#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CYP4A11	1579	broad.mit.edu	37	1	47402416	47402416	+	Missense_Mutation	SNP	G	G	A	rs202214253		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:47402416G>A	ENST00000310638.4	-	4	461	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	CYP4A11_ENST00000462347.1_Missense_Mutation_p.R144W|CYP4A11_ENST00000457840.2_Missense_Mutation_p.R40W|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.R144W|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R144W	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	144					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GTCAGCATCCGTCGATGCTGG	0.527																																						uc001cqp.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(430-432)Cgg>Tgg		Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	NADH(DB00157)						110.0	84.0	93.0					1																	47402416		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47402416G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.430C>T	1.37:g.47402416G>A	ENSP00000311095:p.Arg144Trp					CYP4A11_uc001cqq.2_Missense_Mutation_p.R144W|CYP4A11_uc010omm.1_Non-coding_Transcript	p.R144W	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			3	481	-			144					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.430C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	16.05	3.013084	0.54468	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	T;T;T;D	0.81996	-0.65;-0.65;-0.65;-1.56	5.32	0.695	0.18070	.	0.069104	0.56097	D	0.000036	D	0.86871	0.6037	M	0.87038	2.855	0.25948	N	0.982782	B	0.33413	0.411	B	0.42030	0.373	D	0.83359	0.0001	10	0.87932	D	0	.	14.9738	0.71254	0.0:0.0:0.491:0.509	.	144	Q02928	CP4AB_HUMAN	W	144;144;144;40	ENSP00000311095:R144W;ENSP00000360971:R144W;ENSP00000360972:R144W;ENSP00000406272:R40W	ENSP00000311095:R144W	R	-	1	2	CYP4A11	47175003	0.000000	0.05858	0.351000	0.25721	0.740000	0.42216	0.176000	0.16782	0.578000	0.29487	0.644000	0.83932	CGG		0.527	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
DOCK7	85440	broad.mit.edu	37	1	63001286	63001286	+	Silent	SNP	C	C	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:63001286C>A	ENST00000340370.5	-	28	3413	c.3396G>T	c.(3394-3396)acG>acT	p.T1132T	DOCK7_ENST00000251157.5_Silent_p.T1163T	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1163					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTGTACATTCGTAGAAAATC	0.398																																						uc001daq.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(3487-3489)acG>acT		Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.							91.0	82.0	85.0					1																	63001286		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63001286C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3396G>T	1.37:g.63001286C>A						DOCK7_uc001dan.3_Silent_p.T1024T|DOCK7_uc001dao.3_Silent_p.T1024T|DOCK7_uc001dap.3_Silent_p.T1132T|DOCK7_uc001dam.3_Silent_p.T343T|DOCK7_uc010oov.1_5'UTR	p.T1163T	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			28	3523	-			1163					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.3489G>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	7.696	0.691994	0.15039	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.05	-3.41	0.04839	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7086	0.45969	0.0:0.1343:0.583:0.2826	.	.	.	.	X	335	.	.	E	-	1	0	DOCK7	62773874	0.216000	0.23585	0.886000	0.34754	0.926000	0.56050	-0.517000	0.06275	-0.848000	0.04163	-1.246000	0.01523	GAA		0.398	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
VTCN1	79679	broad.mit.edu	37	1	117699373	117699373	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:117699373G>A	ENST00000369458.3	-	3	346	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	VTCN1_ENST00000359008.4_Silent_p.L93L|VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGCTCCGACAGCTCATCTTTG	0.458																																						uc001ehb.3																			0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(268-270)Ctg>Ttg		Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.							126.0	113.0	118.0					1																	117699373		2203	4300	6503	SO:0001819	synonymous_variant	79679					integral to membrane|plasma membrane		g.chr1:117699373G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.268C>T	1.37:g.117699373G>A						VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron	p.L90L	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	2	373	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	90			Ig-like V-type 1.			Silent	SNP	ENST00000369458.3	37	c.268C>T	CCDS894.1																																																																																				0.458	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626	
TXNIP	10628	broad.mit.edu	37	1	145440100	145440100	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:145440100G>A	ENST00000369317.4	+	4	868	c.534G>A	c.(532-534)gtG>gtA	p.V178V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	178					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGGGCGGGTGTCTGTCTCTG	0.433																																						uc001enn.4																			0		p.R177L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(532-534)gtG>gtA		Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.							161.0	178.0	172.0					1																	145440100		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440100G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.534G>A	1.37:g.145440100G>A						TXNIP_uc010oys.2_Silent_p.V123V	p.V178V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			3	875	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		178					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.534G>A	CCDS913.1																																																																																				0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472	
NR1I3	9970	broad.mit.edu	37	1	161203002	161203002	+	Missense_Mutation	SNP	G	G	A	rs372603248		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:161203002G>A	ENST00000367982.4	-	4	520	c.365C>T	c.(364-366)aCc>aTc	p.T122I	NR1I3_ENST00000367981.3_Missense_Mutation_p.T93I|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.T122I|NR1I3_ENST00000505005.1_Missense_Mutation_p.T122I|NR1I3_ENST00000508740.1_Missense_Mutation_p.T93I|NR1I3_ENST00000412844.2_Missense_Mutation_p.T93I|NR1I3_ENST00000515452.1_Missense_Mutation_p.T122I|NR1I3_ENST00000512372.1_Missense_Mutation_p.T93I|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000428574.2_Missense_Mutation_p.T122I|NR1I3_ENST00000506209.1_Missense_Mutation_p.T93I|NR1I3_ENST00000504010.1_Missense_Mutation_p.T93I|NR1I3_ENST00000442691.2_Missense_Mutation_p.T122I|NR1I3_ENST00000437437.2_Missense_Mutation_p.T93I|NR1I3_ENST00000367980.2_Missense_Mutation_p.T122I|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367985.3_Missense_Mutation_p.T122I|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367983.4_Missense_Mutation_p.T122I|NR1I3_ENST00000515621.1_Missense_Mutation_p.T47I|NR1I3_ENST00000511676.1_Missense_Mutation_p.T93I|NR1I3_ENST00000367984.4_Missense_Mutation_p.T122I|NR1I3_ENST00000511944.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	122					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATGTGGCGGGTGTGGGCCCC	0.557																																						uc001fzx.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(364-366)aCc>aTc		Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.							129.0	134.0	132.0					1																	161203002		2203	4300	6503	SO:0001583	missense	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161203002G>A	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.365C>T	1.37:g.161203002G>A	ENSP00000356961:p.Thr122Ile					TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.T122I|NR1I3_uc001fzm.3_Missense_Mutation_p.T47I|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Missense_Mutation_p.T122I|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Missense_Mutation_p.T122I|NR1I3_uc001fzw.3_Missense_Mutation_p.T122I|NR1I3_uc001fzz.3_Missense_Mutation_p.T122I|NR1I3_uc001fzh.3_Missense_Mutation_p.T93I|NR1I3_uc001gab.3_Missense_Mutation_p.T122I|NR1I3_uc001gac.3_Missense_Mutation_p.T93I|NR1I3_uc001fzp.3_Missense_Mutation_p.T122I|NR1I3_uc001fzg.3_Missense_Mutation_p.T93I|NR1I3_uc001gaa.3_Missense_Mutation_p.T122I|NR1I3_uc001fzj.3_Missense_Mutation_p.T93I|NR1I3_uc001fzi.3_Missense_Mutation_p.T93I|NR1I3_uc001fzl.3_Missense_Mutation_p.T93I|NR1I3_uc001fzk.3_Missense_Mutation_p.T93I|NR1I3_uc010pkm.2_Missense_Mutation_p.T93I|NR1I3_uc010pkn.1_Missense_Mutation_p.T122I	p.T122I	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	568	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		122					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.365C>T	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752747	0.15778	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	6.03	4.17	0.49024	Nuclear hormone receptor, ligand-binding (2);	0.615526	0.17923	N	0.157429	D	0.88005	0.6321	M	0.62723	1.935	0.36120	D	0.845428	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.22146	0.0;0.001;0.019;0.001;0.007;0.0;0.0;0.0;0.005;0.0;0.001;0.002;0.065;0.0;0.002;0.001;0.009;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17098	0.001;0.001;0.007;0.001;0.017;0.001;0.001;0.001;0.005;0.001;0.001;0.004;0.017;0.001;0.002;0.002;0.007;0.005	D	0.83678	0.0170	9	0.54805	T	0.06	.	9.4848	0.38922	0.0742:0.0:0.7824:0.1434	.	122;93;93;122;122;122;122;122;122;122;47;93;93;93;93;93;93;122	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	I	93;122;122;93;122;93;122;122;93;122;93;93;93;47;122;122;122;93;122	ENSP00000425417:T93I;ENSP00000356962:T122I;ENSP00000356959:T122I;ENSP00000407446:T93I;ENSP00000406493:T122I;ENSP00000399361:T93I;ENSP00000412672:T122I;ENSP00000424934:T122I;ENSP00000423666:T93I;ENSP00000356961:T122I;ENSP00000424345:T93I;ENSP00000427175:T93I;ENSP00000356960:T93I;ENSP00000421588:T47I;ENSP00000356963:T122I;ENSP00000356965:T122I;ENSP00000356958:T122I;ENSP00000423089:T93I;ENSP00000427034:T122I	ENSP00000356958:T122I	T	-	2	0	NR1I3	159469626	0.001000	0.12720	0.020000	0.16555	0.352000	0.29268	0.610000	0.24253	0.878000	0.35920	-0.136000	0.14681	ACC		0.557	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		
KAT6B	23522	broad.mit.edu	37	10	76735758	76735758	+	Missense_Mutation	SNP	G	G	A	rs146395020	byFrequency	TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:76735758G>A	ENST00000287239.4	+	8	2152	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R	KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	555	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TACCACTCAGGGACAGTCTCG	0.493													G|||	22	0.00439297	0.0	0.0	5008	,	,		19031	0.0		0.0	False		,,,				2504	0.0225					uc001jwn.1																			0											c.(1663-1665)Gga>Aga		Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.		G	ARG/GLY	0,4406		0,0,2203	112.0	98.0	103.0		1663	6.1	1.0	10	dbSNP_134	103	12,8588	9.1+/-34.3	0,12,4288	yes	missense	KAT6B	NM_012330.2	125	0,12,6491	AA,AG,GG		0.1395,0.0,0.0923	possibly-damaging	555/2074	76735758	12,12994	2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735758G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1663G>A	10.37:g.76735758G>A	ENSP00000287239:p.Gly555Arg					KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron	p.G555R	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			7	2156	+			555			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1663G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778763	0.31502	0.0	0.001395	ENSG00000156650	ENST00000287239	T	0.61040	0.14	6.08	6.08	0.98989	.	0.000000	0.45867	D	0.000324	T	0.57519	0.2059	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.54856	0.762	T	0.52726	-0.8537	9	.	.	.	-10.3105	18.8453	0.92203	0.0:0.0:1.0:0.0	.	555	Q8WYB5	KAT6B_HUMAN	R	555	ENSP00000287239:G555R	.	G	+	1	0	KAT6B	76405764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.060000	0.93907	2.890000	0.99128	0.655000	0.94253	GGA		0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
