																					p.A242S		.											.	MBD3	93	0			c.G724T						.						70.0	72.0	71.0					19																	1578491		2203	4300	6503	SO:0001583	missense	53615	exon6			TCAGCGCCTCCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.724G>T	19.37:g.1578491C>A	ENSP00000412302:p.Ala242Ser	39.0	0.0		98.0	20.0	NM_003926	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024505	0.93518	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.99194	-5.54	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.99290	0.9752	M	0.86864	2.845	0.58432	D	0.999998	D;D	0.67145	0.996;0.995	D;D	0.77557	0.99;0.988	D	0.98948	1.0793	10	0.87932	D	0	-40.5947	15.3787	0.74633	0.0:1.0:0.0:0.0	.	210;242	O95983-2;O95983	.;MBD3_HUMAN	S	210;242	ENSP00000156825:A242S	ENSP00000156825:A242S	A	-	1	0	MBD3	1529491	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.542000	0.82095	1.950000	0.56595	0.313000	0.20887	GCG	.		0.667	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926	
MCM10	55388	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	13239672	13239672	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr10:13239672C>T	ENST00000484800.2	+	15	2130	c.2027C>T	c.(2026-2028)aCa>aTa	p.T676I	MCM10_ENST00000378694.1_Missense_Mutation_p.T675I|MCM10_ENST00000378714.3_Missense_Mutation_p.T675I			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	676					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTTACAAAAACAAACCCAAAC	0.408																																					p.T676I		.											.	MCM10	653	0			c.C2027T						.						95.0	88.0	90.0					10																	13239672		2203	4300	6503	SO:0001583	missense	55388	exon15			CAAAAACAAACCC	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2027C>T	10.37:g.13239672C>T	ENSP00000418268:p.Thr676Ile	148.0	0.0		287.0	118.0	NM_182751	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	8.838	0.941562	0.18281	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.29655	1.56;1.56;1.56	5.23	2.32	0.28847	Replication factor Mcm10 (1);	0.398558	0.30859	N	0.008728	T	0.19167	0.0460	L	0.34521	1.04	0.26907	N	0.966989	B;B;B	0.12630	0.006;0.004;0.005	B;B;B	0.17098	0.017;0.004;0.007	T	0.14671	-1.0464	10	0.40728	T	0.16	0.2019	4.1158	0.10081	0.1306:0.5994:0.1265:0.1435	.	675;675;676	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	I	675;676;676;675	ENSP00000367986:T675I;ENSP00000418268:T676I;ENSP00000367966:T675I	ENSP00000354945:T676I	T	+	2	0	MCM10	13279678	0.807000	0.29009	0.994000	0.49952	0.761000	0.43186	0.511000	0.22739	0.283000	0.22279	0.655000	0.94253	ACA	.		0.408	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	
MORF4L2	9643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	102931737	102931737	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chrX:102931737C>A	ENST00000441076.2	-	4	523	c.219G>T	c.(217-219)agG>agT	p.R73S	MORF4L2_ENST00000451301.1_Missense_Mutation_p.R73S|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R73S|MORF4L2_ENST00000423833.2_Missense_Mutation_p.R73S|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R73S|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R73S|MORF4L2_ENST00000492116.1_5'UTR	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	73					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTCTGGTCTTCCTCACGGATC	0.567																																					p.R73S		.											.	MORF4L2	130	0			c.G219T						.						66.0	57.0	60.0					X																	102931737		2203	4300	6503	SO:0001583	missense	9643	exon5			GGTCTTCCTCACG	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.219G>T	X.37:g.102931737C>A	ENSP00000391969:p.Arg73Ser	82.0	0.0		219.0	206.0	NM_001142422	B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173156	0.21704	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	4.52	3.66	0.41972	.	0.109692	0.38837	N	0.001545	T	0.15089	0.0364	N	0.24115	0.695	0.34938	D	0.749982	B	0.26081	0.141	B	0.18263	0.021	T	0.15607	-1.0431	10	0.07482	T	0.82	-16.8622	7.308	0.26459	0.0:0.8813:0.0:0.1187	.	73	Q15014	MO4L2_HUMAN	S	73;73;73;73;55;73;73;73;73;73	ENSP00000353643:R73S;ENSP00000415476:R73S;ENSP00000394417:R73S;ENSP00000410532:R73S;ENSP00000391969:R73S;ENSP00000416120:R73S	ENSP00000353643:R73S	R	-	3	2	MORF4L2	102818393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.687000	0.46976	1.244000	0.43870	0.600000	0.82982	AGG	.		0.567	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286	
MYCBP2	23077	broad.mit.edu;bcgsc.ca	37	13	77641991	77641991	+	Silent	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr13:77641991A>G	ENST00000544440.2	-	71	12083	c.12066T>C	c.(12064-12066)tcT>tcC	p.S4022S	MYCBP2_ENST00000357337.6_Silent_p.S4022S|MYCBP2_ENST00000407578.2_Silent_p.S4060S					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCTTAGTAAAGAGGTTACCT	0.373																																					p.S4060S		.											.	MYCBP2	236	0			c.T12180C						.						57.0	59.0	58.0					13																	77641991		2202	4300	6502	SO:0001819	synonymous_variant	23077	exon71			TAGTAAAGAGGTT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12066T>C	13.37:g.77641991A>G		85.0	0.0		56.0	5.0	NM_015057		Silent	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	A	7.626	0.677910	0.14841	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.81	-1.81	0.07882	.	.	.	.	.	T	0.39627	0.1085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28650	-1.0037	4	.	.	.	.	1.5984	0.02669	0.3626:0.0854:0.3001:0.2518	.	.	.	.	L	443	.	.	F	-	1	0	MYCBP2	76539992	0.934000	0.31675	0.993000	0.49108	0.983000	0.72400	-0.003000	0.12901	-0.244000	0.09639	0.454000	0.30748	TTT	.		0.373	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
MYO18B	84700	ucsc.edu;bcgsc.ca	37	22	26422560	26422560	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr22:26422560A>G	ENST00000407587.2	+	43	6792	c.6623A>G	c.(6622-6624)gAc>gGc	p.D2208G	MYO18B_ENST00000335473.7_Missense_Mutation_p.D2207G|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2207G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2207						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATTTTGGGGACGGCGAAGTG	0.557																																					p.D2207G		.											.	MYO18B	142	0			c.A6620G						.						40.0	44.0	42.0					22																	26422560		1923	4120	6043	SO:0001583	missense	84700	exon43			TTGGGGACGGCGA	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6623A>G	22.37:g.26422560A>G	ENSP00000386096:p.Asp2208Gly	42.0	0.0		45.0	4.0	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.67|14.67	2.603537|2.603537	0.46423|0.46423	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88896|.	-2.42;-2.42;-2.44|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.343884|.	0.21068|.	N|.	0.080720|.	T|T	0.57755|0.57755	0.2075|0.2075	L|L	0.54323|0.54323	1.7|1.7	0.34110|0.34110	D|D	0.662921|0.662921	B;B;B;B;B|.	0.09022|.	0.0;0.001;0.001;0.002;0.001|.	B;B;B;B;B|.	0.08055|.	0.001;0.001;0.001;0.003;0.001|.	T|T	0.67937|0.67937	-0.5541|-0.5541	10|5	0.41790|.	T|.	0.15|.	.|.	12.38|12.38	0.55301|0.55301	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1720;2209;2207;2208;2207|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	G|A	2207;2207;2208|157	ENSP00000441229:D2207G;ENSP00000334563:D2207G;ENSP00000386096:D2208G|.	ENSP00000334563:D2207G|.	D|T	+|+	2|1	0|0	MYO18B|MYO18B	24752560|24752560	0.052000|0.052000	0.20516|0.20516	0.408000|0.408000	0.26446|0.26446	0.232000|0.232000	0.25224|0.25224	0.655000|0.655000	0.24933|0.24933	2.009000|2.009000	0.58944|0.58944	0.482000|0.482000	0.46254|0.46254	GAC|ACG	.		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
NFE2	4778	ucsc.edu;bcgsc.ca;mdanderson.org	37	12	54687079	54687079	+	Silent	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:54687079G>T	ENST00000540264.2	-	2	710	c.201C>A	c.(199-201)ccC>ccA	p.P67P	NFE2_ENST00000553070.1_Silent_p.P67P|NFE2_ENST00000312156.4_Silent_p.P67P|NFE2_ENST00000435572.2_Silent_p.P67P|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	67	Required for interaction with MAPK8. {ECO:0000250}.|Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGATTGAGCAGGGGCAGTAAG	0.557																																					p.P67P		.											.	NFE2	226	0			c.C201A						.						144.0	158.0	153.0					12																	54687079		2203	4300	6503	SO:0001819	synonymous_variant	4778	exon4			TGAGCAGGGGCAG	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.201C>A	12.37:g.54687079G>T		389.0	2.0		1042.0	450.0	NM_001261461	Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	37	CCDS8876.1																																																																																			.		0.557	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163	
NCOR2	9612	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	124829344	124829344	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:124829344C>T	ENST00000405201.1	-	32	4513	c.4513G>A	c.(4513-4515)Gag>Aag	p.E1505K	NCOR2_ENST00000404621.1_Missense_Mutation_p.E1495K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1066K|NCOR2_ENST00000356219.3_Missense_Mutation_p.E1512K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1496K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E1495K			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1513					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGGCTCTCCTCGTAGCAGGCA	0.716																																					p.E1505K		.											.	NCOR2	229	0			c.G4513A						.						12.0	16.0	15.0					12																	124829344		1871	3961	5832	SO:0001583	missense	9612	exon34			TCTCCTCGTAGCA	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4513G>A	12.37:g.124829344C>T	ENSP00000384018:p.Glu1505Lys	17.0	0.0		72.0	18.0	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960726	0.53400	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	4.36	4.36	0.52297	.	0.121187	0.53938	D	0.000049	T	0.69984	0.3172	M	0.75264	2.295	0.58432	D	0.999995	D;D;D	0.76494	0.998;0.998;0.999	P;P;P	0.61201	0.824;0.771;0.885	T	0.76258	-0.3025	10	0.87932	D	0	-14.6558	16.8679	0.86033	0.0:1.0:0.0:0.0	.	1495;1496;1505	C9J0Q5;C9J239;C9JFD3	.;.;.	K	1505;1495;1512;1496;1504;1066;1495	ENSP00000384018:E1505K;ENSP00000384202:E1495K;ENSP00000348551:E1512K;ENSP00000380513:E1496K;ENSP00000385618:E1066K;ENSP00000400281:E1495K	ENSP00000348551:E1512K	E	-	1	0	NCOR2	123395297	1.000000	0.71417	0.634000	0.29324	0.084000	0.17831	6.657000	0.74402	1.982000	0.57802	0.484000	0.47621	GAG	.		0.716	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