CYP2C18	1562	broad.mit.edu	37	10	96443660	96443660	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96443660G>A	ENST00000285979.6	+	1	283	c.84G>A	c.(82-84)agG>agA	p.R28R	CYP2C18_ENST00000339022.5_Silent_p.R28R	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	28					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GAAGAGGGAGGCTCCCGTCTG	0.483																																						uc001kjv.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(82-84)agG>agA		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						108.0	94.0	99.0					10																	96443660		2203	4300	6503	SO:0001819	synonymous_variant	1562				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96443660G>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.84G>A	10.37:g.96443660G>A						CYP2C19_uc001kjw.4_Silent_p.R28R	p.R28R	NM_000772	NP_000763	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	0	410	+		Colorectal(252;0.09)	28					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	37	c.84G>A	CCDS7435.1																																																																																				0.483	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	
CYP2C19	1557	broad.mit.edu	37	10	96612523	96612523	+	Missense_Mutation	SNP	G	G	A	rs138112316		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96612523G>A	ENST00000371321.3	+	9	1407	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	442			R -> C (in allele CYP2C19*16; lowered catalytic activity; dbSNP:rs192154563). {ECO:0000269|PubMed:15499191}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R442H(2)|p.R442L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GGCCTGGCCCGCATGGAGCTG	0.433																																						uc010qnz.2																			3	Substitution - Missense(3)	p.R442H(4)|p.R442L(2)	lung(1)|large_intestine(1)|prostate(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(1324-1326)cGc>cAc		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						136.0	127.0	130.0					10																	96612523		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96612523G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1325G>A	10.37:g.96612523G>A	ENSP00000360372:p.Arg442His					CYP2C19_uc010qny.2_Missense_Mutation_p.R420H	p.R442H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	8	1325	+		Colorectal(252;0.09)	442		R -> C (in allele CYP2C19*16; lowered catalytic activity).			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.1325G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194038	0.78902	.	.	ENSG00000165841	ENST00000371321	T	0.70516	-0.49	3.19	3.19	0.36642	.	0.000000	0.64402	U	0.000003	T	0.74298	0.3698	M	0.89414	3.03	0.34964	D	0.752479	P	0.44946	0.846	B	0.41036	0.346	D	0.85401	0.1131	10	0.72032	D	0.01	.	12.2643	0.54668	0.0:0.0:1.0:0.0	.	442	P33261	CP2CJ_HUMAN	H	442	ENSP00000360372:R442H	ENSP00000360372:R442H	R	+	2	0	CYP2C19	96602513	0.985000	0.35326	0.998000	0.56505	0.918000	0.54935	5.208000	0.65203	1.492000	0.48499	0.597000	0.82753	CGC		0.433	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769	
BTBD16	118663	broad.mit.edu	37	10	124066797	124066797	+	Nonsense_Mutation	SNP	T	T	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:124066797T>A	ENST00000260723.4	+	10	1136	c.885T>A	c.(883-885)taT>taA	p.Y295*	BTBD16_ENST00000368994.2_Nonsense_Mutation_p.Y296*	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	295										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTCCGACTTATGAAACCGTGA	0.353																																						uc001lgc.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(883-885)taT>taA		Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.							116.0	117.0	116.0					10																	124066797		2203	4300	6503	SO:0001587	stop_gained	118663							g.chr10:124066797T>A	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.885T>A	10.37:g.124066797T>A	ENSP00000260723:p.Tyr295*					BTBD16_uc001lgd.1_Nonsense_Mutation_p.Y294*	p.Y295*	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN			9	1136	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	295					A6NM63|Q4VXL1|Q96LN0	Nonsense_Mutation	SNP	ENST00000260723.4	37	c.885T>A	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	T	32	5.123467	0.94429	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	.	.	.	5.29	-3.26	0.05064	.	1.048650	0.07485	N	0.904684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0E-4	5.4438	0.16523	0.0:0.3305:0.2704:0.399	.	.	.	.	X	295;296	.	ENSP00000260723:Y295X	Y	+	3	2	BTBD16	124056787	0.071000	0.21146	0.000000	0.03702	0.021000	0.10359	-0.741000	0.04855	-0.946000	0.03677	0.533000	0.62120	TAT		0.353	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587	
OR4C46	119749	broad.mit.edu	37	11	51515606	51515606	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr11:51515606G>A	ENST00000328188.1	+	1	325	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CGGAGGTGCAGAGGGCATCCT	0.473																																						uc010ric.2																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(325-327)Gag>Aag		Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.							151.0	144.0	146.0					11																	51515606		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515606G>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.325G>A	11.37:g.51515606G>A	ENSP00000329056:p.Glu109Lys						p.E109K	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			0	325	+			109						Missense_Mutation	SNP	ENST00000328188.1	37	c.325G>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.648004	0.29336	.	.	ENSG00000185926	ENST00000328188	T	0.40225	1.04	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000273	T	0.64516	0.2605	H	0.95114	3.625	0.09310	N	0.999995	D	0.54601	0.967	P	0.53224	0.721	T	0.63278	-0.6673	10	0.87932	D	0	.	11.1303	0.48343	0.0:0.0:1.0:0.0	.	109	A6NHA9	O4C46_HUMAN	K	109	ENSP00000329056:E109K	ENSP00000329056:E109K	E	+	1	0	OR4C46	51372182	0.979000	0.34478	0.131000	0.22000	0.006000	0.05464	3.490000	0.53245	1.513000	0.48852	0.134000	0.15878	GAG		0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703	
CPSF6	11052	broad.mit.edu	37	12	69652697	69652697	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:69652697C>T	ENST00000435070.2	+	6	1132	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	CPSF6_ENST00000266679.8_Missense_Mutation_p.P378L|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.P268L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	341	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GCTCCTCCTCCGCATCTTCCT	0.617																																						uc001sut.4																			0		p.P341P(1)		endometrium(1)|large_intestine(7)|lung(8)	16						c.(1021-1023)cCg>cTg		Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.							127.0	122.0	124.0					12																	69652697		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69652697C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1022C>T	12.37:g.69652697C>T	ENSP00000391774:p.Pro341Leu					CPSF6_uc001suu.4_Missense_Mutation_p.P378L|CPSF6_uc010stk.2_5'UTR	p.P341L	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		5	1132	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		341			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.1022C>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595079	0.46318	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	5.0	5.0	0.66597	.	0.048775	0.85682	D	0.000000	T	0.72471	0.3464	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.69331	-0.5173	8	.	.	.	-3.2705	18.8581	0.92262	0.0:1.0:0.0:0.0	.	378;341	Q16630-2;Q16630	.;CPSF6_HUMAN	L	341;268;378	.	.	P	+	2	0	CPSF6	67938964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.688000	0.68227	2.770000	0.95276	0.563000	0.77884	CCG		0.617	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007	
SLC6A15	55117	broad.mit.edu	37	12	85255645	85255645	+	Silent	SNP	T	T	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:85255645T>A	ENST00000266682.5	-	12	2500	c.1959A>T	c.(1957-1959)gcA>gcT	p.A653A	SLC6A15_ENST00000552192.1_Silent_p.A546A|SLC6A15_ENST00000309283.7_Splice_Site_p.H315L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	653					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGGTCACAGATGCTAAATTAC	0.438																																						uc001szv.3																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1957-1959)gcA>gcT		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.							126.0	128.0	127.0					12																	85255645		2203	4300	6503	SO:0001819	synonymous_variant	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255645T>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1959A>T	12.37:g.85255645T>A						SLC6A15_uc010sul.2_Silent_p.A546A	p.A653A	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN			11	2452	-			653					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Silent	SNP	ENST00000266682.5	37	c.1959A>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	T	9.253	1.041269	0.19669	.	.	ENSG00000072041	ENST00000309283	T	0.76578	-1.03	5.99	-0.783	0.10958	.	.	.	.	.	T	0.65217	0.2670	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53236	-0.8467	8	0.87932	D	0	.	5.2307	0.15420	0.1046:0.0608:0.3777:0.457	.	315	F8WJN6	.	L	315	ENSP00000311645:H315L	ENSP00000311645:H315L	H	-	2	0	SLC6A15	83779776	0.970000	0.33590	0.989000	0.46669	0.977000	0.68977	-0.009000	0.12765	-0.362000	0.08113	-0.313000	0.08912	CAT		0.438	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
ARL1	400	broad.mit.edu	37	12	101794864	101794864	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:101794864T>A	ENST00000261636.8	-	4	486	c.312A>T	c.(310-312)aaA>aaT	p.K104N	ARL1_ENST00000536227.1_Missense_Mutation_p.K87N|ARL1_ENST00000539055.1_Missense_Mutation_p.K58N|ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551671.1_Missense_Mutation_p.K104N|ARL1_ENST00000551828.1_Missense_Mutation_p.K87N	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	104					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CTAACTCTGATTTGGAAATGC	0.348																																						uc001tib.3																			0				central_nervous_system(1)|upper_aerodigestive_tract(1)	2						c.(310-312)aaA>aaT		Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.							130.0	120.0	123.0					12																	101794864		1877	4103	5980	SO:0001583	missense	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101794864T>A	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.312A>T	12.37:g.101794864T>A	ENSP00000261636:p.Lys104Asn					ARL1_uc010svn.2_Missense_Mutation_p.K58N|ARL1_uc010svo.2_Non-coding_Transcript	p.K104N	NM_001177	NP_001168	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	3	461	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	104					B4DWW1|P80417|Q53XB1	Missense_Mutation	SNP	ENST00000261636.8	37	c.312A>T	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.060186	0.76074	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551828;ENST00000551671	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.46	2.82	0.32997	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.93197	3.39	0.80722	D	1	P;P;P	0.45428	0.809;0.858;0.809	B;B;B	0.42916	0.402;0.368;0.402	T	0.76326	-0.3000	10	0.87932	D	0	-25.155	7.5258	0.27653	0.0:0.4237:0.0:0.5763	.	58;104;104	B4DZG7;F8VYN9;P40616	.;.;ARL1_HUMAN	N	104;58;87;87;104	ENSP00000261636:K104N;ENSP00000439590:K58N;ENSP00000441808:K87N;ENSP00000448850:K87N;ENSP00000448912:K104N	ENSP00000261636:K104N	K	-	3	2	ARL1	100318995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.113000	0.31184	0.933000	0.37291	0.482000	0.46254	AAA		0.348	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177	
CDX2	1045	broad.mit.edu	37	13	28537311	28537311	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr13:28537311A>G	ENST00000381020.7	-	3	3015	c.883T>C	c.(883-885)Tct>Cct	p.S295P	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	295					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CCAGGGACAGAGCCAGGCACT	0.657			T	ETV6	AML																																	uc001urv.3				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(883-885)Tct>Cct		Homo sapiens caudal type homeobox 2 (CDX2), mRNA.							55.0	55.0	55.0					13																	28537311		2203	4300	6503	SO:0001583	missense	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28537311A>G	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.883T>C	13.37:g.28537311A>G	ENSP00000370408:p.Ser295Pro						p.S295P	NM_001265	NP_001256	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	2	1057	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	295					O00503|Q5VTU7|Q969L8|Q9UD92	Missense_Mutation	SNP	ENST00000381020.7	37	c.883T>C	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256344	0.39896	.	.	ENSG00000165556	ENST00000381020	D	0.90069	-2.61	5.08	-0.23	0.13090	.	0.283274	0.25581	N	0.029698	T	0.74045	0.3665	N	0.14661	0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.60806	-0.7190	10	0.40728	T	0.16	-4.3215	4.5333	0.12015	0.581:0.1597:0.2593:0.0	.	295	Q99626	CDX2_HUMAN	P	295	ENSP00000370408:S295P	ENSP00000370408:S295P	S	-	1	0	CDX2	27435311	0.004000	0.15560	0.946000	0.38457	0.940000	0.58332	0.276000	0.18716	-0.026000	0.13895	0.533000	0.62120	TCT		0.657	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5		