NLRP2	55655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55493601	55493601	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:55493601A>T	ENST00000543010.1	+	6	678	c.535A>T	c.(535-537)Agc>Tgc	p.S179C	NLRP2_ENST00000263437.6_Missense_Mutation_p.S176C|NLRP2_ENST00000448584.2_Missense_Mutation_p.S179C|NLRP2_ENST00000391721.4_Missense_Mutation_p.S155C|NLRP2_ENST00000339757.7_Missense_Mutation_p.S157C|NLRP2_ENST00000427260.2_Missense_Mutation_p.S156C|NLRP2_ENST00000538819.1_Missense_Mutation_p.S155C|NLRP2_ENST00000537859.1_Missense_Mutation_p.S157C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	179					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTGGAGATAGCAAAGAGGT	0.507																																					p.S179C		.											.	NLRP2	120	0			c.A535T						.						160.0	172.0	168.0					19																	55493601		2203	4300	6503	SO:0001583	missense	55655	exon6			GGAGATAGCAAAG	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.535A>T	19.37:g.55493601A>T	ENSP00000445135:p.Ser179Cys	104.0	0.0		240.0	124.0	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475578	0.26511	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74737	-0.82;-0.74;-0.77;-0.82;-0.77;-0.87;-0.74;0.5	2.05	-2.01	0.07410	.	1.244490	0.06057	N	0.657629	T	0.68933	0.3055	N	0.24115	0.695	0.09310	N	1	D;D;D;D;D	0.76494	0.991;0.998;0.996;0.995;0.999	P;P;P;P;P	0.61722	0.706;0.893;0.784;0.846;0.864	T	0.56432	-0.7980	10	0.54805	T	0.06	.	0.136	0.00078	0.3483:0.2418:0.1717:0.2383	.	156;157;176;155;179	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	C	179;155;157;179;157;156;155;176	ENSP00000445135:S179C;ENSP00000375601:S155C;ENSP00000344074:S157C;ENSP00000409370:S179C;ENSP00000440601:S157C;ENSP00000402474:S156C;ENSP00000441133:S155C;ENSP00000263437:S176C	ENSP00000263437:S176C	S	+	1	0	NLRP2	60185413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.155000	0.10115	-0.629000	0.05575	0.402000	0.26972	AGC	.		0.507	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
NRCAM	4897	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	107807387	107807387	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:107807387C>T	ENST00000425651.2	-	27	3444	c.3445G>A	c.(3445-3447)Gat>Aat	p.D1149N	NRCAM_ENST00000379022.4_Missense_Mutation_p.D1149N|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379028.3_Missense_Mutation_p.D1149N|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000351718.4_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1149	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.			D -> G (in Ref. 9; CAA04507). {ECO:0000305}.	angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCAAACACATCCTCTGAACTC	0.567																																					p.D1149N		.											.	NRCAM	156	0			c.G3445A						.						51.0	56.0	55.0					7																	107807387		2059	4200	6259	SO:0001583	missense	4897	exon27			ACACATCCTCTGA		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3445G>A	7.37:g.107807387C>T	ENSP00000401244:p.Asp1149Asn	81.0	1.0		188.0	19.0	NM_001037132	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372335	0.42003	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000425651;ENST00000379022	T;T;T	0.58797	0.31;0.31;0.33	5.67	4.79	0.61399	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.436435	0.28052	N	0.016785	T	0.49779	0.1577	L	0.51422	1.61	0.49389	D	0.999789	B	0.16396	0.017	B	0.10450	0.005	T	0.42999	-0.9418	10	0.23891	T	0.37	.	12.0758	0.53643	0.0:0.8613:0.0:0.1387	.	1149	Q92823	NRCAM_HUMAN	N	1149	ENSP00000368314:D1149N;ENSP00000401244:D1149N;ENSP00000368308:D1149N	ENSP00000368308:D1149N	D	-	1	0	NRCAM	107594623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.472000	0.60189	1.535000	0.49220	0.643000	0.83706	GAT	.		0.567	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
NRCAM	4897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	107836240	107836240	+	Silent	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:107836240A>G	ENST00000425651.2	-	12	1427	c.1428T>C	c.(1426-1428)tgT>tgC	p.C476C	NRCAM_ENST00000379022.4_Silent_p.C476C|NRCAM_ENST00000413765.2_Silent_p.C457C|NRCAM_ENST00000379028.3_Silent_p.C476C|NRCAM_ENST00000379024.4_Silent_p.C457C|NRCAM_ENST00000351718.4_Silent_p.C470C	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	476	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAAAGAAGGCACAGTCTAGTA	0.413																																					p.C476C		.											.	NRCAM	156	0			c.T1428C						.						138.0	119.0	126.0					7																	107836240		2203	4300	6503	SO:0001819	synonymous_variant	4897	exon12			GAAGGCACAGTCT		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1428T>C	7.37:g.107836240A>G		223.0	0.0		359.0	177.0	NM_001037132	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	CCDS47686.1																																																																																			.		0.413	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
NUAK2	81788	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	205272673	205272673	+	Missense_Mutation	SNP	C	C	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:205272673C>G	ENST00000367157.3	-	7	1918	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCAAAGGATCCTGCCGCCAG	0.642																																					p.D598H		.											.	NUAK2	391	0			c.G1792C						.						43.0	46.0	45.0					1																	205272673		2203	4299	6502	SO:0001583	missense	81788	exon7			AAGGATCCTGCCG	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1792G>C	1.37:g.205272673C>G	ENSP00000356125:p.Asp598His	66.0	0.0		215.0	85.0	NM_030952		Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109714	0.37242	.	.	ENSG00000163545	ENST00000367157	T	0.72051	-0.62	4.94	4.94	0.65067	.	0.605913	0.13955	N	0.351229	T	0.58090	0.2098	L	0.29908	0.895	0.09310	N	0.99999	P	0.38642	0.641	B	0.38500	0.275	T	0.55082	-0.8196	10	0.62326	D	0.03	.	6.8782	0.24158	0.0:0.7742:0.0:0.2258	.	598	Q9H093	NUAK2_HUMAN	H	598	ENSP00000356125:D598H	ENSP00000356125:D598H	D	-	1	0	NUAK2	203539296	0.998000	0.40836	0.934000	0.37439	0.830000	0.47004	3.723000	0.54955	2.288000	0.76882	0.298000	0.19748	GAT	.		0.642	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952	
OPRK1	4986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	54147486	54147486	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:54147486G>C	ENST00000265572.3	-	3	740	c.443C>G	c.(442-444)aCc>aGc	p.T148S	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.T59S|OPRK1_ENST00000520287.1_Missense_Mutation_p.T148S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CATGGTCAAGGTGAAGATGCT	0.483																																					p.T148S		.											.	OPRK1	70	0			c.C443G						.						140.0	113.0	122.0					8																	54147486		2203	4300	6503	SO:0001583	missense	4986	exon3			GTCAAGGTGAAGA		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.443C>G	8.37:g.54147486G>C	ENSP00000265572:p.Thr148Ser	99.0	0.0		225.0	64.0	NM_000912	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379661	0.82682	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.19532	2.14;2.14;2.14	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35847	-0.9772	10	0.12430	T	0.62	.	20.3732	0.98896	0.0:0.0:1.0:0.0	.	148	P41145	OPRK_HUMAN	S	148;59;148;134	ENSP00000265572:T148S;ENSP00000430923:T59S;ENSP00000429706:T148S	ENSP00000265572:T148S	T	-	2	0	OPRK1	54310039	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.711000	0.98735	2.809000	0.96659	0.650000	0.86243	ACC	.		0.483	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
OR10A2	341276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6891293	6891293	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr11:6891293C>T	ENST00000307322.4	+	1	370	c.308C>T	c.(307-309)gCt>gTt	p.A103V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTCCTCCTGGCTACCATGGCA	0.542																																					p.A103V		.											.	OR10A2	113	0			c.C308T						.						119.0	116.0	117.0					11																	6891293		2201	4296	6497	SO:0001583	missense	341276	exon1			TCCTGGCTACCAT	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.308C>T	11.37:g.6891293C>T	ENSP00000303862:p.Ala103Val	134.0	0.0		265.0	114.0	NM_001004460	B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.261735	0.39995	.	.	ENSG00000170790	ENST00000307322	T	0.02015	4.5	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.104975	0.42420	D	0.000708	T	0.04588	0.0125	M	0.64676	1.99	0.32945	D	0.519008	P	0.41748	0.761	B	0.41332	0.354	T	0.05683	-1.0870	10	0.87932	D	0	.	14.4844	0.67606	0.0:1.0:0.0:0.0	.	103	Q9H208	O10A2_HUMAN	V	103	ENSP00000303862:A103V	ENSP00000303862:A103V	A	+	2	0	OR10A2	6847869	0.047000	0.20315	0.988000	0.46212	0.360000	0.29518	2.781000	0.47750	2.330000	0.79161	0.650000	0.86243	GCT	.		0.542	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460	
OR13D1	286365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	107457698	107457698	+	Silent	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:107457698T>A	ENST00000318763.5	+	1	1039	c.996T>A	c.(994-996)gcT>gcA	p.A332A		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCAAAGAGGCTGTAAAGAAAG	0.403																																					p.A332A		.											.	OR13D1	70	0			c.T996A						.						70.0	72.0	72.0					9																	107457698		2203	4300	6503	SO:0001819	synonymous_variant	286365	exon1			AGAGGCTGTAAAG		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.996T>A	9.37:g.107457698T>A		122.0	0.0		131.0	36.0	NM_001004484	B9EIS1|Q6IFL1	Silent	SNP	ENST00000318763.5	37	CCDS35094.1																																																																																			.		0.403	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1		
OR2W1	26692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	29012335	29012335	+	Silent	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr6:29012335A>T	ENST00000377175.1	-	1	682	c.618T>A	c.(616-618)atT>atA	p.I206I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GTGTGAGGACAATTATAATGC	0.413																																					p.I206I		.											.	OR2W1	93	0			c.T618A						.						148.0	150.0	150.0					6																	29012335		1511	2709	4220	SO:0001819	synonymous_variant	26692	exon1			GAGGACAATTATA	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.618T>A	6.37:g.29012335A>T		226.0	0.0		257.0	77.0	NM_030903	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	CCDS4656.1																																																																																			.		0.413	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2		
OR5L1	219437	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55579471	55579471	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr11:55579471T>G	ENST00000333973.2	+	1	618	c.529T>G	c.(529-531)Ttt>Gtt	p.F177V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GATTAACCACTTTTTCTGTGA	0.443																																					p.F177V		.											.	OR5L1	73	0			c.T529G						.						241.0	220.0	227.0					11																	55579471		2200	4296	6496	SO:0001583	missense	219437	exon1			AACCACTTTTTCT	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.529T>G	11.37:g.55579471T>G	ENSP00000335529:p.Phe177Val	552.0	1.0		842.0	114.0	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	16.29	3.081928	0.55861	.	.	ENSG00000186117	ENST00000333973	T	0.00350	7.98	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.01029	0.0034	M	0.92169	3.28	0.30331	N	0.786695	D	0.67145	0.996	D	0.70016	0.967	T	0.02632	-1.1131	10	0.62326	D	0.03	-54.117	12.1089	0.53827	0.0:0.0:0.0:1.0	.	177	Q8NGL2	OR5L1_HUMAN	V	177	ENSP00000335529:F177V	ENSP00000335529:F177V	F	+	1	0	OR5L1	55336047	0.001000	0.12720	0.579000	0.28588	0.811000	0.45836	0.573000	0.23699	1.529000	0.49120	0.352000	0.21897	TTT	.		0.443	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
OTOF	9381	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	26725219	26725219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:26725219G>T	ENST00000272371.2	-	7	785	c.659C>A	c.(658-660)tCg>tAg	p.S220*	OTOF_ENST00000403946.3_Nonsense_Mutation_p.S220*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	220					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAGACACCGAGTCGGGATC	0.587																																					p.S220X	GBM(102;732 1451 20652 24062 31372)	.											.	OTOF	135	0			c.C659A						.						90.0	76.0	81.0					2																	26725219		2203	4300	6503	SO:0001587	stop_gained	9381	exon7			GACACCGAGTCGG	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.659C>A	2.37:g.26725219G>T	ENSP00000272371:p.Ser220*	37.0	1.0		188.0	22.0	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Nonsense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	37	6.118318	0.97300	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	.	.	.	5.52	4.63	0.57726	.	0.150862	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-12.9068	15.0571	0.71921	0.0:0.1427:0.8573:0.0	.	.	.	.	X	220;220;104	.	ENSP00000272371:S220X	S	-	2	0	OTOF	26578723	1.000000	0.71417	0.950000	0.38849	0.674000	0.39518	7.155000	0.77445	1.310000	0.45006	0.655000	0.94253	TCG	.		0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
PIBF1	10464	ucsc.edu;bcgsc.ca	37	13	73369662	73369662	+	Silent	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr13:73369662T>C	ENST00000326291.6	+	4	857	c.519T>C	c.(517-519)ccT>ccC	p.P173P		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	173						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGCTTTTCCTGAAGATCAGC	0.303																																					p.P173P		.											.	PIBF1	136	0			c.T519C						.						61.0	65.0	63.0					13																	73369662		2203	4300	6503	SO:0001819	synonymous_variant	10464	exon4			TTTTCCTGAAGAT	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.519T>C	13.37:g.73369662T>C		253.0	0.0		44.0	4.0	NM_006346	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	CCDS31991.1																																																																																			.		0.303	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346	
PITPNM3	83394	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	6360967	6360970	+	Frame_Shift_Del	DEL	AGGC	AGGC	-			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	AGGC	AGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr17:6360967_6360970delAGGC	ENST00000262483.8	-	19	2650_2653	c.2563_2566delGCCT	c.(2563-2568)gcctccfs	p.AS855fs	PITPNM3_ENST00000421306.3_Frame_Shift_Del_p.AS819fs|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	855					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AAGATCTGGGAGGCAGGCAGGCCC	0.613																																					p.855_856del		.											.	PITPNM3	228	0			c.2563_2566del						.																																			SO:0001589	frameshift_variant	83394	exon19			TCTGGGAGGCAGG	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2563_2566delGCCT	17.37:g.6360975_6360978delAGGC	ENSP00000262483:p.Ala855fs	52.0	0.0		55.0	41.0	NM_031220	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Frame_Shift_Del	DEL	ENST00000262483.8	37	CCDS11076.1																																																																																			.		0.613	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
PKN3	29941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	131476850	131476850	+	Silent	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:131476850G>A	ENST00000291906.4	+	12	1884	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	497	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTAATTTCCTGCCCAAGAAGA	0.592																																					p.L497L		.											.	PKN3	521	0			c.G1491A						.						69.0	70.0	70.0					9																	131476850		2203	4300	6503	SO:0001819	synonymous_variant	29941	exon12			TTTCCTGCCCAAG	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1491G>A	9.37:g.131476850G>A		89.0	0.0		275.0	111.0	NM_013355	Q9UM03	Silent	SNP	ENST00000291906.4	37	CCDS6908.1																																																																																			.		0.592	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355	
PLCG1	5335	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	39792450	39792451	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr20:39792450_39792451insT	ENST00000373271.1	+	10	1392_1393	c.987_988insT	c.(988-990)tggfs	p.W330fs	PLCG1_ENST00000373272.2_Frame_Shift_Ins_p.W330fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.W330fs	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	330	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TTTCCCACTACTGGATCTCCTC	0.559																																					p.Y329fs		.											.	PLCG1	911	0			c.987_988insT						.																																			SO:0001589	frameshift_variant	5335	exon10			CCACTACTGGATC	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.988dupT	20.37:g.39792451_39792451dupT	ENSP00000362368:p.Trp330fs	112.0	0.0		351.0	139.0	NM_182811	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Frame_Shift_Ins	INS	ENST00000373271.1	37	CCDS13314.1																																																																																			.		0.559	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
PLS1	5357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	142405170	142405170	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:142405170A>T	ENST00000337777.3	+	9	1146	c.933A>T	c.(931-933)aaA>aaT	p.K311N	PLS1_ENST00000497002.1_Missense_Mutation_p.K311N|PLS1_ENST00000457734.2_Missense_Mutation_p.K311N	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	311	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTGCCCCTAAAGGTGGGGAAG	0.343																																					p.K311N		.											.	PLS1	91	0			c.A933T						.						133.0	130.0	131.0					3																	142405170		2203	4300	6503	SO:0001583	missense	5357	exon9			CCCTAAAGGTGGG	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.933A>T	3.37:g.142405170A>T	ENSP00000336831:p.Lys311Asn	87.0	0.0		116.0	32.0	NM_001172312	A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987374	0.53934	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.36	2.96	0.34315	Calponin homology domain (5);	0.284737	0.43919	D	0.000501	D	0.89660	0.6779	L	0.55103	1.725	0.54753	D	0.999981	P	0.37997	0.614	B	0.30782	0.12	D	0.84497	0.0614	10	0.37606	T	0.19	-24.6923	7.8338	0.29358	0.8282:0.0:0.1718:0.0	.	311	Q14651	PLSI_HUMAN	N	311;232;311;311	ENSP00000387890:K311N;ENSP00000417481:K232N;ENSP00000336831:K311N;ENSP00000418700:K311N	ENSP00000336831:K311N	K	+	3	2	PLS1	143887860	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.565000	0.53798	0.464000	0.27142	0.533000	0.62120	AAA	.		0.343	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	
PNPLA8	50640	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	108155899	108155899	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:108155899G>A	ENST00000422087.1	-	4	443	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	PNPLA8_ENST00000388728.5_Missense_Mutation_p.L13F|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L13F|PNPLA8_ENST00000426128.2_Missense_Mutation_p.L13F|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.L13F|PNPLA8_ENST00000453144.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	13					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTACTAAGGAGGTAAATATAT	0.338																																					p.L13F		.											.	PNPLA8	135	0			c.C37T						.						60.0	56.0	58.0					7																	108155899		2202	4300	6502	SO:0001583	missense	50640	exon2			TAAGGAGGTAAAT	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.37C>T	7.37:g.108155899G>A	ENSP00000410804:p.Leu13Phe	87.0	0.0		82.0	43.0	NM_001256008	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057455	0.19907	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000436062;ENST00000427008;ENST00000415498	D;D;D;D;D	0.98493	-3.77;-4.96;-3.77;-4.96;-4.96	5.26	2.4	0.29515	.	0.649498	0.14456	N	0.318482	D	0.94676	0.8283	L	0.46157	1.445	0.25488	N	0.987675	B	0.11235	0.004	B	0.09377	0.004	D	0.85450	0.1160	10	0.12430	T	0.62	.	4.4129	0.11441	0.4079:0.0:0.4435:0.1486	.	13	Q9NP80	PLPL8_HUMAN	F	13	ENSP00000394988:L13F;ENSP00000257694:L13F;ENSP00000373380:L13F;ENSP00000410804:L13F;ENSP00000406779:L13F	ENSP00000257694:L13F	L	-	1	0	PNPLA8	107943135	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	0.170000	0.16663	0.565000	0.29255	0.460000	0.39030	CTC	.		0.338	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
PPP2R5D	5528	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	42978962	42978962	+	Missense_Mutation	SNP	A	A	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr6:42978962A>C	ENST00000485511.1	+	16	1926	c.1747A>C	c.(1747-1749)Aag>Cag	p.K583Q	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.K575Q|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.K477Q|KLHDC3_ENST00000326974.4_5'Flank|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.K551Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	583					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTACACCATCAAGGCACTGGA	0.577																																					p.K583Q	Melanoma(63;587 1613 29742 31770)	.											.	PPP2R5D	1082	0			c.A1747C						.						98.0	95.0	96.0					6																	42978962		2203	4300	6503	SO:0001583	missense	5528	exon16			ACCATCAAGGCAC	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1747A>C	6.37:g.42978962A>C	ENSP00000417963:p.Lys583Gln	98.0	1.0		222.0	114.0	NM_006245	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.53|14.53	2.563151|2.563151	0.45694|0.45694	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	T;T;T;T|.	0.51071|.	0.74;0.73;0.72;0.76|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68054|0.68054	0.2959|0.2959	M|M	0.74881|0.74881	2.28|2.28	0.50467|0.50467	D|D	0.99987|0.99987	B;B;B;B|.	0.23249|.	0.016;0.082;0.049;0.082|.	B;B;B;B|.	0.28139|.	0.041;0.059;0.027;0.086|.	T|T	0.69796|0.69796	-0.5048|-0.5048	10|5	0.46703|.	T|.	0.11|.	-30.3757|-30.3757	15.2607|15.2607	0.73621|0.73621	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	477;565;583;551|.	Q14738-3;F5GYS1;Q14738;Q14738-2|.	.;.;2A5D_HUMAN;.|.	Q|P	583;551;575;565;477|484	ENSP00000417963:K583Q;ENSP00000377669:K551Q;ENSP00000420550:K575Q;ENSP00000420674:K477Q|.	ENSP00000377669:K551Q|.	K|Q	+|+	1|2	0|0	PPP2R5D|PPP2R5D	43086940|43086940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.310000|7.310000	0.78947|0.78947	2.089000|2.089000	0.63090|0.63090	0.533000|0.533000	0.62120|0.62120	AAG|CAA	.		0.577	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245	
PRDM16	63976	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	3342300	3342300	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:3342300A>T	ENST00000270722.5	+	13	3144	c.3095A>T	c.(3094-3096)cAc>cTc	p.H1032L	PRDM16_ENST00000511072.1_Missense_Mutation_p.H1033L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.H1032L|PRDM16_ENST00000442529.2_Missense_Mutation_p.H1031L|PRDM16_ENST00000378391.2_Missense_Mutation_p.H1032L|PRDM16_ENST00000378398.3_Missense_Mutation_p.H1032L|PRDM16_ENST00000441472.2_Missense_Mutation_p.H1031L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1032	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AAGCACGAGCACGAGAACGCA	0.667			T	EVI1	"""MDS, AML"""																																p.H1032L		.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16	660	0			c.A3095T						.						60.0	69.0	66.0					1																	3342300		2112	4203	6315	SO:0001583	missense	63976	exon13			ACGAGCACGAGAA	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3095A>T	1.37:g.3342300A>T	ENSP00000270722:p.His1032Leu	44.0	0.0		114.0	38.0	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831560	0.50845	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	4.02	4.02	0.46733	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	U	0.000113	T	0.36690	0.0976	M	0.68317	2.08	0.54753	D	0.99998	D;D;P;P	0.55800	0.973;0.971;0.904;0.951	D;P;P;P	0.64042	0.921;0.908;0.674;0.812	T	0.19224	-1.0312	10	0.72032	D	0.01	.	12.9149	0.58200	1.0:0.0:0.0:0.0	.	1032;1032;1031;1031	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	L	1033;1032;1031;1031;1032;1032;1032;848;848;840	ENSP00000426975:H1033L;ENSP00000367651:H1032L;ENSP00000407968:H1031L;ENSP00000405253:H1031L;ENSP00000367643:H1032L;ENSP00000421400:H1032L;ENSP00000270722:H1032L;ENSP00000422504:H848L;ENSP00000425796:H840L	ENSP00000270722:H1032L	H	+	2	0	PRDM16	3332160	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.051000	0.76627	1.451000	0.47736	0.379000	0.24179	CAC	.		0.667	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