TEP1	7011	broad.mit.edu	37	14	20841727	20841727	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:20841727G>A	ENST00000262715.5	-	46	6660	c.6620C>T	c.(6619-6621)tCa>tTa	p.S2207L	TEP1_ENST00000545983.1_Missense_Mutation_p.S545L|TEP1_ENST00000556935.1_Missense_Mutation_p.S2099L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2207					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGAAGCTCTGACCCAGGCTG	0.577																																						uc001vxe.3																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6619-6621)tCa>tTa		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							72.0	68.0	69.0					14																	20841727		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841727G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6620C>T	14.37:g.20841727G>A	ENSP00000262715:p.Ser2207Leu					TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Missense_Mutation_p.S1550L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S2099L|TEP1_uc010tlh.1_Missense_Mutation_p.S545L	p.S2207L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	45	6660	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2207					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6620C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500287	0.85176	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.58797	2.12;2.12;0.31	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.252676	0.33670	N	0.004664	T	0.63745	0.2537	N	0.24115	0.695	0.39705	D	0.971249	D;P;D;P	0.89917	0.997;0.944;1.0;0.906	P;P;D;B	0.85130	0.84;0.646;0.997;0.444	T	0.68769	-0.5321	10	0.66056	D	0.02	-1.9902	14.3343	0.66578	0.0:0.0:1.0:0.0	.	545;2099;1550;2207	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	L	2207;2207;2099;545	ENSP00000262715:S2207L;ENSP00000452574:S2099L;ENSP00000438849:S545L	ENSP00000262715:S2207L	S	-	2	0	TEP1	19911567	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.489000	0.60309	2.459000	0.83118	0.655000	0.94253	TCA		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
BCL11B	64919	broad.mit.edu	37	14	99642350	99642351	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:99642350_99642351insCA	ENST00000357195.3	-	4	831_832	c.822_823insTG	c.(820-825)gtggcgfs	p.A275fs	BCL11B_ENST00000345514.2_Frame_Shift_Ins_p.A204fs|BCL11B_ENST00000443726.2_Frame_Shift_Ins_p.A81fs	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	275					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGGACTGCGCCACGGCCTCCG	0.718			T	TLX3	T-ALL																																	uc001yga.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(820-825)gtggcgfs		Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	64919					nucleus	zinc ion binding	g.chr14:99642350_99642351insCA	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.821_822dupTG	14.37:g.99642351_99642352dupCA	ENSP00000349723:p.Ala275fs					BCL11B_uc001ygb.3_Frame_Shift_Ins_p.V203fs	p.V274fs	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1089_1090	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	274					Q9H162	Frame_Shift_Ins	INS	ENST00000357195.3	37	c.822_823insTG	CCDS9950.1																																																																																				0.718	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
CASC5	57082	broad.mit.edu	37	15	40911168	40911168	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:40911168T>G	ENST00000346991.5	+	10	802	c.412T>G	c.(412-414)Ttg>Gtg	p.L138V	CASC5_ENST00000399668.2_Missense_Mutation_p.L112V|CASC5_ENST00000527044.1_Intron			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	138	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GATGAACACATTGCTTTCTGC	0.333																																						uc010bbs.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(412-414)Ttg>Gtg		Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.							157.0	149.0	152.0					15																	40911168		1859	4097	5956	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40911168T>G	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.412T>G	15.37:g.40911168T>G	ENSP00000335463:p.Leu138Val					CASC5_uc010ucq.1_Intron|CASC5_uc001zme.3_Missense_Mutation_p.L112V|CASC5_uc010bbt.1_Missense_Mutation_p.L112V	p.L138V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	9	573	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	138			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.412T>G	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619320	0.66787	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.60797	0.16;0.16	4.78	3.68	0.42216	.	0.000000	0.47852	D	0.000208	T	0.70430	0.3223	M	0.66939	2.045	0.25546	N	0.987134	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	T	0.60490	-0.7253	10	0.87932	D	0	.	9.5447	0.39273	0.0:0.0837:0.0:0.9163	.	112;138;112	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	V	138;112;112	ENSP00000335463:L138V;ENSP00000382576:L112V	ENSP00000260369:L112V	L	+	1	2	CASC5	38698460	0.974000	0.33945	0.974000	0.42286	0.976000	0.68499	1.517000	0.35867	2.143000	0.66587	0.455000	0.32223	TTG		0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
FES	2242	broad.mit.edu	37	15	91438682	91438682	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:91438682C>T	ENST00000328850.3	+	19	2505	c.2363C>T	c.(2362-2364)gCc>gTc	p.A788V	FES_ENST00000414248.2_Missense_Mutation_p.A660V|FES_ENST00000394300.3_Missense_Mutation_p.A730V|FES_ENST00000394302.1_Missense_Mutation_p.A647V|FES_ENST00000444422.2_Missense_Mutation_p.A718V|FES_ENST00000450438.2_Missense_Mutation_p.A660V	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	788	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTCCTGATGCCGTGTTCAGG	0.632																																						uc002bpv.3																			0				lung(2)|ovary(1)	3						c.(2362-2364)gCc>gTc		Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.							84.0	85.0	84.0					15																	91438682		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91438682C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2363C>T	15.37:g.91438682C>T	ENSP00000331504:p.Ala788Val					FES_uc010uqj.2_Missense_Mutation_p.A660V|FES_uc010uqk.2_Missense_Mutation_p.A770V|FES_uc002bpx.3_Missense_Mutation_p.A718V|FES_uc002bpy.3_Missense_Mutation_p.A730V|FES_uc010bny.3_Missense_Mutation_p.A647V	p.A788V	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		18	2482	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		788			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.2363C>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780376	0.49891	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.1	4.1	0.47936	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.115802	0.64402	D	0.000020	D	0.82664	0.5086	N	0.25890	0.77	0.41443	D	0.987938	D;P;D;D;P;D	0.89917	0.992;0.453;1.0;0.99;0.623;0.992	P;B;D;P;B;P	0.64506	0.646;0.189;0.926;0.49;0.189;0.624	T	0.83218	-0.0070	10	0.54805	T	0.06	-14.6729	10.0694	0.42324	0.3415:0.6585:0.0:0.0	.	770;660;647;730;718;788	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	V	788;660;647;718;730;660	ENSP00000331504:A788V;ENSP00000414629:A660V;ENSP00000377839:A647V;ENSP00000400868:A718V;ENSP00000377837:A730V;ENSP00000409915:A660V	ENSP00000331504:A788V	A	+	2	0	FES	89239686	1.000000	0.71417	0.497000	0.27552	0.909000	0.53808	4.483000	0.60264	2.294000	0.77228	0.555000	0.69702	GCC		0.632	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005	
ADAMTS17	170691	broad.mit.edu	37	15	100537641	100537641	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:100537641G>A	ENST00000268070.4	-	19	2850	c.2745C>T	c.(2743-2745)agC>agT	p.S915S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	915	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCCTTCACAGCTCTGCACTg	0.677																																						uc002bvv.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2743-2745)agC>agT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.							34.0	37.0	36.0					15																	100537641		2202	4300	6502	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100537641G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2745C>T	15.37:g.100537641G>A							p.S915S	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	18	2824	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		915			TSP type-1 3.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2745C>T	CCDS10383.1																																																																																				0.677	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
ZKSCAN2	342357	broad.mit.edu	37	16	25251946	25251946	+	Missense_Mutation	SNP	C	C	T	rs148950715	byFrequency	TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr16:25251946C>T	ENST00000328086.7	-	7	2898	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	699					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGCTGGGGTCGGTACTCTGG	0.418													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19248	0.0		0.0	False		,,,				2504	0.0					uc002dod.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2095-2097)Gac>Aac		Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.		C	ASN/ASP	2,4392	4.2+/-10.8	0,2,2195	125.0	117.0	120.0		2095	4.2	0.0	16	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZKSCAN2	NM_001012981.4	23	0,3,6494	TT,TC,CC		0.0116,0.0455,0.0231	benign	699/968	25251946	3,12991	2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251946C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2095G>A	16.37:g.25251946C>T	ENSP00000331626:p.Asp699Asn					ZKSCAN2_uc010vcl.2_Missense_Mutation_p.D495N	p.D699N	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2502	-			699					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2095G>A	CCDS32410.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	0.014	-1.594155	0.00857	4.55E-4	1.16E-4	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.06449	3.3	5.13	4.17	0.49024	.	0.179867	0.39341	N	0.001390	T	0.02304	0.0071	N	0.16307	0.4	0.09310	N	1	B;B	0.21520	0.001;0.057	B;B	0.13407	0.001;0.009	T	0.42766	-0.9432	10	0.02654	T	1	-15.6442	10.5507	0.45087	0.0:0.9052:0.0:0.0948	.	495;699	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	N	699	ENSP00000331626:D699N	ENSP00000331626:D699N	D	-	1	0	ZKSCAN2	25159447	0.065000	0.20965	0.026000	0.17262	0.082000	0.17680	0.208000	0.17415	1.373000	0.46208	0.655000	0.94253	GAC		0.418	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.G245S	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PIRT	644139	broad.mit.edu	37	17	10728644	10728644	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:10728644C>T	ENST00000580256.2	-	2	957	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	107						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CACACCAGCCCGCACACCAGC	0.527																																						uc010col.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(319-321)Ggg>Agg		Homo sapiens phosphoinositide-interacting regulator of transient receptor potential channels (PIRT), mRNA.							95.0	98.0	97.0					17																	10728644		2096	4235	6331	SO:0001583	missense	644139					integral to membrane		g.chr17:10728644C>T	AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.319G>A	17.37:g.10728644C>T	ENSP00000462046:p.Gly107Arg					PIRT_uc021tqe.1_Missense_Mutation_p.G107R	p.G107R	NM_001101387	NP_001094857	P0C851	PIRT_HUMAN			1	614	-			107					B7Z648	Missense_Mutation	SNP	ENST00000580256.2	37	c.319G>A	CCDS45614.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635558	0.87760	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	T	0.67636	0.2914	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.69888	-0.5023	8	0.87932	D	0	-3.1974	16.6254	0.84969	0.0:1.0:0.0:0.0	.	107	P0C851	PIRT_HUMAN	R	107	.	ENSP00000408936:G107R	G	-	1	0	PIRT	10669369	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	6.129000	0.71657	2.782000	0.95742	0.655000	0.94253	GGG		0.527	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387	
CCL3	6348	broad.mit.edu	37	17	34416597	34416597	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:34416597C>T	ENST00000225245.5	-	2	202	c.120G>A	c.(118-120)cgG>cgA	p.R40R	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	40		Involved in GAG binding.			astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGGAATCTGCCGGGAGGTGT	0.542																																						uc002hkv.3																			0				breast(2)|lung(3)|urinary_tract(1)	6						c.(118-120)cgG>cgA		Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.							136.0	143.0	141.0					17																	34416597		2203	4297	6500	SO:0001819	synonymous_variant	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416597C>T	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.120G>A	17.37:g.34416597C>T							p.R40R	NM_002983	NP_002974	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	222	-		Ovarian(249;0.17)	40				Involved in GAG binding.		Silent	SNP	ENST00000225245.5	37	c.120G>A	CCDS11307.1																																																																																				0.542	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983	