PREX2	80243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	68934295	68934295	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:68934295G>C	ENST00000288368.4	+	4	638	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	121	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TATCTATGATGAATATTGTAG	0.294																																					p.E121Q		.											.	PREX2	390	0			c.G361C						.						108.0	106.0	107.0					8																	68934295		2202	4300	6502	SO:0001583	missense	80243	exon4			TATGATGAATATT	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.361G>C	8.37:g.68934295G>C	ENSP00000288368:p.Glu121Gln	75.0	0.0		43.0	16.0	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067046	0.93898	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.64085	-0.08	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	L	0.45051	1.395	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.91635	0.999;0.981;0.979	T	0.75739	-0.3212	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	121;121;121	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Q	121	ENSP00000288368:E121Q	ENSP00000288368:E121Q	E	+	1	0	PREX2	69096849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.452000	0.97615	2.873000	0.98535	0.563000	0.77884	GAA	.		0.294	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
PRPF39	55015	ucsc.edu;bcgsc.ca	37	14	45578823	45578823	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr14:45578823A>G	ENST00000355765.6	+	8	1186	c.1016A>G	c.(1015-1017)aAa>aGa	p.K339R	SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	339					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TTTCAGATTAAAAGACCTTAC	0.284																																					p.K339R		.											.	PRPF39	70	0			c.A1016G						.						40.0	39.0	39.0					14																	45578823		2201	4296	6497	SO:0001583	missense	55015	exon8			AGATTAAAAGACC	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1016A>G	14.37:g.45578823A>G	ENSP00000348010:p.Lys339Arg	172.0	1.0		38.0	4.0	NM_017922	Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	A	16.37	3.105302	0.56291	.	.	ENSG00000185246	ENST00000355765;ENST00000355846	T	0.33865	1.39	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	L	0.40543	1.245	0.80722	D	1	B;D	0.71674	0.415;0.998	B;D	0.63488	0.274;0.915	T	0.31752	-0.9932	10	0.30078	T	0.28	-7.6039	14.5457	0.68030	1.0:0.0:0.0:0.0	.	339;218	Q86UA1;F5H1P0	PRP39_HUMAN;.	R	339;218	ENSP00000348010:K339R	ENSP00000348010:K339R	K	+	2	0	PRPF39	44648573	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.114000	0.94329	2.124000	0.65301	0.383000	0.25322	AAA	.		0.284	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2		
RANBP17	64901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	170610173	170610173	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:170610173A>G	ENST00000523189.1	+	17	2032	c.1868A>G	c.(1867-1869)tAt>tGt	p.Y623C	RANBP17_ENST00000521759.1_Intron	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	623					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTATTACTTATATCCTTTTA	0.269			T	TRD@	ALL																																p.Y623C		.		Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	RANBP17	524	0			c.A1868G						.						27.0	31.0	30.0					5																	170610173		2190	4280	6470	SO:0001583	missense	64901	exon17			TTACTTATATCCT	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1868A>G	5.37:g.170610173A>G	ENSP00000427975:p.Tyr623Cys	288.0	0.0		56.0	44.0	NM_022897	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267783	0.59540	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-type fold (1);	1.051830	0.07457	N	0.899966	T	0.78666	0.4319	M	0.74546	2.27	0.45295	D	0.998296	D	0.63046	0.992	P	0.54401	0.751	T	0.70324	-0.4903	10	0.41790	T	0.15	-13.0125	14.103	0.65070	1.0:0.0:0.0:0.0	.	623	Q9H2T7	RBP17_HUMAN	C	623;53	ENSP00000427975:Y623C	ENSP00000427975:Y623C	Y	+	2	0	RANBP17	170542778	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.839000	0.86812	2.194000	0.70268	0.533000	0.62120	TAT	.		0.269	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
RCC1	1104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	28863318	28863318	+	Missense_Mutation	SNP	G	G	A	rs547058163		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:28863318G>A	ENST00000373833.6	+	12	1282	c.997G>A	c.(997-999)Gag>Aag	p.E333K	RCC1_ENST00000398958.2_Missense_Mutation_p.E333K|RCC1_ENST00000373832.1_Missense_Mutation_p.E333K|RCC1_ENST00000373831.3_Missense_Mutation_p.E364K			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	333					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGGTGCTGAGGAGAAGAG	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18363	0.0		0.0	False		,,,				2504	0.0				p.E364K		.											.	RCC1	228	0			c.G1090A						.						126.0	121.0	123.0					1																	28863318		2203	4300	6503	SO:0001583	missense	1104	exon10			GGTGCTGAGGAGA	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.997G>A	1.37:g.28863318G>A	ENSP00000362939:p.Glu333Lys	97.0	0.0		264.0	149.0	NM_001048194	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271718	0.59649	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.045916	0.85682	D	0.000000	T	0.79913	0.4528	L	0.35288	1.05	0.58432	D	0.999994	B;P;P	0.42871	0.007;0.792;0.592	B;P;B	0.50314	0.005;0.637;0.392	T	0.73965	-0.3816	10	0.15066	T	0.55	-27.0717	18.6252	0.91334	0.0:0.0:1.0:0.0	.	364;350;333	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	K	333;333;333;364;350	ENSP00000381931:E333K;ENSP00000362939:E333K;ENSP00000362938:E333K;ENSP00000362937:E364K;ENSP00000413644:E350K	ENSP00000362937:E364K	E	+	1	0	RCC1	28735905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.620000	0.67736	2.741000	0.93983	0.655000	0.94253	GAG	.		0.607	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	
RBM8A	9939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	145508934	145508934	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:145508934T>C	ENST00000330165.8	+	5	430	c.361T>C	c.(361-363)Tat>Cat	p.Y121H	RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|GNRHR2_ENST00000312753.5_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.Y120H|RP11-315I20.1_ENST00000596355.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	121	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTAGTTGAATATGAAACATA	0.453																																					p.Y121H		.											.	RBM8A	90	0			c.T361C						.						71.0	73.0	72.0					1																	145508934		2203	4300	6503	SO:0001583	missense	9939	exon5			GTTGAATATGAAA	AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.361T>C	1.37:g.145508934T>C	ENSP00000333001:p.Tyr121His	215.0	0.0		483.0	184.0	NM_005105	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	37	CCDS916.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091281	0.76756	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.78924	-1.22;-1.22	4.17	4.17	0.49024	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.89986	0.6874	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91837	0.5480	10	0.87932	D	0	-15.6879	9.5232	0.39149	0.0:0.0:0.0:1.0	.	120;121	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	H	121;120	ENSP00000333001:Y121H;ENSP00000358313:Y120H	ENSP00000333001:Y121H	Y	+	1	0	RBM8A	144220291	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.909000	0.75735	1.755000	0.51935	0.459000	0.35465	TAT	.		0.453	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105	
RTF1	23168	broad.mit.edu;bcgsc.ca	37	15	41767797	41767797	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr15:41767797A>G	ENST00000389629.4	+	10	1373	c.1361A>G	c.(1360-1362)aAg>aGg	p.K454R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	454	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAGTTTATGAAGTGGAAAGAA	0.423																																					p.K454R		.											.	RTF1	92	0			c.A1361G						.						113.0	101.0	105.0					15																	41767797		2203	4300	6503	SO:0001583	missense	23168	exon10			TTATGAAGTGGAA	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1361A>G	15.37:g.41767797A>G	ENSP00000374280:p.Lys454Arg	154.0	0.0		147.0	7.0	NM_015138	Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062212	0.76187	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.97	5.97	0.96955	Plus-3 domain, subgroup (1);Plus-3 (2);	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	N	0.20357	0.565	0.80722	D	1	P	0.45078	0.85	D	0.69654	0.965	T	0.53180	-0.8475	9	0.06236	T	0.91	-23.3198	16.4608	0.84044	1.0:0.0:0.0:0.0	.	454	Q92541	RTF1_HUMAN	R	454	.	ENSP00000374280:K454R	K	+	2	0	RTF1	39555089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.310000	0.96267	2.288000	0.76882	0.533000	0.62120	AAG	.		0.423	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138	
RUSC1	23623	ucsc.edu;mdanderson.org	37	1	155291138	155291138	+	Intron	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:155291138A>G	ENST00000368352.5	+	2	65				RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Intron|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTCCTCTGGGAGTAAGGGGTA	0.647																																					p.S48P		.											.	.	.	0			c.T142C						.						18.0	19.0	18.0					1																	155291138		1856	4089	5945	SO:0001627	intron_variant	284618	exon2			TCTGGGAGTAAGG	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-86-341A>G	1.37:g.155291138A>G		206.0	0.0		642.0	100.0	NM_001039517	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																			.		0.647	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1		
SBSN	374897	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	36019030	36019030	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:36019030C>A	ENST00000452271.2	-	1	182	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	SBSN_ENST00000518157.1_Missense_Mutation_p.D52Y	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	52	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTGATGCCATCCAGGGCCTTG	0.567																																					p.D52Y		.											.	SBSN	91	0			c.G154T						.						197.0	169.0	179.0					19																	36019030		2203	4300	6503	SO:0001583	missense	374897	exon1			TGCCATCCAGGGC	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.154G>T	19.37:g.36019030C>A	ENSP00000430242:p.Asp52Tyr	172.0	1.0		375.0	209.0	NM_001166034	A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291395	0.59976	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.53206	0.76;0.63	4.71	4.71	0.59529	.	0.402247	0.20878	N	0.084053	T	0.55242	0.1908	L	0.34521	1.04	0.27539	N	0.950856	D;D	0.65815	0.995;0.984	P;D	0.64506	0.807;0.926	T	0.51490	-0.8699	10	0.72032	D	0.01	.	13.1495	0.59482	0.0:1.0:0.0:0.0	.	52;52	Q6UWP8;E9PBV3	SBSN_HUMAN;.	Y	52	ENSP00000430242:D52Y;ENSP00000428771:D52Y	ENSP00000430242:D52Y	D	-	1	0	SBSN	40710870	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.545000	0.53648	2.131000	0.65755	0.555000	0.69702	GAT	.		0.567	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538	
SCN8A	6334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	52056826	52056826	+	Silent	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:52056826C>T	ENST00000354534.6	+	2	403	c.225C>T	c.(223-225)ggC>ggT	p.G75G	SCN8A_ENST00000545061.1_Silent_p.G75G|SCN8A_ENST00000550891.1_Silent_p.G75G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	75					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCCCCCAAGGCCTGGTTGCAG	0.552																																					p.G75G		.											.	SCN8A	29	0			c.C225T						.						126.0	128.0	127.0					12																	52056826		2005	4158	6163	SO:0001819	synonymous_variant	6334	exon2			CCAAGGCCTGGTT	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.225C>T	12.37:g.52056826C>T		151.0	0.0		254.0	123.0	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	CCDS44891.1																																																																																			.		0.552	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
SGSM1	129049	ucsc.edu;bcgsc.ca	37	22	25294176	25294176	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr22:25294176G>A	ENST00000400359.4	+	20	2432	c.2425G>A	c.(2425-2427)Ggc>Agc	p.G809S	SGSM1_ENST00000400358.4_Missense_Mutation_p.G754S|SNORD56_ENST00000362913.1_RNA	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	809	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACCTAGGGATGGCAGCGTGGA	0.647																																					p.G809S		.											.	SGSM1	27	0			c.G2425A						.						42.0	53.0	49.0					22																	25294176		2182	4287	6469	SO:0001583	missense	129049	exon20			AGGGATGGCAGCG	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2425G>A	22.37:g.25294176G>A	ENSP00000383212:p.Gly809Ser	41.0	0.0		40.0	4.0	NM_001039948	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	0.073	-1.199020	0.01581	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.05855	3.38;3.39	5.24	-2.89	0.05665	Rab-GAP/TBC domain (2);	0.667200	0.14272	N	0.330087	T	0.02455	0.0075	N	0.16368	0.405	0.26164	N	0.979951	B;B;B;B	0.19445	0.0;0.036;0.006;0.0	B;B;B;B	0.12156	0.001;0.003;0.007;0.0	T	0.46091	-0.9216	10	0.02654	T	1	-15.9724	4.8998	0.13769	0.313:0.1104:0.4683:0.1083	.	754;809;826;809	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	S	809;754;809	ENSP00000383211:G754S;ENSP00000383212:G809S	ENSP00000383211:G754S	G	+	1	0	SGSM1	23624176	0.536000	0.26378	0.995000	0.50966	0.050000	0.14768	0.158000	0.16422	-0.215000	0.10063	-0.218000	0.12543	GGC	.		0.647	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
SH3TC2	79628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	5	148411195	148411195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr5:148411195C>A	ENST00000515425.1	-	9	1158	c.1057G>T	c.(1057-1059)Gga>Tga	p.G353*	SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.G346*|SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.G238*|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	353					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCACTTCCCAGGGCCAAC	0.527																																					p.G353X		.											.	SH3TC2	92	0			c.G1057T						.						160.0	128.0	139.0					5																	148411195		2203	4300	6503	SO:0001587	stop_gained	79628	exon9			CACTTCCCAGGGC	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1057G>T	5.37:g.148411195C>A	ENSP00000423660:p.Gly353*	103.0	0.0		153.0	131.0	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Nonsense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865918	0.91511	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	.	.	.	5.53	4.66	0.58398	.	0.208186	0.44097	D	0.000488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	9.565	0.39394	0.1737:0.7505:0.0:0.0758	.	.	.	.	X	353;346;238	.	ENSP00000377886:G238X	G	-	1	0	SH3TC2	148391388	0.677000	0.27577	0.719000	0.30619	0.397000	0.30659	1.260000	0.32968	1.468000	0.48064	0.563000	0.77884	GGA	.		0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
SHFM1	7979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	96324155	96324155	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:96324155T>G	ENST00000248566.2	-	2	252	c.125A>C	c.(124-126)aAt>aCt	p.N42T	SHFM1_ENST00000444799.1_Missense_Mutation_p.N42T|SHFM1_ENST00000413065.1_Missense_Mutation_p.N42T|SHFM1_ENST00000417009.1_Missense_Mutation_p.N42T	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	42	Asp/Glu-rich (highly acidic).				double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)		p.N42S(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					ATCATCCCAATTATCCTCCCA	0.343								Homologous recombination																													p.N42T		.											.	SHFM1	227	1	Substitution - Missense(1)	prostate(1)	c.A125C						.						181.0	177.0	178.0					7																	96324155		2203	4300	6503	SO:0001583	missense	7979	exon2			TCCCAATTATCCT	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.125A>C	7.37:g.96324155T>G	ENSP00000248566:p.Asn42Thr	143.0	0.0		147.0	17.0	NM_006304	Q13437|Q61067	Missense_Mutation	SNP	ENST00000248566.2	37	CCDS5646.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370713	0.61624	.	.	ENSG00000127922	ENST00000417009;ENST00000444799;ENST00000413065;ENST00000248566	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	.	.	.	0.80722	D	1	D;P	0.76494	0.999;0.807	D;P	0.81914	0.995;0.728	T	0.72574	-0.4252	9	0.56958	D	0.05	.	15.1597	0.72775	0.0:0.0:0.0:1.0	.	42;42	F2Z309;P60896	.;DSS1_HUMAN	T	42	ENSP00000416322:N42T;ENSP00000390049:N42T;ENSP00000409481:N42T;ENSP00000248566:N42T	ENSP00000248566:N42T	N	-	2	0	SHFM1	96162091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.202000	0.70862	0.528000	0.53228	AAT	.		0.343	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304	
SLC22A14	9389	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	38347844	38347844	+	Silent	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:38347844C>T	ENST00000273173.4	+	1	418	c.327C>T	c.(325-327)caC>caT	p.H109H	SLC22A14_ENST00000448498.1_Silent_p.H109H|RNU6-235P_ENST00000362644.1_RNA	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	109					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGGGCCCCCACCTGTCCAAAG	0.532																																					p.H109H		.											.	SLC22A14	90	0			c.C327T						.						108.0	100.0	103.0					3																	38347844		2203	4300	6503	SO:0001819	synonymous_variant	9389	exon1			CCCCCACCTGTCC	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.327C>T	3.37:g.38347844C>T		115.0	0.0		273.0	20.0	NM_004803	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	CCDS2677.1																																																																																			.		0.532	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803	
SLC7A13	157724	ucsc.edu;bcgsc.ca	37	8	87226761	87226761	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:87226761C>T	ENST00000297524.3	-	4	1397	c.1294G>A	c.(1294-1296)Gga>Aga	p.G432R	CTD-3118D11.3_ENST00000523112.1_RNA|SLC7A13_ENST00000419776.2_3'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	432						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AATAGTAATCCGCTGAGAACT	0.353																																					p.G432R		.											.	SLC7A13	90	0			c.G1294A						.						67.0	69.0	68.0					8																	87226761		2203	4300	6503	SO:0001583	missense	157724	exon4			GTAATCCGCTGAG	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1294G>A	8.37:g.87226761C>T	ENSP00000297524:p.Gly432Arg	59.0	0.0		34.0	4.0	NM_138817	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076233	0.36662	.	.	ENSG00000164893	ENST00000297524	D	0.92048	-2.96	4.3	4.3	0.51218	.	0.310653	0.26708	N	0.022901	D	0.95959	0.8684	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95795	0.8828	10	0.87932	D	0	.	8.8023	0.34916	0.0:0.8933:0.0:0.1067	.	432	Q8TCU3	S7A13_HUMAN	R	432	ENSP00000297524:G432R	ENSP00000297524:G432R	G	-	1	0	SLC7A13	87295877	0.063000	0.20901	0.991000	0.47740	0.024000	0.10985	0.974000	0.29436	2.321000	0.78463	0.655000	0.94253	GGA	.		0.353	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	
SRGAP3	9901	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	9055115	9055115	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:9055115C>T	ENST00000383836.3	-	17	2451	c.2024G>A	c.(2023-2025)tGc>tAc	p.C675Y	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000433332.3_5'Flank|SRGAP3_ENST00000360413.3_Missense_Mutation_p.C651Y	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	675					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GTGTGCCTGGCAGGACACAGG	0.537			T	RAF1	pilocytic astrocytoma																																p.C675Y		.		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	SRGAP3	344	0			c.G2024A						.						115.0	96.0	102.0					3																	9055115		2203	4300	6503	SO:0001583	missense	9901	exon17			GCCTGGCAGGACA	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2024G>A	3.37:g.9055115C>T	ENSP00000373347:p.Cys675Tyr	318.0	0.0		279.0	98.0	NM_014850	Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305689	0.60305	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.40756	1.02;2.02	5.7	5.7	0.88788	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	N	0.16368	0.405	0.80722	D	1	B;B	0.21753	0.06;0.032	B;B	0.34931	0.192;0.016	T	0.10405	-1.0631	10	0.02654	T	1	.	19.4422	0.94825	0.0:1.0:0.0:0.0	.	651;675	O43295-2;O43295	.;SRGP2_HUMAN	Y	675;651	ENSP00000373347:C675Y;ENSP00000353587:C651Y	ENSP00000353587:C651Y	C	-	2	0	SRGAP3	9030115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.875000	0.69660	2.688000	0.91661	0.655000	0.94253	TGC	.		0.537	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		
SRM	6723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	11119332	11119332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:11119332G>A	ENST00000376957.2	-	2	318	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	80	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	ATCATCTCCTGGTAGGAGAAC	0.637																																					p.Q80X		.											.	SRM	90	0			c.C238T						.						116.0	101.0	106.0					1																	11119332		2203	4300	6503	SO:0001587	stop_gained	6723	exon2			TCTCCTGGTAGGA	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.238C>T	1.37:g.11119332G>A	ENSP00000366156:p.Gln80*	98.0	0.0		337.0	95.0	NM_003132	B1AKP9|Q15511	Nonsense_Mutation	SNP	ENST00000376957.2	37	CCDS125.1	.	.	.	.	.	.	.	.	.	.	G	37	6.242829	0.97408	.	.	ENSG00000116649	ENST00000376957	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.289	0.66265	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000366156:Q80X	Q	-	1	0	SRM	11041919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.865000	0.92300	2.191000	0.70037	0.448000	0.29417	CAG	.		0.637	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132	