KIF18B	146909	broad.mit.edu	37	17	43004364	43004364	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:43004364C>T	ENST00000593135.1	-	14	2456	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	KIF18B_ENST00000590129.1_Missense_Mutation_p.V808I|KIF18B_ENST00000587309.1_Missense_Mutation_p.V799I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V799I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V790I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	799					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637																																						uc010wji.2																			1	Substitution - Missense(1)	p.V799I(1)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(2368-2370)Gtt>Att		Homo sapiens kinesin family member 18B (KIF18B), mRNA.							33.0	36.0	35.0					17																	43004364		2033	4203	6236	SO:0001583	missense	146909							g.chr17:43004364C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2359G>A	17.37:g.43004364C>T	ENSP00000465992:p.Val787Ile					KIF18B_uc002iht.3_Missense_Mutation_p.V799I|KIF18B_uc010wjh.2_Missense_Mutation_p.V787I	p.V790I	NM_001080443	NP_001073912					13	2469	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.2368G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	7.843	0.722392	0.15439	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72615	-0.66;-0.67	4.94	-9.87	0.00470	.	.	.	.	.	T	0.44117	0.1278	N	0.16478	0.41	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.29579	-1.0007	9	0.36615	T	0.2	.	4.9781	0.14151	0.0807:0.4484:0.343:0.1279	.	799;796;808	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	799;790;799	ENSP00000412798:V799I;ENSP00000341466:V790I	ENSP00000341466:V790I	V	-	1	0	KIF18B	40359890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.657000	0.00202	-3.230000	0.00209	-1.004000	0.02495	GTT		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443	
MUC16	94025	broad.mit.edu	37	19	9077406	9077406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:9077406C>T	ENST00000397910.4	-	3	10243	c.10040G>A	c.(10039-10041)tGg>tAg	p.W3347*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3348	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGCCATGCCACATAGAGAA	0.502																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(10039-10041)tGg>tAg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							175.0	163.0	167.0					19																	9077406		1942	4151	6093	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077406C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10040G>A	19.37:g.9077406C>T	ENSP00000381008:p.Trp3347*						p.W3347*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	10244	-			3348			Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.10040G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	51	17.854909	0.99894	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.73	-0.79	0.10932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.2196	0.03969	0.2998:0.5021:0.0:0.1981	.	.	.	.	X	3347	.	ENSP00000381008:W3347X	W	-	2	0	MUC16	8938406	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	0.105000	0.15333	-0.126000	0.11682	0.205000	0.17691	TGG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
C19orf54	284325	broad.mit.edu	37	19	41250512	41250512	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:41250512G>A	ENST00000378313.2	-	3	588	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	C19orf54_ENST00000339153.3_Missense_Mutation_p.T26M|C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598729.1_Missense_Mutation_p.T26M|C19orf54_ENST00000598485.2_Missense_Mutation_p.T26M|C19orf54_ENST00000470681.1_Missense_Mutation_p.R19W	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	157										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTGGCCACCCGTATGAGTCTC	0.627																																						uc002oou.1																			0				breast(1)|lung(1)|urinary_tract(2)	4						c.(469-471)Cgg>Tgg		Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.							79.0	59.0	66.0					19																	41250512		2203	4300	6503	SO:0001583	missense	284325							g.chr19:41250512G>A	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.469C>T	19.37:g.41250512G>A	ENSP00000367564:p.Arg157Trp					C19orf54_uc002oow.1_Missense_Mutation_p.T26M|C19orf54_uc002oox.1_Non-coding_Transcript|C19orf54_uc002ooy.1_Missense_Mutation_p.R19W|C19orf54_uc010xvs.1_Non-coding_Transcript	p.R157W	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	589	-			157					A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	c.469C>T	CCDS12564.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919553|2.919553	0.52653|0.52653	.|.	.|.	ENSG00000188493|ENSG00000188493	ENST00000378313|ENST00000339153	.|.	.|.	.|.	5.83|5.83	4.77|4.77	0.60923|0.60923	.|.	2.468160|.	0.01632|.	N|.	0.023590|.	T|T	0.25344|0.25344	0.0616|0.0616	N|N	0.19112|0.19112	0.55|0.55	0.18873|0.18873	N|N	0.999988|0.999988	P;D|P	0.57257|0.43094	0.77;0.979|0.799	B;B|B	0.43123|0.37780	0.292;0.409|0.258	T|T	0.10019|0.10019	-1.0648|-1.0648	9|8	0.87932|0.36615	D|T	0|0.2	-9.6704|-9.6704	14.6269|14.6269	0.68626|0.68626	0.0:0.2384:0.7616:0.0|0.0:0.2384:0.7616:0.0	.|.	19;157|26	Q6ZWG5;Q5BKX5|Q5BKX5-3	.;CS054_HUMAN|.	W|M	157|26	.|.	ENSP00000367564:R157W|ENSP00000341122:T26M	R|T	-|-	1|2	2|0	C19orf54|C19orf54	45942352|45942352	0.953000|0.953000	0.32496|0.32496	0.991000|0.991000	0.47740|0.47740	0.534000|0.534000	0.34807|0.34807	1.863000|1.863000	0.39459|0.39459	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.627	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476	
CEACAM5	1048	broad.mit.edu	37	19	42213611	42213611	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:42213611C>A	ENST00000221992.6	+	2	191	c.77C>A	c.(76-78)aCc>aAc	p.T26N	CEACAM5_ENST00000398599.4_Missense_Mutation_p.T26N|CEA_ENST00000598976.1_Missense_Mutation_p.T26N|CEACAM5_ENST00000405816.1_Missense_Mutation_p.T26N|CEACAM7_ENST00000599715.1_5'Flank	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	26					homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCACTTCTAACCTTCTGGAAC	0.537																																						uc002orl.3																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(76-78)aCc>aAc		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.							142.0	134.0	137.0					19																	42213611		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213611C>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.77C>A	19.37:g.42213611C>A	ENSP00000221992:p.Thr26Asn					CEACAM5_uc010ehz.1_Missense_Mutation_p.T26N|CEACAM5_uc002orj.1_Missense_Mutation_p.T26N	p.T26N	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	1	198	+			26					H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.77C>A	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	15.33|15.33	2.800275|2.800275	0.50208|0.50208	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	.|T;T	.|0.39787	.|1.06;1.06	3.0|3.0	-0.994|-0.994	0.10225|0.10225	.|.	.|.	.|.	.|.	.|.	T|T	0.46580|0.46580	0.1400|0.1400	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|P;P;D	.|0.54601	.|0.95;0.877;0.967	.|P;P;P	.|0.62014	.|0.896;0.627;0.897	T|T	0.44682|0.44682	-0.9312|-0.9312	5|9	.|0.08599	.|T	.|0.76	.|.	4.6893|4.6893	0.12772|0.12772	0.0:0.4121:0.4466:0.1413|0.0:0.4121:0.4466:0.1413	.|.	.|26;26;26	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	K|N	22|26	.|ENSP00000221992:T26N;ENSP00000385072:T26N	.|ENSP00000221992:T26N	N|T	+|+	3|2	2|0	CEACAM5|CEACAM5	46905451|46905451	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.679000|0.679000	0.39708|0.39708	-0.607000|-0.607000	0.05648|0.05648	0.121000|0.121000	0.18284|0.18284	0.305000|0.305000	0.20034|0.20034	AAC|ACC		0.537	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363	
NLRP12	91662	broad.mit.edu	37	19	54312882	54312882	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:54312882G>A	ENST00000324134.6	-	3	2199	c.2031C>T	c.(2029-2031)cgC>cgT	p.R677R	NLRP12_ENST00000391772.1_Silent_p.R677R|NLRP12_ENST00000351894.4_Silent_p.R677R|NLRP12_ENST00000391773.1_Silent_p.R677R|NLRP12_ENST00000535162.1_Silent_p.R677R|NLRP12_ENST00000391775.3_Silent_p.R677R|NLRP12_ENST00000345770.5_Silent_p.R677R|NLRP12_ENST00000354278.3_Silent_p.R677R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	677					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCACCTCGCGCGGTCTTCCC	0.587																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2029-2031)cgC>cgT		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							30.0	28.0	29.0					19																	54312882		2203	4299	6502	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54312882G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2031C>T	19.37:g.54312882G>A						NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.R677R|NLRP12_uc002qci.4_Silent_p.R677R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.R677R	p.R677R	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	2251	-	Ovarian(34;0.19)		677					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.2031C>T	CCDS12864.1																																																																																				0.587	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
SLC30A3	7781	broad.mit.edu	37	2	27481038	27481038	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:27481038G>A	ENST00000233535.4	-	3	767	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	SLC30A3_ENST00000447008.2_Missense_Mutation_p.H134Y	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	139					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAACGGTGCCAGCCAAAG	0.637																																						uc002rjk.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(415-417)Cac>Tac		Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.							71.0	76.0	74.0					2																	27481038		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481038G>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.415C>T	2.37:g.27481038G>A	ENSP00000233535:p.His139Tyr					SLC30A3_uc002rjj.3_5'UTR|SLC30A3_uc010ylh.2_Missense_Mutation_p.H134Y	p.H139Y	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			2	601	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		139					Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.415C>T	CCDS1743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.558403|2.558403	0.45590|0.45590	.|.	.|.	ENSG00000115194|ENSG00000115194	ENST00000445870|ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577;ENST00000450118;ENST00000426569	.|T;T;T;T;T;T;T	.|0.62105	.|0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55049|0.55049	0.1896|0.1896	L|L	0.39514|0.39514	1.22|1.22	0.80722|0.80722	D|D	1|1	.|B;P	.|0.36683	.|0.189;0.565	.|B;B	.|0.36666	.|0.111;0.23	T|T	0.50541|0.50541	-0.8816|-0.8816	5|10	.|0.23302	.|T	.|0.38	-22.2928|-22.2928	17.5007|17.5007	0.87731|0.87731	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|134;139	.|F5H3B7;Q99726	.|.;ZNT3_HUMAN	V|Y	127|139;134;90;126;117;90;90	.|ENSP00000233535:H139Y;ENSP00000415226:H134Y;ENSP00000414320:H90Y;ENSP00000393545:H126Y;ENSP00000403959:H117Y;ENSP00000403912:H90Y;ENSP00000392673:H90Y	.|ENSP00000233535:H139Y	A|H	-|-	2|1	0|0	SLC30A3|SLC30A3	27334542|27334542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.035000|8.035000	0.88872|0.88872	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.637	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2		