TACC1	6867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	8	38678084	38678084	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:38678084G>C	ENST00000317827.4	+	3	1701	c.1322G>C	c.(1321-1323)tGt>tCt	p.C441S	TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.C396S|TACC1_ENST00000379931.3_Missense_Mutation_p.C441S|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_Missense_Mutation_p.C246S|TACC1_ENST00000520340.1_Missense_Mutation_p.C405S|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000520615.1_Missense_Mutation_p.C246S|TACC1_ENST00000520973.1_Missense_Mutation_p.C246S|TACC1_ENST00000443286.2_Missense_Mutation_p.C457S|TACC1_ENST00000330691.6_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	441	SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AGTGACTTTTGTTCTCCCACT	0.468																																					p.C441S		.											.	TACC1	187	0			c.G1322C						.						158.0	171.0	167.0					8																	38678084		2203	4300	6503	SO:0001583	missense	6867	exon3			ACTTTTGTTCTCC	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1322G>C	8.37:g.38678084G>C	ENSP00000321703:p.Cys441Ser	16.0	0.0		60.0	10.0	NM_006283	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.022|9.022	0.985143|0.985143	0.18889|0.18889	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973|ENST00000521866;ENST00000518809	T;T;T;T;T;T;T;T|.	0.09538|.	3.01;3.01;3.15;3.15;2.97;3.17;3.15;3.0|.	5.5|5.5	3.53|3.53	0.40419|0.40419	.|.	0.473755|.	0.24750|.	N|.	0.035919|.	T|T	0.54143|0.54143	0.1840|0.1840	L|L	0.53249|0.53249	1.67|1.67	0.33831|0.33831	D|D	0.630281|0.630281	P;B;B;B;P;B;B;B|.	0.43352|.	0.804;0.007;0.007;0.281;0.546;0.026;0.012;0.034|.	B;B;B;B;B;B;B;B|.	0.39840|.	0.311;0.005;0.005;0.081;0.221;0.014;0.01;0.031|.	T|T	0.61720|0.61720	-0.7005|-0.7005	10|5	0.09338|.	T|.	0.73|.	8.3026|8.3026	9.9902|9.9902	0.41865|0.41865	0.1706:0.0:0.8294:0.0|0.1706:0.0:0.8294:0.0	.|.	246;246;246;457;441;441;246;396|.	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7|.	.;.;.;.;.;TACC1_HUMAN;.;.|.	S|L	246;246;246;457;396;413;441;441;246|216;79	ENSP00000428687:C246S;ENSP00000428450:C246S;ENSP00000393647:C457S;ENSP00000428706:C396S;ENSP00000430355:C413S;ENSP00000321703:C441S;ENSP00000369263:C441S;ENSP00000430959:C246S|.	ENSP00000321703:C441S|.	C|V	+|+	2|1	0|0	TACC1|TACC1	38797241|38797241	0.989000|0.989000	0.36119|0.36119	0.957000|0.957000	0.39632|0.39632	0.939000|0.939000	0.58152|0.58152	2.094000|2.094000	0.41719|0.41719	0.564000|0.564000	0.29238|0.29238	0.655000|0.655000	0.94253|0.94253	TGT|GTT	.		0.468	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283	
THSD7A	221981	ucsc.edu;bcgsc.ca	37	7	11416259	11416259	+	Silent	SNP	G	G	A	rs527635213	byFrequency	TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr7:11416259G>A	ENST00000423059.4	-	27	5078	c.4827C>T	c.(4825-4827)taC>taT	p.Y1609Y	AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1609					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGCTACACCGTAAACCCAGG	0.348										HNSCC(18;0.044)			G|||	2	0.000399361	0.0	0.0029	5008	,	,		18495	0.0		0.0	False		,,,				2504	0.0				p.Y1609Y		.											.	THSD7A	71	0			c.C4827T						.						59.0	62.0	61.0					7																	11416259		1859	4100	5959	SO:0001819	synonymous_variant	221981	exon26			TACACCGTAAACC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4827C>T	7.37:g.11416259G>A		72.0	0.0		40.0	4.0	NM_015204		Silent	SNP	ENST00000423059.4	37	CCDS47543.1																																																																																			.		0.348	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
TLR1	7096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	38799406	38799406	+	Silent	SNP	C	C	A	rs375416156		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:38799406C>A	ENST00000502213.2	-	3	1276	c.1047G>T	c.(1045-1047)ccG>ccT	p.P349P	TLR1_ENST00000308979.2_Silent_p.P349P			Q15399	TLR1_HUMAN	toll-like receptor 1	349					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AATGCAGGAACGGGCTAATTT	0.363																																					p.P349P	GBM(5;216 373 40795 46382)	.											.	TLR1	524	0			c.G1047T						.						57.0	59.0	58.0					4																	38799406		2203	4300	6503	SO:0001819	synonymous_variant	7096	exon4			CAGGAACGGGCTA	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1047G>T	4.37:g.38799406C>A		84.0	0.0		79.0	16.0	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	CCDS33973.1																																																																																			.		0.363	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3		
TLR7	51284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	12904609	12904609	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chrX:12904609A>G	ENST00000380659.3	+	3	1121	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	328					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTTCTTGGCCAAAGAAATTGG	0.418																																					p.K328E		.											.	TLR7	564	0			c.A982G						.						72.0	71.0	72.0					X																	12904609		2203	4299	6502	SO:0001583	missense	51284	exon3			TTGGCCAAAGAAA	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.982A>G	X.37:g.12904609A>G	ENSP00000370034:p.Lys328Glu	86.0	0.0		95.0	82.0	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511550	0.44660	.	.	ENSG00000196664	ENST00000380659	T	0.02395	4.31	5.65	5.65	0.86999	.	0.186695	0.46145	D	0.000308	T	0.03959	0.0111	L	0.46157	1.445	0.34566	D	0.712874	B	0.16396	0.017	B	0.19946	0.027	T	0.17715	-1.0360	10	0.44086	T	0.13	.	10.1847	0.42991	0.8494:0.0:0.0:0.1506	.	328	Q9NYK1	TLR7_HUMAN	E	328	ENSP00000370034:K328E	ENSP00000370034:K328E	K	+	1	0	TLR7	12814530	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.094000	0.71431	1.891000	0.54761	0.486000	0.48141	AAA	.		0.418	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
TMEM132C	92293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	128899692	128899692	+	Silent	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr12:128899692G>A	ENST00000435159.2	+	2	501	c.501G>A	c.(499-501)ctG>ctA	p.L167L		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	167						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GGGAGAAGCTGCCATGCCTGA	0.622																																					p.L167L		.											.	TMEM132C	68	0			c.G501A						.						15.0	19.0	18.0					12																	128899692		692	1591	2283	SO:0001819	synonymous_variant	92293	exon2			GAAGCTGCCATGC	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.501G>A	12.37:g.128899692G>A		60.0	0.0		156.0	26.0	NM_001136103	Q69YX8	Silent	SNP	ENST00000435159.2	37																																																																																				.		0.622	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062	
TMEM82	388595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	16073479	16073479	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr1:16073479T>A	ENST00000375782.1	+	5	1013	c.875T>A	c.(874-876)cTt>cAt	p.L292H	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	292	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGCATCCTTGTCTCCCTA	0.672																																					p.L292H		.											.	TMEM82	90	0			c.T875A						.						99.0	87.0	91.0					1																	16073479		2203	4300	6503	SO:0001583	missense	388595	exon5			GCATCCTTGTCTC		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.875T>A	1.37:g.16073479T>A	ENSP00000364938:p.Leu292His	159.0	0.0		400.0	114.0	NM_001013641	B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608396	0.46527	.	.	ENSG00000162460	ENST00000375782	T	0.54279	0.58	4.8	3.67	0.42095	.	0.709482	0.13524	N	0.381498	T	0.58892	0.2154	L	0.38175	1.15	0.21627	N	0.999612	D	0.71674	0.998	D	0.63192	0.912	T	0.48559	-0.9025	10	0.72032	D	0.01	-4.3264	9.972	0.41761	0.0:0.0812:0.0:0.9188	.	292	A0PJX8	TMM82_HUMAN	H	292	ENSP00000364938:L292H	ENSP00000364938:L292H	L	+	2	0	TMEM82	15946066	0.439000	0.25610	0.002000	0.10522	0.114000	0.19823	4.145000	0.58065	0.862000	0.35528	0.379000	0.24179	CTT	.		0.672	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641	
TMPRSS11F	389208	ucsc.edu;bcgsc.ca	37	4	68935724	68935724	+	Splice_Site	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:68935724A>G	ENST00000356291.2	-	6	575	c.516T>C	c.(514-516)ccT>ccC	p.P172P	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	172	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGCTGTCAATAGCTGGAATAA	0.308																																					p.P172P		.											.	TMPRSS11F	91	0			c.T516C						.						144.0	148.0	147.0					4																	68935724		2202	4298	6500	SO:0001630	splice_region_variant	389208	exon6			GTCAATAGCTGGA	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.515-1T>C	4.37:g.68935724A>G		158.0	0.0		34.0	4.0	NM_207407	A8MXX2	Silent	SNP	ENST00000356291.2	37	CCDS3520.1																																																																																			.		0.308	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	Silent
TRMT61B	55006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	29092901	29092901	+	Silent	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:29092901A>G	ENST00000306108.5	-	1	266	c.243T>C	c.(241-243)tgT>tgC	p.C81C		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	81					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTGACGAAAGACATCCAGTCC	0.602																																					p.C81C		.											.	TRMT61B	90	0			c.T243C						.						87.0	87.0	87.0					2																	29092901		2203	4300	6503	SO:0001819	synonymous_variant	55006	exon1			CGAAAGACATCCA	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.243T>C	2.37:g.29092901A>G		86.0	0.0		311.0	152.0	NM_017910	Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	37	CCDS1768.1																																																																																			.		0.602	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910	
CENPT	80152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	67859123	67859123	+	IGR	SNP	C	C	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr16:67859123C>A	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.D254E|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.D200E|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.D185E	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCATCGCAGACCTGAATGAGC	0.542																																					p.D200E		.											.	TSNAXIP1	90	0			c.C600A						.						100.0	104.0	103.0					16																	67859123		2077	4215	6292	SO:0001628	intergenic_variant	55815	exon7			CGCAGACCTGAAT	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67859123C>A		68.0	0.0		165.0	69.0	NM_018430	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789254	0.49997	.	.	ENSG00000102904	ENST00000415766;ENST00000388833	T;T	0.00940	5.52;5.52	6.07	2.75	0.32379	.	0.271819	0.32736	N	0.005713	T	0.02119	0.0066	L	0.55834	1.745	0.30239	N	0.795175	D;B;B	0.65815	0.995;0.197;0.197	P;B;B	0.58873	0.847;0.062;0.062	T	0.31641	-0.9936	10	0.59425	D	0.04	-20.5441	3.1841	0.06594	0.367:0.4221:0.0:0.2109	.	185;254;200	E7ENJ7;B4DXD0;Q2TAA8	.;.;TXIP1_HUMAN	E	185;200	ENSP00000411472:D185E;ENSP00000373485:D200E	ENSP00000373485:D200E	D	+	3	2	TSNAXIP1	66416624	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	0.649000	0.24843	0.888000	0.36160	0.655000	0.94253	GAC	.		0.542	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082	