IL1A	3552	broad.mit.edu	37	2	113537182	113537182	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:113537182C>T	ENST00000263339.3	-	5	536	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	127					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TGATGATCCTCATAAAGTTGT	0.393																																						uc002tig.3																			0				breast(2)|large_intestine(1)|lung(9)	12						c.(379-381)atG>atA		Homo sapiens interleukin 1, alpha (IL1A), mRNA.							160.0	127.0	138.0					2																	113537182		2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113537182C>T	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.381G>A	2.37:g.113537182C>T	ENSP00000263339:p.Met127Ile						p.M127I	NM_000575	NP_000566	P01583	IL1A_HUMAN			4	1341	-			127					Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.381G>A	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	C	0.780	-0.762705	0.02996	.	.	ENSG00000115008	ENST00000263339	T	0.21191	2.02	4.44	-5.23	0.02798	.	1.732990	0.02637	N	0.104892	T	0.07773	0.0195	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20672	-1.0268	10	0.13853	T	0.58	-17.9825	3.5876	0.07977	0.1054:0.3138:0.1041:0.4767	.	127	P01583	IL1A_HUMAN	I	127	ENSP00000263339:M127I	ENSP00000263339:M127I	M	-	3	0	IL1A	113253653	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.374000	0.02566	-1.589000	0.01625	-2.925000	0.00089	ATG		0.393	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575	
ARMC9	80210	broad.mit.edu	37	2	232127073	232127073	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:232127073A>T	ENST00000349938.4	+	12	1275	c.1081A>T	c.(1081-1083)Atc>Ttc	p.I361F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	361						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCAAGCCTACATCAGCAATGA	0.498																																						uc002vrq.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1081-1083)Atc>Ttc		Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.							145.0	131.0	136.0					2																	232127073		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232127073A>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1081A>T	2.37:g.232127073A>T	ENSP00000258417:p.Ile361Phe					ARMC9_uc002vrp.4_Missense_Mutation_p.I361F|ARMC9_uc002vrr.1_Non-coding_Transcript	p.I361F	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	11	1193	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	361					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1081A>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379908	0.61845	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339	T	0.21191	2.02	4.03	1.59	0.23543	.	0.104352	0.64402	D	0.000006	T	0.20047	0.0482	L	0.49350	1.555	0.58432	D	0.99999	B	0.33940	0.433	B	0.38264	0.269	T	0.02917	-1.1094	10	0.56958	D	0.05	-10.0226	7.5643	0.27870	0.811:0.0:0.189:0.0	.	361	Q7Z3E5	ARMC9_HUMAN	F	361;361;78	ENSP00000258417:I361F	ENSP00000258417:I361F	I	+	1	0	ARMC9	231835317	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.694000	0.47035	0.115000	0.18071	0.329000	0.21502	ATC		0.498	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	
BCAS1	8537	broad.mit.edu	37	20	52570143	52570143	+	Missense_Mutation	SNP	T	T	C	rs372161022		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr20:52570143T>C	ENST00000395961.3	-	11	1674	c.1508A>G	c.(1507-1509)aAg>aGg	p.K503R	BCAS1_ENST00000371440.3_Missense_Mutation_p.K512R|BCAS1_ENST00000434986.2_Missense_Mutation_p.K169R|BCAS1_ENST00000371435.2_Missense_Mutation_p.K425R	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	503						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCTGACTTCTTGTCCTTCGA	0.537																																						uc002xws.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1507-1509)aAg>aGg		Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.		T	ARG/LYS	0,4406		0,0,2203	252.0	194.0	214.0		1508	5.2	1.0	20		214	1,8599	1.2+/-3.3	0,1,4299	no	missense	BCAS1	NM_003657.2	26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	503/585	52570143	1,13005	2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52570143T>C	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1508A>G	20.37:g.52570143T>C	ENSP00000379290:p.Lys503Arg					BCAS1_uc010zza.1_Missense_Mutation_p.K169R|BCAS1_uc010zzb.1_Missense_Mutation_p.K429R|BCAS1_uc010gim.2_Missense_Mutation_p.K359R|BCAS1_uc002xwt.2_Missense_Mutation_p.K489R|BCAS1_uc010gil.1_Missense_Mutation_p.K425R	p.K503R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		10	1846	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		503					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1508A>G	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.82|19.82	3.898468|3.898468	0.72639|0.72639	0.0|0.0	1.16E-4|1.16E-4	ENSG00000064787|ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986|ENST00000422805	T;T;T;T;T|.	0.10860|.	2.83;2.83;2.83;2.83;2.83|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.364375|.	0.26463|.	N|.	0.024228|.	T|T	0.70456|0.70456	0.3226|0.3226	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.998;1.0;0.998;0.998;0.998|.	D;D;D;D;D;D|.	0.87578|.	0.998;0.991;0.998;0.991;0.994;0.994|.	T|T	0.70644|0.70644	-0.4815|-0.4815	10|5	0.12430|.	T|.	0.62|.	-18.8022|-18.8022	12.7642|12.7642	0.57383|0.57383	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	503;169;512;425;503;503|.	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363|.	.;.;.;.;.;BCAS1_HUMAN|.	R|G	374;512;303;503;425;169|166	ENSP00000396361:K374R;ENSP00000360495:K512R;ENSP00000379290:K503R;ENSP00000360490:K425R;ENSP00000409956:K169R|.	ENSP00000360490:K425R|.	K|R	-|-	2|1	0|2	BCAS1|BCAS1	52003550|52003550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.633000|0.633000	0.38033|0.38033	2.278000|2.278000	0.43426|0.43426	1.946000|1.946000	0.56461|0.56461	0.454000|0.454000	0.30748|0.30748	AAG|AGA		0.537	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657	
RAD54L2	23132	broad.mit.edu	37	3	51690165	51690165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:51690165C>T	ENST00000409535.2	+	19	3330	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.Q763*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1069						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGTCCTTGTGCAGAAGGTGGT	0.493																																						uc011bdt.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(3205-3207)Cag>Tag		Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.							73.0	64.0	67.0					3																	51690165		2203	4300	6503	SO:0001587	stop_gained	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51690165C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3205C>T	3.37:g.51690165C>T	ENSP00000386520:p.Gln1069*					RAD54L2_uc003dbh.3_Nonsense_Mutation_p.Q658*|RAD54L2_uc011bdu.2_Nonsense_Mutation_p.Q763*|RAD54L2_uc003dbj.3_Nonsense_Mutation_p.Q395*	p.Q1069*	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	18	3330	+			1069					Q8TB57|Q9BV54	Nonsense_Mutation	SNP	ENST00000409535.2	37	c.3205C>T	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.947530|9.947530	0.99302|0.99302	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77785|.	0.4182|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78448|.	-0.2200|.	3|.	.|0.56958	.|D	.|0.05	-14.7333|-14.7333	18.7862|18.7862	0.91955|0.91955	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	897|1069;763	.|.	.|ENSP00000296477:Q763X	A|Q	+|+	2|1	0|0	RAD54L2|RAD54L2	51665205|51665205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.453000|7.453000	0.80700|0.80700	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.493	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106	
DPPA2	151871	broad.mit.edu	37	3	109028077	109028077	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:109028077C>G	ENST00000478945.1	-	4	528	c.282G>C	c.(280-282)aaG>aaC	p.K94N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	94	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGACACACCTTATTAATGG	0.443																																						uc003dxo.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(280-282)aaG>aaC		Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.							174.0	177.0	176.0					3																	109028077		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028077C>G	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.282G>C	3.37:g.109028077C>G	ENSP00000417710:p.Lys94Asn						p.K94N	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			3	529	-			94			SAP.		Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.282G>C	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	8.852	0.944792	0.18356	.	.	ENSG00000163530	ENST00000478945	T	0.46451	0.87	4.66	-9.33	0.00639	DNA-binding SAP (2);	2.007740	0.01812	N	0.033511	T	0.27241	0.0668	L	0.51422	1.61	0.09310	N	1	P	0.40144	0.704	B	0.31946	0.138	T	0.32295	-0.9912	10	0.49607	T	0.09	-0.0289	3.1357	0.06438	0.4618:0.1785:0.2602:0.0996	.	94	Q7Z7J5	DPPA2_HUMAN	N	94	ENSP00000417710:K94N	ENSP00000417710:K94N	K	-	3	2	DPPA2	110510767	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.541000	0.02198	-3.380000	0.00175	-0.397000	0.06425	AAG		0.443	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815	
COL6A5	256076	broad.mit.edu	37	3	130095557	130095557	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:130095557C>T	ENST00000432398.2	+	3	1039	c.545C>T	c.(544-546)aCa>aTa	p.T182I	COL6A5_ENST00000265379.6_Missense_Mutation_p.T182I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	182	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCCATGGCCACATCCCATTTC	0.473																																						uc010htj.1																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(544-546)aCa>aTa		Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.							99.0	90.0	93.0					3																	130095557		692	1591	2283	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130095557C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.545C>T	3.37:g.130095557C>T	ENSP00000390895:p.Thr182Ile					COL6A5_uc010hti.1_Non-coding_Transcript	p.T182I	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			2	1039	+			182			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.545C>T		.	.	.	.	.	.	.	.	.	.	C	12.32	1.903450	0.33628	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.79033	-1.23;-1.23	5.0	5.0	0.66597	.	.	.	.	.	D	0.88418	0.6431	M	0.80746	2.51	0.28844	N	0.896433	D	0.89917	1.0	D	0.80764	0.994	T	0.83066	-0.0145	9	0.38643	T	0.18	.	17.4382	0.87558	0.0:1.0:0.0:0.0	.	182	A8TX70-2	.	I	182	ENSP00000390895:T182I;ENSP00000265379:T182I	ENSP00000265379:T182I	T	+	2	0	COL6A5	131578247	0.964000	0.33143	0.973000	0.42090	0.448000	0.32197	2.179000	0.42528	2.483000	0.83821	0.455000	0.32223	ACA		0.473	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
PDGFRA	5156	broad.mit.edu	37	4	55133558	55133558	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:55133558T>C	ENST00000257290.5	+	6	1193	c.862T>C	c.(862-864)Tac>Cac	p.Y288H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	288	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CAGTGGAGATTACGAATGTGC	0.473			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(862-864)Tac>Cac		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						89.0	91.0	90.0					4																	55133558		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133558T>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.862T>C	4.37:g.55133558T>C	ENSP00000257290:p.Tyr288His	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.Y182H|PDGFRA_uc003ham.2_Non-coding_Transcript	p.Y288H	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1193	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		288			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.862T>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734196	0.89482	.	.	ENSG00000134853	ENST00000257290	D	0.87491	-2.26	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29676	U	0.011488	D	0.93815	0.8022	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.94594	0.7790	10	0.87932	D	0	.	15.8998	0.79365	0.0:0.0:0.0:1.0	.	288;288	P16234-3;P16234	.;PGFRA_HUMAN	H	288	ENSP00000257290:Y288H	ENSP00000257290:Y288H	Y	+	1	0	PDGFRA	54828315	1.000000	0.71417	0.881000	0.34555	0.988000	0.76386	6.589000	0.74080	2.165000	0.68154	0.260000	0.18958	TAC		0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
RBM46	166863	broad.mit.edu	37	4	155720138	155720138	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:155720138T>C	ENST00000281722.3	+	4	1059	c.824T>C	c.(823-825)tTt>tCt	p.F275S	RBM46_ENST00000510397.1_Missense_Mutation_p.F275S|RBM46_ENST00000514866.1_Missense_Mutation_p.F275S	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	275	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GATTATGCTTTTGTTCACTTT	0.363																																						uc003ioo.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(823-825)tTt>tCt		Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.							103.0	93.0	96.0					4																	155720138		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155720138T>C	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.824T>C	4.37:g.155720138T>C	ENSP00000281722:p.Phe275Ser					RBM46_uc011cim.1_Missense_Mutation_p.F275S|RBM46_uc003iop.1_Missense_Mutation_p.F275S	p.F275S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN			3	997	+	all_hematologic(180;0.24)	Renal(120;0.0854)	275			RRM 3.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.824T>C	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865945	0.71949	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	D;D;D	0.83419	-1.72;-1.72;-1.72	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.996	D	0.95188	0.8305	10	0.87932	D	0	-19.8516	16.8222	0.85835	0.0:0.0:0.0:1.0	.	275;275;275	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	S	275	ENSP00000424500:F275S;ENSP00000281722:F275S;ENSP00000422813:F275S	ENSP00000281722:F275S	F	+	2	0	RBM46	155939588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.331000	0.79192	2.371000	0.80710	0.533000	0.62120	TTT		0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
LPCAT1	79888	broad.mit.edu	37	5	1494825	1494825	+	Silent	SNP	C	C	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:1494825C>A	ENST00000283415.3	-	3	615	c.483G>T	c.(481-483)ccG>ccT	p.P161P		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	161					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTCCCCAGATCGGGATGTCTC	0.597																																						uc003jcm.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(481-483)ccG>ccT		Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.							92.0	76.0	82.0					5																	1494825		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1494825C>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.483G>T	5.37:g.1494825C>A							p.P161P	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	2	600	-			161					Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.483G>T	CCDS3864.1																																																																																				0.597	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830	
HSPB3	8988	broad.mit.edu	37	5	53751847	53751847	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:53751847C>T	ENST00000302005.1	+	1	403	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	76					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547																																						uc003jph.2																			0		p.D76V(1)|p.L75L(1)		breast(1)|large_intestine(4)|prostate(3)	8						c.(226-228)gaC>gaT		Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.							95.0	87.0	89.0					5																	53751847		2203	4300	6503	SO:0001819	synonymous_variant	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751847C>T	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.228C>T	5.37:g.53751847C>T							p.D76D	NM_006308	NP_006299	Q12988	HSPB3_HUMAN			0	417	+		Lung NSC(810;0.00104)	76						Silent	SNP	ENST00000302005.1	37	c.228C>T	CCDS3961.1																																																																																				0.547	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2		
CTNNA1	1495	broad.mit.edu	37	5	138221907	138221907	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:138221907C>T	ENST00000302763.7	+	8	1159	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	CTNNA1_ENST00000355078.5_Missense_Mutation_p.R254C|CTNNA1_ENST00000540387.1_5'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R357C|CTNNA1_ENST00000520400.1_3'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	357	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCAGGCTGGACGTAAAGAAAG	0.378																																						uc003ldh.3																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1069-1071)Cgt>Tgt		Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.							116.0	121.0	119.0					5																	138221907		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138221907C>T	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1069C>T	5.37:g.138221907C>T	ENSP00000304669:p.Arg357Cys					CTNNA1_uc011cyx.2_Missense_Mutation_p.R254C|CTNNA1_uc011cyy.2_Missense_Mutation_p.R234C|CTNNA1_uc003ldi.3_Missense_Mutation_p.R55C|CTNNA1_uc003ldj.3_Missense_Mutation_p.R357C|CTNNA1_uc003ldl.3_5'UTR	p.R357C	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	1164	+			357			Interaction with alpha-actinin.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1069C>T	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492968	0.64074	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.39056	1.1;1.1;1.1	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.36672	1.1	0.80722	D	1	B;B;B	0.21821	0.061;0.031;0.037	B;B;B	0.24269	0.033;0.035;0.052	T	0.15896	-1.0421	10	0.56958	D	0.05	-1.3304	19.6978	0.96034	0.0:1.0:0.0:0.0	.	357;234;357	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	C	254;357;357;342;357	ENSP00000347190:R254C;ENSP00000304669:R357C;ENSP00000427821:R357C	ENSP00000304669:R357C	R	+	1	0	CTNNA1	138249806	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.766000	0.62279	2.756000	0.94617	0.655000	0.94253	CGT		0.378	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
PCDHGA9	56107	broad.mit.edu	37	5	140782734	140782734	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:140782734C>T	ENST00000573521.1	+	1	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M	PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGTAGGACGCAGCTTTTC	0.622																																						uc003lkh.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(214-216)aCg>aTg		Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.							58.0	69.0	66.0					5																	140782734		2078	4241	6319	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140782734C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.215C>T	5.37:g.140782734C>T	ENSP00000460274:p.Thr72Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.T72M	p.T72M	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	215	+			72			Cadherin 1.		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.215C>T	CCDS58981.1																																																																																				0.622	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921	
BTNL8	79908	broad.mit.edu	37	5	180377067	180377067	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:180377067C>T	ENST00000340184.4	+	8	1232	c.1026C>T	c.(1024-1026)taC>taT	p.Y342Y	BTNL8_ENST00000400707.3_Silent_p.Y217Y|BTNL8_ENST00000505126.1_Silent_p.Y135Y|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Silent_p.Y158Y|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Silent_p.Y226Y	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	342	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAACATTACTGGGAGGTGG	0.522																																						uc003mmp.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1024-1026)taC>taT		Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.							108.0	108.0	108.0					5																	180377067		2141	3941	6082	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180377067C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1026C>T	5.37:g.180377067C>T						BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Silent_p.Y217Y|BTNL8_uc010jlm.3_Silent_p.Y226Y|BTNL8_uc011dhh.2_Silent_p.Y158Y	p.Y342Y	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1260	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	342			B30.2/SPRY.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.1026C>T	CCDS43413.1																																																																																				0.522	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850	
KIF13A	63971	broad.mit.edu	37	6	17772259	17772259	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:17772259G>A	ENST00000259711.6	-	37	4461	c.4356C>T	c.(4354-4356)acC>acT	p.T1452T	KIF13A_ENST00000378814.5_Silent_p.T1439T|KIF13A_ENST00000378826.2_Silent_p.T1452T|KIF13A_ENST00000378843.2_Silent_p.T1439T|KIF13A_ENST00000378816.5_Silent_p.T1452T	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1452					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGGGCTGACGGTTAAGGCAT	0.433																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4354-4356)acC>acT		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							117.0	111.0	113.0					6																	17772259		1914	4134	6048	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17772259G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4356C>T	6.37:g.17772259G>A						KIF13A_uc003ncf.3_Silent_p.T1439T|KIF13A_uc003nch.4_Silent_p.T1452T|KIF13A_uc003nci.4_Silent_p.T1439T|KIF13A_uc003nce.2_Silent_p.T38T	p.T1452T	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		36	4516	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1452					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.4356C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	6.716	0.500830	0.12822	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.36	-9.58	0.00559	.	.	.	.	.	T	0.05868	0.0153	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17349	-1.0372	4	.	.	.	.	4.9715	0.14117	0.1543:0.2677:0.4586:0.1194	.	.	.	.	L	846	.	.	P	-	2	0	KIF13A	17880238	0.005000	0.15991	0.129000	0.21949	0.875000	0.50365	-0.557000	0.05985	-1.950000	0.01030	-1.128000	0.01989	CCG		0.433	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
DAXX	1616	broad.mit.edu	37	6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:33289539C>T	ENST00000374542.5	-	2	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_ENST00000266000.6_Missense_Mutation_p.G55D|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	55	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTCTTGCCGCCCGAACT	0.602			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.3				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(163-165)gGc>gAc		Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.							221.0	227.0	225.0					6																	33289539		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289539C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.164G>A	6.37:g.33289539C>T	ENSP00000363668:p.Gly55Asp					DAXX_uc021ywn.1_Missense_Mutation_p.G55D|DAXX_uc021ywo.1_Missense_Mutation_p.G55D|DAXX_uc011dre.2_Missense_Mutation_p.G67D|DAXX_uc003oed.3_Missense_Mutation_p.G55D|DAXX_uc011drd.2_Intron|DAXX_uc010juw.2_5'UTR	p.G55D	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN			1	368	-			55			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.164G>A	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608951	0.28623	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407	.	.	.	4.89	4.02	0.46733	.	0.660504	0.16364	N	0.217655	T	0.29355	0.0731	L	0.36672	1.1	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.44860	0.462;0.462	T	0.03503	-1.1030	9	0.25106	T	0.35	-0.4917	10.4358	0.44435	0.1947:0.8053:0.0:0.0	.	67;55	B4E1C1;Q9UER7	.;DAXX_HUMAN	D	55	.	ENSP00000266000:G55D	G	-	2	0	DAXX	33397517	0.869000	0.29996	0.983000	0.44433	0.735000	0.41995	1.033000	0.30191	1.281000	0.44480	0.549000	0.68633	GGC		0.602	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1		
KPNA5	3841	broad.mit.edu	37	6	117023258	117023258	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:117023258C>G	ENST00000368564.1	+	6	660	c.512C>G	c.(511-513)gCt>gGt	p.A171G	KPNA5_ENST00000356348.1_Missense_Mutation_p.A171G			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	168	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GAAACTGGGGCTGTTCCGATT	0.338																																						uc003pxh.3																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(511-513)gCt>gGt		Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.							116.0	115.0	116.0					6																	117023258		2203	4300	6503	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117023258C>G	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.512C>G	6.37:g.117023258C>G	ENSP00000357552:p.Ala171Gly						p.A171G	NM_002269	NP_002260	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	5	643	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	168			NLS binding site (major) (By similarity).		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.512C>G	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190558	0.94923	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.70516	-0.49;-0.49	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84019	0.5380	M	0.86343	2.81	0.58432	D	0.999997	D	0.65815	0.995	D	0.65233	0.933	D	0.86047	0.1523	10	0.66056	D	0.02	.	19.3845	0.94551	0.0:1.0:0.0:0.0	.	168	O15131	IMA5_HUMAN	G	171	ENSP00000357552:A171G;ENSP00000348704:A171G	ENSP00000348704:A171G	A	+	2	0	KPNA5	117129951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.174000	0.77620	2.596000	0.87737	0.591000	0.81541	GCT		0.338	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269	