UBXN7	26043	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	196134222	196134222	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:196134222delT	ENST00000296328.4	-	2	190	c.116delA	c.(115-117)aacfs	p.N41fs	UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	41						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CAGATTATTGTTGCACGCTTC	0.403																																					p.N39fs		.											.	UBXN7	71	0			c.116delA						.						190.0	175.0	180.0					3																	196134222		1903	4118	6021	SO:0001589	frameshift_variant	26043	exon2			TTATTGTTGCACG	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.116delA	3.37:g.196134222delT	ENSP00000296328:p.Asn41fs	201.0	0.0		284.0	93.0	NM_015562	D3DXB3|Q6ZP77|Q86X20|Q8N327	Frame_Shift_Del	DEL	ENST00000296328.4	37	CCDS43191.1																																																																																			.		0.403	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353	
USP40	55230	ucsc.edu;bcgsc.ca	37	2	234450954	234450954	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr2:234450954A>G	ENST00000427112.2	-	8	1057	c.1022T>C	c.(1021-1023)aTt>aCt	p.I341T	USP40_ENST00000251722.6_Missense_Mutation_p.I341T|USP40_ENST00000450966.1_Missense_Mutation_p.I353T			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	341	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TGGATGATCAATCTCTTCTTC	0.348																																					p.I353T		.											.	USP40	455	0			c.T1058C						.						115.0	105.0	108.0					2																	234450954		1850	4106	5956	SO:0001583	missense	55230	exon8			TGATCAATCTCTT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1022T>C	2.37:g.234450954A>G	ENSP00000387898:p.Ile341Thr	84.0	0.0		37.0	4.0	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	A	4.024	0.001889	0.07819	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.04758	3.56;3.56;3.56	4.86	0.588	0.17445	.	6.345940	0.00810	N	0.001488	T	0.01870	0.0059	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40308	-0.9570	10	0.05959	T	0.93	.	5.1016	0.14762	0.4204:0.0:0.4281:0.1515	.	353	Q9NVE5-3	.	T	353;341;341	ENSP00000415434:I353T;ENSP00000251722:I341T;ENSP00000387898:I341T	ENSP00000251722:I341T	I	-	2	0	USP40	234115693	0.008000	0.16893	0.013000	0.15412	0.932000	0.56968	-0.223000	0.09177	0.006000	0.14734	0.460000	0.39030	ATT	.		0.348	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
VWA3A	146177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	22126725	22126725	+	Silent	SNP	G	G	A	rs368919567	byFrequency	TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr16:22126725G>A	ENST00000389398.5	+	9	843	c.747G>A	c.(745-747)ctG>ctA	p.L249L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	249						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCAGCAACCTGCTACAAGCTC	0.493													G|||	5	0.000998403	0.0	0.0	5008	,	,		17217	0.0		0.0	False		,,,				2504	0.0051				p.L249L		.											.	VWA3A	1	0			c.G747A						.						38.0	40.0	40.0					16																	22126725		1936	4132	6068	SO:0001819	synonymous_variant	146177	exon9			CAACCTGCTACAA	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.747G>A	16.37:g.22126725G>A		98.0	0.0		173.0	79.0	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	ENST00000389398.5	37	CCDS45441.1																																																																																			.		0.493	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
WDR49	151790	ucsc.edu;bcgsc.ca	37	3	167223203	167223203	+	Splice_Site	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:167223203C>T	ENST00000308378.3	-	13	2025	c.1720G>A	c.(1720-1722)Gtc>Atc	p.V574I	WDR49_ENST00000453925.2_Splice_Site_p.V539I|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Splice_Site_p.V399I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	574										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GATGGTCTGACACTGGAAGAA	0.289																																					p.V574I		.											.	WDR49	155	0			c.G1720A						.						26.0	29.0	28.0					3																	167223203		2171	4253	6424	SO:0001630	splice_region_variant	151790	exon13			GTCTGACACTGGA	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1719-1G>A	3.37:g.167223203C>T		122.0	0.0		23.0	4.0	NM_178824	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.448|2.448	-0.327118|-0.327118	0.05350|0.05350	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925	.|T;T;T	.|0.51574	.|0.7;2.0;1.13	5.0|5.0	-1.68|-1.68	0.08212|0.08212	.|.	.|1.814210	.|0.02434	.|N	.|0.083918	T|T	0.35566|0.35566	0.0936|0.0936	L|L	0.41236|0.41236	1.265|1.265	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.07328|0.07328	-1.0778|-1.0778	5|10	.|0.22109	.|T	.|0.4	.|.	4.3777|4.3777	0.11279|0.11279	0.0:0.2838:0.3175:0.3987|0.0:0.2838:0.3175:0.3987	.|.	.|539;574	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	I|I	550|574;399;539	.|ENSP00000311343:V574I;ENSP00000420508:V399I;ENSP00000410863:V539I	.|ENSP00000311343:V574I	M|V	-|-	3|1	0|0	WDR49|WDR49	168705897|168705897	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.935000|0.935000	0.57460|0.57460	-1.054000|-1.054000	0.03496|0.03496	-0.038000|-0.038000	0.13624|0.13624	0.655000|0.655000	0.94253|0.94253	ATG|GTC	.		0.289	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	Missense_Mutation
WDR87	83889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38378936	38378936	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:38378936T>A	ENST00000303868.5	-	6	5482	c.5258A>T	c.(5257-5259)gAg>gTg	p.E1753V	WDR87_ENST00000447313.2_Missense_Mutation_p.E1792V	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1753	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CAATGCCTCCTCTTCCTCAGC	0.488																																					p.E1753V		.											.	.	.	0			c.A5258T						.						130.0	105.0	113.0					19																	38378936		692	1591	2283	SO:0001583	missense	83889	exon6			GCCTCCTCTTCCT	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.5258A>T	19.37:g.38378936T>A	ENSP00000368025:p.Glu1753Val	329.0	0.0		359.0	121.0	NM_031951	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	t	12.16	1.854922	0.32791	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.22743	1.94;1.94	5.09	1.56	0.23342	.	.	.	.	.	T	0.12944	0.0314	L	0.29908	0.895	0.09310	N	1	P;P	0.43857	0.819;0.819	B;B	0.39876	0.312;0.312	T	0.14980	-1.0453	9	0.48119	T	0.1	.	3.1689	0.06545	0.2983:0.1747:0.0:0.527	.	1753;1792	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	V	1792;1753	ENSP00000405012:E1792V;ENSP00000368025:E1753V	ENSP00000368025:E1753V	E	-	2	0	WDR87	43070776	0.000000	0.05858	0.042000	0.18584	0.044000	0.14063	-0.070000	0.11523	0.347000	0.23924	0.439000	0.28862	GAG	.		0.488	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
WHSC1	7468	ucsc.edu;bcgsc.ca;mdanderson.org	37	4	1957858	1957858	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:1957858G>T	ENST00000382895.3	+	17	3255	c.2824G>T	c.(2824-2826)Ggg>Tgg	p.G942W	WHSC1_ENST00000508803.1_Missense_Mutation_p.G942W|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.G942W|WHSC1_ENST00000382888.3_Missense_Mutation_p.G290W|WHSC1_ENST00000382891.5_Missense_Mutation_p.G942W	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	942	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTACATGGAGGGGGACCGGGG	0.512			T	IGH@	MM																																p.G942W		.		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	WHSC1	664	0			c.G2824T						.						79.0	98.0	91.0					4																	1957858		2203	4300	6503	SO:0001583	missense	7468	exon15			ATGGAGGGGGACC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2824G>T	4.37:g.1957858G>T	ENSP00000372351:p.Gly942Trp	105.0	0.0		217.0	104.0	NM_133335	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.517268|4.517268	0.85495|0.85495	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000514329|ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	.|T;T;T;T;T	.|0.33438	.|1.41;1.41;1.41;1.41;1.41	5.76|5.76	4.92|4.92	0.64577|0.64577	.|PWWP (2);	0.101187|0.101187	0.43919|0.43919	D|D	0.000517|0.000517	T|T	0.60104|0.60104	0.2243|0.2243	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.995;0.999	T|T	0.67803|0.67803	-0.5576|-0.5576	6|10	.|0.87932	.|D	.|0	.|.	14.6702|14.6702	0.68937|0.68937	0.0696:0.0:0.9304:0.0|0.0696:0.0:0.9304:0.0	.|.	.|290;942	.|A2A2T2;O96028	.|.;NSD2_HUMAN	V|W	265|942;942;942;942;290	.|ENSP00000423972:G942W;ENSP00000372347:G942W;ENSP00000372348:G942W;ENSP00000372351:G942W;ENSP00000372344:G290W	.|ENSP00000372344:G290W	G|G	+|+	2|1	0|0	WHSC1|WHSC1	1927656|1927656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.661000|9.661000	0.98601|0.98601	1.432000|1.432000	0.47375|0.47375	0.655000|0.655000	0.94253|0.94253	GGG|GGG	.		0.512	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
YIPF7	285525	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	44631480	44631480	+	Silent	SNP	A	A	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr4:44631480A>G	ENST00000332990.5	-	4	454	c.438T>C	c.(436-438)aaT>aaC	p.N146N	YIPF7_ENST00000415895.4_Silent_p.N122N	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	146						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GGTCCGTTTCATTCATAATGC	0.423																																					p.N146N		.											.	.	.	0			c.T438C						.						83.0	90.0	88.0					4																	44631480		1904	4115	6019	SO:0001819	synonymous_variant	285525	exon4			CGTTTCATTCATA	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.438T>C	4.37:g.44631480A>G		158.0	0.0		104.0	58.0	NM_182592	Q3SY21|Q3SY22	Silent	SNP	ENST00000332990.5	37	CCDS54766.1	.	.	.	.	.	.	.	.	.	.	A	7.318	0.616431	0.14129	.	.	ENSG00000177752	ENST00000415895	.	.	.	5.31	0.122	0.14702	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.4527	5.1453	0.14981	0.5627:0.0:0.3108:0.1265	.	.	.	.	R	123	.	.	X	-	1	0	YIPF7	44326237	0.869000	0.29996	0.998000	0.56505	0.826000	0.46750	0.083000	0.14871	-0.097000	0.12307	-0.425000	0.05940	TGA	.		0.423	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592	
ZFP36	7538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	39898413	39898413	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:39898413G>T	ENST00000248673.3	+	2	113	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	ZFP36_ENST00000597629.1_Missense_Mutation_p.V25L|ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	19					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGACGTGCCCGTGCCATCCGA	0.672																																					p.V25L	NSCLC(67;1164 1324 12056 21056 30097)	.											.	ZFP36	227	0			c.G73T						.						95.0	106.0	102.0					19																	39898413		2202	4298	6500	SO:0001583	missense	7538	exon2			GTGCCCGTGCCAT	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.55G>T	19.37:g.39898413G>T	ENSP00000248673:p.Val19Leu	24.0	0.0		72.0	18.0	NM_003407	B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37		.	.	.	.	.	.	.	.	.	.	G	0.765	-0.767704	0.02974	.	.	ENSG00000128016	ENST00000248673	T	0.17370	2.28	3.88	-3.28	0.05033	.	6.637530	0.02098	U	0.053685	T	0.07188	0.0182	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22487	-1.0215	10	0.15066	T	0.55	.	2.8173	0.05459	0.2725:0.3503:0.2862:0.091	.	19	P26651	TTP_HUMAN	L	19	ENSP00000248673:V19L	ENSP00000248673:V19L	V	+	1	0	ZFP36	44590253	0.004000	0.15560	0.009000	0.14445	0.012000	0.07955	1.431000	0.34925	-0.273000	0.09246	-0.362000	0.07510	GTG	.		0.672	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