UTRN	7402	broad.mit.edu	37	6	144757266	144757266	+	Missense_Mutation	SNP	A	A	T	rs150684617		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:144757266A>T	ENST00000367545.3	+	9	1051	c.1051A>T	c.(1051-1053)Acc>Tcc	p.T351S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	351	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGTTTGCAACCCATGAAGT	0.453																																						uc003qkt.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1051-1053)Acc>Tcc		Homo sapiens utrophin (UTRN), mRNA.		A	SER/THR	0,4406		0,0,2203	124.0	114.0	117.0		1051	5.8	1.0	6	dbSNP_134	117	3,8597	3.0+/-9.4	0,3,4297	no	missense	UTRN	NM_007124.2	58	0,3,6500	TT,TA,AA		0.0349,0.0,0.0231	probably-damaging	351/3434	144757266	3,13003	2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144757266A>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1051A>T	6.37:g.144757266A>T	ENSP00000356515:p.Thr351Ser					UTRN_uc010khq.1_Missense_Mutation_p.T351S	p.T351S	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	8	1143	+		Ovarian(120;0.218)	351			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1051A>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.576197	0.86645	0.0	3.49E-4	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.50001	0.76	5.77	5.77	0.91146	.	0.000000	0.56097	D	0.000032	T	0.60881	0.2303	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63042	-0.6725	10	0.52906	T	0.07	.	16.383	0.83481	1.0:0.0:0.0:0.0	.	351	P46939	UTRO_HUMAN	S	351	ENSP00000356515:T351S	ENSP00000356499:T351S	T	+	1	0	UTRN	144798959	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	7.419000	0.80179	2.326000	0.78906	0.533000	0.62120	ACC		0.453	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
DMTF1	9988	broad.mit.edu	37	7	86811558	86811558	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:86811558A>G	ENST00000394703.5	+	12	1288	c.725A>G	c.(724-726)cAt>cGt	p.H242R	DMTF1_ENST00000411766.2_3'UTR|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000331242.7_Missense_Mutation_p.H242R|DMTF1_ENST00000432937.2_Missense_Mutation_p.H154R|DMTF1_ENST00000413276.2_Missense_Mutation_p.H242R	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	242	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 1. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CGGATAAAGCATGGCAATGAC	0.433																																						uc003uih.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(724-726)cAt>cGt		Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.							118.0	110.0	113.0					7																	86811558		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86811558A>G	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.725A>G	7.37:g.86811558A>G	ENSP00000378193:p.His242Arg					DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Missense_Mutation_p.H154R|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.H242R|DMTF1_uc003uin.3_5'UTR	p.H242R	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN			9	1051	+	Esophageal squamous(14;0.0058)		242			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.725A>G	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.554880	0.86231	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.76	5.76	0.90799	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);MYB-like (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.71017	-0.4714	10	0.72032	D	0.01	-15.2339	15.5592	0.76229	1.0:0.0:0.0:0.0	.	242	Q9Y222	DMTF1_HUMAN	R	242;242;154;242	ENSP00000332171:H242R;ENSP00000402627:H242R;ENSP00000412532:H154R;ENSP00000378193:H242R	ENSP00000332171:H242R	H	+	2	0	DMTF1	86649494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.323000	0.78572	0.528000	0.53228	CAT		0.433	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145	
TRPV5	56302	broad.mit.edu	37	7	142605705	142605705	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:142605705T>C	ENST00000265310.1	-	15	2513	c.2165A>G	c.(2164-2166)gAt>gGt	p.D722G		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	722	Involved in Ca(2+)-dependent inactivation. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTCTCCATCCCCCTCACT	0.567																																						uc003wby.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(2164-2166)gAt>gGt		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.							111.0	106.0	108.0					7																	142605705		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605705T>C	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2165A>G	7.37:g.142605705T>C	ENSP00000265310:p.Asp722Gly						p.D722G	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			14	2429	-	Melanoma(164;0.059)		722			Involved in Ca(2+)-dependent inactivation (By similarity).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.2165A>G	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	T	9.181	1.023601	0.19433	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.80566	-1.39;-1.39	4.99	4.99	0.66335	.	0.311301	0.31989	N	0.006744	T	0.74794	0.3763	L	0.60455	1.87	0.45354	D	0.998345	B	0.12630	0.006	B	0.08055	0.003	T	0.72250	-0.4348	10	0.51188	T	0.08	-15.0022	8.1594	0.31190	0.1917:0.0:0.0:0.8083	.	722	Q9NQA5	TRPV5_HUMAN	G	722;667	ENSP00000265310:D722G;ENSP00000406361:D667G	ENSP00000265310:D722G	D	-	2	0	TRPV5	142315827	0.933000	0.31639	0.795000	0.32087	0.049000	0.14656	2.797000	0.47877	2.113000	0.64589	0.533000	0.62120	GAT		0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
PTK2B	2185	broad.mit.edu	37	8	27296903	27296903	+	Missense_Mutation	SNP	G	G	A	rs370995513		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:27296903G>A	ENST00000397501.1	+	25	2630	c.1822G>A	c.(1822-1824)Gtc>Atc	p.V608I	PTK2B_ENST00000346049.5_Missense_Mutation_p.V608I|PTK2B_ENST00000397497.4_Missense_Mutation_p.V354I|PTK2B_ENST00000420218.2_Missense_Mutation_p.V608I|PTK2B_ENST00000544172.1_Missense_Mutation_p.V608I|PTK2B_ENST00000517339.1_Missense_Mutation_p.V608I|PTK2B_ENST00000338238.4_Missense_Mutation_p.V608I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	608	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AGCCAGTGACGTCTGGATGTT	0.547																																						uc003xfn.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1822-1824)Gtc>Atc		Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	84.0	76.0	79.0		1822,1822,1822,1822	4.9	0.9	8		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTK2B	NM_004103.4,NM_173174.2,NM_173175.2,NM_173176.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	608/1010,608/1010,608/968,608/1010	27296903	1,13005	2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27296903G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1822G>A	8.37:g.27296903G>A	ENSP00000380638:p.Val608Ile					PTK2B_uc022ate.1_Missense_Mutation_p.V608I|PTK2B_uc003xfp.2_Missense_Mutation_p.V608I|PTK2B_uc003xfq.2_Missense_Mutation_p.V608I|PTK2B_uc003xfr.1_Missense_Mutation_p.V354I	p.V608I	NM_173174	NP_775268	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	24	2630	+		Ovarian(32;2.72e-05)	608			Protein kinase.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1822G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660944	0.88154	0.0	1.16E-4	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.79	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.053146	0.85682	N	0.000000	D	0.91212	0.7231	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.99;0.924	D	0.91797	0.5448	10	0.87932	D	0	.	12.6064	0.56525	0.0798:0.0:0.9202:0.0	.	354;608;608	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	I	608;613;608;608;608;608;608;354	ENSP00000380638:V608I;ENSP00000342242:V608I;ENSP00000440926:V608I;ENSP00000332816:V608I;ENSP00000391995:V608I;ENSP00000427931:V608I;ENSP00000380634:V354I	ENSP00000342242:V608I	V	+	1	0	PTK2B	27352820	1.000000	0.71417	0.945000	0.38365	0.724000	0.41520	9.869000	0.99810	1.457000	0.47850	0.655000	0.94253	GTC		0.547	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103	
GEM	2669	broad.mit.edu	37	8	95264452	95264452	+	Splice_Site	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:95264452C>T	ENST00000297596.2	-	4	673		c.e4-1		GEM_ENST00000396194.2_Splice_Site	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle						cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTTTCCCCCTAATGAAACA	0.453																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygi.3																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.e4-1		Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.							54.0	51.0	52.0					8																	95264452		2203	4300	6503	SO:0001630	splice_region_variant	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95264452C>T		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.409-1G>A	8.37:g.95264452C>T						GEM_uc003ygj.3_Splice_Site_p.G137_splice	p.G137_splice	NM_181702	NP_859053	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	533	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	137					B2RA31	Splice_Site	SNP	ENST00000297596.2	37	c.409_splice	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271888	0.59649	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2434	0.82429	0.0:0.8682:0.1318:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GEM	95333628	1.000000	0.71417	0.999000	0.59377	0.588000	0.36517	7.499000	0.81566	2.937000	0.99478	0.650000	0.86243	.		0.453	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	Intron
ZFAT	57623	broad.mit.edu	37	8	135613849	135613849	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:135613849C>T	ENST00000377838.3	-	6	2287	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	ZFAT_ENST00000520214.1_Missense_Mutation_p.A693T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A693T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A643T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Missense_Mutation_p.A693T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A693T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	705					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTCAGGGGCAGCTTTGCAA	0.557																																						uc003yup.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2113-2115)Gcc>Acc		Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.							94.0	97.0	96.0					8																	135613849		2064	4211	6275	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135613849C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2113G>A	8.37:g.135613849C>T	ENSP00000367069:p.Ala705Thr					ZFAT_uc003yun.3_Missense_Mutation_p.A693T|ZFAT_uc003yuo.3_Missense_Mutation_p.A693T|ZFAT_uc010meh.3_Missense_Mutation_p.A693T|ZFAT_uc010mej.3_Missense_Mutation_p.A643T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.A693T|ZFAT_uc003yur.3_Missense_Mutation_p.A693T	p.A705T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		5	2299	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		705					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2113G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	8.653	0.898689	0.17686	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.09163	3.09;3.01;3.02;3.01;3.01;3.03	5.41	-0.27	0.12926	.	1.161830	0.06122	N	0.669023	T	0.08044	0.0201	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.20887	0.004;0.049;0.002;0.001	B;B;B;B	0.22386	0.002;0.039;0.007;0.001	T	0.42783	-0.9431	10	0.23891	T	0.37	-4.2953	2.4665	0.04554	0.3843:0.358:0.1042:0.1535	.	643;693;693;705	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	T	693;693;693;705;693;592;643;693	ENSP00000427879:A693T;ENSP00000427831:A693T;ENSP00000394501:A693T;ENSP00000367069:A705T;ENSP00000428483:A693T;ENSP00000429091:A643T	ENSP00000326997:A592T	A	-	1	0	ZFAT	135683031	0.000000	0.05858	0.002000	0.10522	0.705000	0.40729	-1.563000	0.02154	0.071000	0.16664	0.561000	0.74099	GCC		0.557	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