ZFP92	139735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152685756	152685756	+	Silent	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chrX:152685756C>T	ENST00000338647.5	+	3	232	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						TAGCAGACATCCCCAGAACCT	0.557																																					p.I77I		.											.	ZFP92	62	0			c.C231T						.						82.0	65.0	70.0					X																	152685756		692	1591	2283	SO:0001819	synonymous_variant	139735	exon3			AGACATCCCCAGA	U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.231C>T	X.37:g.152685756C>T		65.0	0.0		307.0	291.0	NM_001136273		Silent	SNP	ENST00000338647.5	37	CCDS59177.1																																																																																			.		0.557	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332220.2		
ZFYVE26	23503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	68238928	68238928	+	Splice_Site	SNP	C	C	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr14:68238928C>T	ENST00000347230.4	-	28	5459		c.e28-1		ZFYVE26_ENST00000555452.1_Splice_Site	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26						cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGGAGATACCTGGGAGGCAG	0.473																																					.		.											.	ZFYVE26	162	0			c.5321-1G>A						.						24.0	25.0	25.0					14																	68238928		2203	4299	6502	SO:0001630	splice_region_variant	23503	exon29			AGATACCTGGGAG	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5321-1G>A	14.37:g.68238928C>T		148.0	0.0		90.0	71.0	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Splice_Site	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042641	0.75732	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1626	0.86807	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFYVE26	67308681	1.000000	0.71417	0.996000	0.52242	0.842000	0.47809	3.813000	0.55636	2.838000	0.97847	0.655000	0.94253	.	.		0.473	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	Intron
ZIK1	284307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58101688	58101688	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:58101688G>T	ENST00000597850.1	+	4	724	c.509G>T	c.(508-510)tGg>tTg	p.W170L	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.W115L|ZIK1_ENST00000536878.2_Missense_Mutation_p.W157L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTCGCAAATGGGAGGTTGGA	0.502																																					p.W170L		.											.	ZIK1	91	0			c.G509T						.						74.0	69.0	71.0					19																	58101688		2203	4300	6503	SO:0001583	missense	284307	exon4			GCAAATGGGAGGT	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.509G>T	19.37:g.58101688G>T	ENSP00000472867:p.Trp170Leu	83.0	0.0		147.0	48.0	NM_001010879	O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	2.446	-0.327465	0.05350	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.04654	3.58	2.97	-5.94	0.02247	.	.	.	.	.	T	0.01254	0.0041	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44982	-0.9292	9	0.27785	T	0.31	.	1.8751	0.03217	0.4707:0.136:0.2556:0.1377	.	157;170	F5H435;Q3SY52	.;ZIK1_HUMAN	L	157;151;170	ENSP00000438487:W157L	ENSP00000303820:W170L	W	+	2	0	ZIK1	62793500	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-0.344000	0.07780	-1.595000	0.01613	-1.626000	0.00786	TGG	.		0.502	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879	
ZMAT4	79698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	40683185	40683185	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr8:40683185G>A	ENST00000297737.6	-	2	157	c.11C>T	c.(10-12)tCc>tTc	p.S4F	ZMAT4_ENST00000315769.7_Missense_Mutation_p.S4F|ZMAT4_ENST00000523823.1_5'UTR	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	4						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATCAATATCGGAGGACTTCAT	0.443																																					p.S4F		.											.	ZMAT4	92	0			c.C11T						.						44.0	37.0	39.0					8																	40683185		2186	4262	6448	SO:0001583	missense	79698	exon2			ATATCGGAGGACT	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.11C>T	8.37:g.40683185G>A	ENSP00000297737:p.Ser4Phe	35.0	0.0		87.0	37.0	NM_024645	Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428304	0.43122	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.46819	0.86;0.87;0.87	5.37	5.37	0.77165	.	0.174304	0.50627	D	0.000101	T	0.48169	0.1485	N	0.08118	0	0.46376	D	0.999019	P;P	0.48694	0.914;0.855	D;B	0.63703	0.917;0.36	T	0.57142	-0.7862	10	0.72032	D	0.01	-16.5024	14.9923	0.71399	0.0:0.0:1.0:0.0	.	4;4	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	F	4	ENSP00000319785:S4F;ENSP00000297737:S4F;ENSP00000428423:S4F	ENSP00000297737:S4F	S	-	2	0	ZMAT4	40802342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.339000	0.72969	2.692000	0.91855	0.591000	0.81541	TCC	.		0.443	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645	
ZNF462	58499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	109687219	109687219	+	Silent	SNP	T	T	G			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr9:109687219T>G	ENST00000277225.5	+	3	1315	c.1026T>G	c.(1024-1026)tcT>tcG	p.S342S	ZNF462_ENST00000457913.1_Silent_p.S342S|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	342					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CGCCCATGTCTTACCCTCAGA	0.488																																					p.S342S		.											.	ZNF462	95	0			c.T1026G						.						75.0	70.0	71.0					9																	109687219		2203	4300	6503	SO:0001819	synonymous_variant	58499	exon3			CATGTCTTACCCT	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1026T>G	9.37:g.109687219T>G		54.0	0.0		197.0	35.0	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																			.		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ZNF565	147929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	19	36673862	36673862	+	Nonsense_Mutation	SNP	C	C	A	rs373289614	byFrequency	TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr19:36673862C>A	ENST00000355114.5	-	5	1852	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	ZNF565_ENST00000392173.2_Nonsense_Mutation_p.E336*|ZNF565_ENST00000304116.5_Nonsense_Mutation_p.E336*			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCCTTACACTCGTAGGGTTTC	0.478																																					p.E336X		.											.	ZNF565	92	0			c.G1006T						.						74.0	66.0	69.0					19																	36673862		2203	4300	6503	SO:0001587	stop_gained	147929	exon5			TACACTCGTAGGG	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1126G>T	19.37:g.36673862C>A	ENSP00000347234:p.Glu376*	94.0	0.0		163.0	49.0	NM_001042474	B3KQ35|Q6NUS2	Nonsense_Mutation	SNP	ENST00000355114.5	37		.	.	.	.	.	.	.	.	.	.	c	12.69	2.013646	0.35511	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	.	.	.	4.7	2.51	0.30379	.	0.000000	0.37623	N	0.002020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	3.5117	0.07710	0.1745:0.5636:0.1691:0.0927	.	.	.	.	X	336;336;376	.	ENSP00000306869:E336X	E	-	1	0	ZNF565	41365702	0.000000	0.05858	0.997000	0.53966	0.013000	0.08279	-2.003000	0.01463	0.679000	0.31345	-0.142000	0.14014	GAG	.		0.478	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477	
ZNF668	79759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31072640	31072640	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr16:31072640A>T	ENST00000538906.1	-	3	2393	c.1609T>A	c.(1609-1611)Tca>Aca	p.S537T	ZNF668_ENST00000300849.4_Missense_Mutation_p.S537T|ZNF668_ENST00000539836.3_Missense_Mutation_p.S560T|ZNF668_ENST00000394983.2_Missense_Mutation_p.S537T|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000535577.1_Missense_Mutation_p.S537T|ZNF668_ENST00000426488.2_Missense_Mutation_p.S560T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCCGGGTGTGAGCGCTCGTGC	0.667																																					p.S560T	Colon(181;1111 1980 5060 10512 25785)	.											.	ZNF668	585	0			c.T1678A						.						39.0	39.0	39.0					16																	31072640		2197	4300	6497	SO:0001583	missense	79759	exon4			GGTGTGAGCGCTC		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1609T>A	16.37:g.31072640A>T	ENSP00000440149:p.Ser537Thr	51.0	0.0		147.0	28.0	NM_001172669	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100316	0.37048	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.04	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.340229	0.27275	N	0.020117	T	0.08492	0.0211	N	0.10760	0.04	0.28473	N	0.915336	B	0.17268	0.021	B	0.18561	0.022	T	0.19745	-1.0296	10	0.33940	T	0.23	-14.3349	8.5754	0.33595	0.6922:0.0:0.0:0.3078	.	537	Q96K58	ZN668_HUMAN	T	560;537;537;537;537	ENSP00000442573:S560T;ENSP00000441349:S537T;ENSP00000440149:S537T;ENSP00000378434:S537T;ENSP00000300849:S537T	ENSP00000300849:S537T	S	-	1	0	ZNF668	30980141	0.056000	0.20664	1.000000	0.80357	0.970000	0.65996	0.209000	0.17435	0.905000	0.36596	0.459000	0.35465	TCA	.		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706	
ADRA1D	146	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	4202228	4202229	+	Missense_Mutation	DNP	GC	GC	TT	rs371559421		TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr20:4202228_4202229GC>TT	ENST00000379453.4	-	2	1776_1777	c.1660_1661GC>AA	c.(1660-1662)GCc>AAc	p.A554N		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	554				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTGGCAGGTGGCGCCCTCGGCC	0.688																																					p.A554N		.											.	.	.	0			.						.																																			SO:0001583	missense	146	.			CAGGTGGCGCCCT	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1660_1661delinsTT	20.37:g.4202228_4202229delinsTT	ENSP00000368766:p.Ala554Asn	62.0	0.0		236.0	102.0	.	Q9NPY0	Missense_Mutation	DNP	ENST00000379453.4	37	CCDS13079.1																																																																																			.		0.688	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678	
ZNF831	128611	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	57766858	57766858	+	Silent	SNP	A	A	C			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr20:57766858A>C	ENST00000371030.2	+	1	784	c.784A>C	c.(784-786)Agg>Cgg	p.R262R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	262							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTGGATGTGAGGACCGAAGC	0.667																																					p.R262R		.											.	ZNF831	126	0			c.A784C						.						50.0	58.0	55.0					20																	57766858		2004	4171	6175	SO:0001819	synonymous_variant	128611	exon1			GATGTGAGGACCG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.784A>C	20.37:g.57766858A>C		34.0	0.0		125.0	17.0	NM_178457	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																			.		0.667	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
DENND6A	201627	hgsc.bcm.edu;broad.mit.edu	37	3	57678508	57678509	+	Splice_Site	DNP	CC	CC	AA			TCGA-CC-5264-01A-01D-A12Z-10	TCGA-CC-5264-10A-01D-A12Z-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	7ebf24cf-16a5-4dd3-b594-062b8d626dc3	b864a5b7-de17-4b12-b93e-4246ea56a3d6	g.chr3:57678508_57678509CC>AA	ENST00000311128.5	-	1	307_308	c.237_238GG>TT	c.(235-240)gaGGta>gaTTta	p.79_80EV>DL	RP11-755B10.3_ENST00000465933.1_lincRNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	79					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CCGGGCCTCACCTCCACGGCCT	0.752																																					.		.											.	.	.	0			.						.																																			SO:0001630	splice_region_variant	201627	.			GCCTCACCTCCAC	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.237_238delinsAA	3.37:g.57678508_57678509delinsAA		16.0	0.0		48.0	29.0	.	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	DNP	ENST00000311128.5	37	CCDS33773.1																																																																																			.		0.752	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	Missense_Mutation