DOCK8	81704	broad.mit.edu	37	9	439344	439344	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:439344G>A	ENST00000453981.1	+	40	5291	c.5179G>A	c.(5179-5181)Ggc>Agc	p.G1727S	DOCK8_ENST00000432829.2_Missense_Mutation_p.G1659S|DOCK8_ENST00000469391.1_Missense_Mutation_p.G1627S|DOCK8_ENST00000382329.1_Missense_Mutation_p.G1194S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1727	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CACCGAGAGTGGCCTGGTAGG	0.622																																						uc003zgf.2																			0		p.Y1726H(1)|p.Y1726F(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5179-5181)Ggc>Agc		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							69.0	64.0	66.0					9																	439344		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:439344G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5179G>A	9.37:g.439344G>A	ENSP00000408464:p.Gly1727Ser					DOCK8_uc022bcu.1_Missense_Mutation_p.G1659S|DOCK8_uc010mgv.3_Missense_Mutation_p.G1627S|DOCK8_uc010mgu.3_Missense_Mutation_p.G1029S|DOCK8_uc003zgk.2_Missense_Mutation_p.G1185S	p.G1727S	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	39	5291	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1727			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5179G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	35	5.435525	0.96150	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.18960	2.41;2.41;2.4;2.18	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.56463	-0.7975	10	0.17369	T	0.5	.	18.2944	0.90140	0.0:0.0:1.0:0.0	.	1627;1194;1727	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	1727;1695;1659;1627;1194	ENSP00000408464:G1727S;ENSP00000394888:G1659S;ENSP00000419438:G1627S;ENSP00000371766:G1194S	ENSP00000287364:G1695S	G	+	1	0	DOCK8	429344	1.000000	0.71417	0.989000	0.46669	0.875000	0.50365	9.150000	0.94667	2.543000	0.85770	0.655000	0.94253	GGC		0.622	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
COL15A1	1306	broad.mit.edu	37	9	101788194	101788194	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:101788194G>A	ENST00000375001.3	+	16	2412	c.1989G>A	c.(1987-1989)gaG>gaA	p.E663E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	663	Collagen-like 1.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.E663D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGCCCTGAGGGACAGCCTG	0.582																																						uc004azb.1																			1	Substitution - Missense(1)	p.E663D(2)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1987-1989)gaG>gaA		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							75.0	66.0	69.0					9																	101788194		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101788194G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1989G>A	9.37:g.101788194G>A							p.E663E	NM_001855	NP_001846	P39059	COFA1_HUMAN			15	2195	+		Acute lymphoblastic leukemia(62;0.0562)	663			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1989G>A	CCDS35081.1																																																																																				0.582	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
ABCA1	19	broad.mit.edu	37	9	107555100	107555100	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:107555100C>G	ENST00000374736.3	-	42	6118	c.5724G>C	c.(5722-5724)caG>caC	p.Q1908H		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1908					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGATGTCATTCTGGCCTCCAC	0.423																																						uc004bcl.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5722-5724)caG>caC		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						144.0	126.0	132.0					9																	107555100		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107555100C>G	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5724G>C	9.37:g.107555100C>G	ENSP00000363868:p.Gln1908His						p.Q1908H	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	41	6128	-			1908					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5724G>C	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954636	0.53293	.	.	ENSG00000165029	ENST00000374736	D	0.88818	-2.43	5.9	5.9	0.94986	.	0.167803	0.53938	D	0.000043	T	0.80894	0.4711	N	0.14661	0.345	0.80722	D	1	B	0.13145	0.007	B	0.13407	0.009	T	0.75614	-0.3257	10	0.49607	T	0.09	.	14.1199	0.65180	0.0:0.9277:0.0:0.0723	.	1908	O95477	ABCA1_HUMAN	H	1908	ENSP00000363868:Q1908H	ENSP00000363868:Q1908H	Q	-	3	2	ABCA1	106594921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.025000	0.41059	2.806000	0.96561	0.655000	0.94253	CAG		0.423	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
GBGT1	26301	broad.mit.edu	37	9	136031442	136031442	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:136031442G>T	ENST00000372040.3	-	4	459	c.148C>A	c.(148-150)Ctg>Atg	p.L50M	GBGT1_ENST00000540636.1_Intron|RALGDS_ENST00000542690.1_Missense_Mutation_p.A62D|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.A62D|GBGT1_ENST00000372043.3_Missense_Mutation_p.L50M	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	50					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		TTGTAGTGCAGCTTCATGTTG	0.567																																						uc011mcw.2										T					CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(184-186)gCt>gAt		Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA.							129.0	105.0	114.0					9																	136031442		2202	4300	6502	SO:0001583	missense	26301				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136031442G>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.148C>A	9.37:g.136031442G>T	ENSP00000361110:p.Leu50Met					RALGDS_uc010nab.3_Missense_Mutation_p.L50M|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Missense_Mutation_p.L50M|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Missense_Mutation_p.L50M	p.A62D	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	3	466	-			0					A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.185C>A	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.087269|3.087269	0.55968|0.55968	.|.	.|.	ENSG00000160271;ENSG00000148288|ENSG00000148288	ENST00000542690;ENST00000372038|ENST00000372043;ENST00000372040	T;T|T;T	0.38401|0.01287	1.69;1.14|5.05;5.05	4.94|4.94	4.03|4.03	0.46877|0.46877	.|.	.|0.125962	.|0.34986	.|N	.|0.003525	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	P|D;D	0.44429|0.89917	0.835|1.0;0.999	B|D;D	0.43728|0.91635	0.429|0.999;0.999	T|T	0.65512|0.65512	-0.6150|-0.6150	9|10	0.44086|0.36615	T|T	0.13|0.2	-23.9918|-23.9918	11.2217|11.2217	0.48860|0.48860	0.0925:0.0:0.9075:0.0|0.0925:0.0:0.9075:0.0	.|.	62|50;50	F5H6M6|Q8N5D6-2;Q8N5D6	.|.;GBGT1_HUMAN	D|M	62|50	ENSP00000437518:A62D;ENSP00000361108:A62D|ENSP00000361113:L50M;ENSP00000361110:L50M	ENSP00000361108:A62D|ENSP00000361110:L50M	A|L	-|-	2|1	0|2	GBGT1;RALGDS|GBGT1	135021263|135021263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.710000|0.710000	0.40934|0.40934	3.455000|3.455000	0.52993|0.52993	2.432000|2.432000	0.82394|0.82394	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.567	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996	
TUBBP5	643224	broad.mit.edu	37	9	141071076	141071076	+	RNA	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:141071076C>T	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5																		GTGTCTGCTACCATGAGTGGG	0.557																																						uc010ncq.3																			0													Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141071076C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071076C>T														4		+									Missense_Mutation	SNP	ENST00000503395.1	37																																																																																						0.557	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
TUBBP5	643224	broad.mit.edu	37	9	141071097	141071097	+	RNA	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:141071097G>A	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5																		GTCACCACGTGCCTGCGCTTC	0.577																																						uc010ncq.3																			0													Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141071097G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071097G>A														4		+									Missense_Mutation	SNP	ENST00000503395.1	37																																																																																						0.577	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	RNA	SNP	A	A	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:141071110A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597																																						uc010ncq.3																			7	Substitution - coding silent(7)	p.P243P(7)	kidney(3)|prostate(2)|endometrium(2)										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141071110A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071110A>G														4		+									Silent	SNP	ENST00000503395.1	37																																																																																						0.597	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
GRPR	2925	broad.mit.edu	37	X	16142166	16142166	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:16142166G>A	ENST00000380289.2	+	1	488	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	30					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ATCTCCCCGTGAACGATGACT	0.478											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cxj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(88-90)gtG>gtA		Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.							195.0	179.0	185.0					X																	16142166		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142166G>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.90G>A	X.37:g.16142166G>A			OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.V30V	NM_005314	NP_005305	P30550	GRPR_HUMAN			0	743	+	Hepatocellular(33;0.183)		30					B2R910	Silent	SNP	ENST00000380289.2	37	c.90G>A	CCDS14174.1																																																																																				0.478	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314	
FOXR2	139628	broad.mit.edu	37	X	55650332	55650332	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:55650332G>C	ENST00000339140.3	+	1	500	c.188G>C	c.(187-189)aGg>aCg	p.R63T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	63					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCAGAAGAGGAGACCCAGT	0.537																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(187-189)aGg>aCg		Homo sapiens forkhead box R2 (FOXR2), mRNA.							91.0	82.0	85.0					X																	55650332		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650332G>C	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.188G>C	X.37:g.55650332G>C	ENSP00000427329:p.Arg63Thr						p.R63T	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	500	+			63						Missense_Mutation	SNP	ENST00000339140.3	37	c.188G>C	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	G	5.863	0.343321	0.11069	.	.	ENSG00000189299	ENST00000339140	D	0.94537	-3.45	3.56	-2.1	0.07210	.	20.786600	0.00166	U	0.000005	D	0.89949	0.6863	L	0.40543	1.245	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.75614	-0.3257	10	0.49607	T	0.09	.	2.6927	0.05125	0.3895:0.0:0.2554:0.3551	.	63	Q6PJQ5	FOXR2_HUMAN	T	63	ENSP00000427329:R63T	ENSP00000427329:R63T	R	+	2	0	FOXR2	55667057	0.045000	0.20229	0.000000	0.03702	0.001000	0.01503	0.430000	0.21428	-0.675000	0.05246	-1.168000	0.01747	AGG		0.537	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451	
MAGEA5	4104	broad.mit.edu	37	X	151283896	151283896	+	RNA	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:151283896C>T	ENST00000509345.2	-	0	440																											AGGAGGAGGACACAGCCTCCT	0.647																																						uc004ffj.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(115-117)gtG>gtA		Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.							49.0	49.0	49.0					X																	151283896		2203	4300	6503			4104							g.chrX:151283896C>T																													X.37:g.151283896C>T						MAGEA5_uc022cgy.1_Silent_p.V39V	p.V39V	NM_021049	NP_066387	P43359	MAGA5_HUMAN			2	289	-	Acute lymphoblastic leukemia(192;6.56e-05)		39			MAGE.			Silent	SNP	ENST00000509345.2	37	c.117G>A																																																																																					0.647	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1		
OPN1MW2	728458	broad.mit.edu	37	X	153490645	153490645	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:153490645C>T	ENST00000369929.4	+	2	441	c.381C>T	c.(379-381)gtC>gtT	p.V127V	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	127					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTATGTGTGTCCTGGAGGGCT	0.617																																						uc004fkd.3																			0				endometrium(1)|lung(1)	2						c.(379-381)gtC>gtT		Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.							72.0	42.0	53.0					X																	153490645		2004	3544	5548	SO:0001819	synonymous_variant	2652				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153490645C>T		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.381C>T	X.37:g.153490645C>T							p.V127V	NM_000513	NP_001041646	P04001	OPSG_HUMAN			1	463	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		127						Silent	SNP	ENST00000369929.4	37	c.381C>T	CCDS35447.1																																																																																				0.617	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181	
