#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARHGAP32	9743	broad.mit.edu	37	11	128839036	128839036	+	Silent	SNP	G	G	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr11:128839036G>A	ENST00000310343.9	-	22	6029	c.6030C>T	c.(6028-6030)caC>caT	p.H2010H	ARHGAP32_ENST00000527272.1_Silent_p.H1661H|ARHGAP32_ENST00000392657.3_Silent_p.H1661H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2010	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCGCTTGCCGTGTGGTTGGT	0.567																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(6028-6030)caC>caT		Rho GTPase activating protein 32							128.0	108.0	115.0					11																	128839036		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839036G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6030C>T	11.37:g.128839036G>A						ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.H1661H|ARHGAP32_ENST00000527272.1_Silent_p.H1661H	p.H2010H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	6029	-			2010			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.6030C>T	CCDS44769.1																																																																																				0.567	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		3	70	0	0	0	1	0	3	70				
MYH2	4620	broad.mit.edu	37	17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:10429940C>T	ENST00000245503.5	-	30	4547	c.4163G>A	c.(4162-4164)cGc>cAc	p.R1388H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1388					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1388H(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCTGTGCGCTGGATGGC	0.512																																						ENST00000245503.5																			2	Substitution - Missense(2)	p.R1388H(2)	ovary(1)|kidney(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4162-4164)cGc>cAc		myosin, heavy chain 2, skeletal muscle, adult							175.0	162.0	166.0					17																	10429940		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429940C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4163G>A	17.37:g.10429940C>T	ENSP00000245503:p.Arg1388His					CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H	p.R1388H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			30	4547	-			1388					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4163G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504663	0.96371	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80480	-1.38;-1.38	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.91402	0.7287	M	0.89030	3	0.58432	D	0.999997	D	0.89917	1.0	D	0.74023	0.982	D	0.92664	0.6144	10	0.87932	D	0	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	1388	Q9UKX2	MYH2_HUMAN	H	1388	ENSP00000245503:R1388H;ENSP00000380367:R1388H	ENSP00000245503:R1388H	R	-	2	0	MYH2	10370665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.703000	0.92315	0.655000	0.94253	CGC		0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		52	145	0	0	0	1	0	52	145				
UBAP1	51271	broad.mit.edu	37	9	34250662	34250662	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr9:34250662G>T	ENST00000297661.4	+	6	1508	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	UBAP1_ENST00000359544.2_Missense_Mutation_p.D425Y|UBAP1_ENST00000536252.1_Missense_Mutation_p.D425Y|UBAP1_ENST00000540348.1_Missense_Mutation_p.D425Y|UBAP1_ENST00000543944.1_Missense_Mutation_p.D461Y|UBAP1_ENST00000545103.1_Missense_Mutation_p.D489Y|UBAP1_ENST00000379186.4_Missense_Mutation_p.D364Y	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	425	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TTAGATTCTCGACTATCTCTT	0.468																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(1273-1275)Gac>Tac		ubiquitin associated protein 1							137.0	122.0	127.0					9																	34250662		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34250662G>T	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1273G>T	9.37:g.34250662G>T	ENSP00000297661:p.Asp425Tyr					UBAP1_ENST00000545103.1_Missense_Mutation_p.D489Y|UBAP1_ENST00000379186.4_Missense_Mutation_p.D364Y|UBAP1_ENST00000359544.2_Missense_Mutation_p.D425Y|UBAP1_ENST00000297661.4_Missense_Mutation_p.D425Y|UBAP1_ENST00000543944.1_Missense_Mutation_p.D461Y|UBAP1_ENST00000540348.1_Missense_Mutation_p.D425Y	p.D425Y	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		7	1671	+			425			UBA 1.		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.1273G>T	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930352	0.92389	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.56611	0.46;0.45;0.52;0.52;0.52;0.94;0.52	6.17	6.17	0.99709	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.048477	0.85682	D	0.000000	T	0.69869	0.3159	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.986;0.997;0.988	T	0.68800	-0.5313	10	0.87932	D	0	-3.6972	20.8794	0.99867	0.0:0.0:1.0:0.0	.	489;461;489;425	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	Y	489;461;425;425;425;364;425	ENSP00000441024:D489Y;ENSP00000439806:D461Y;ENSP00000440456:D425Y;ENSP00000439976:D425Y;ENSP00000297661:D425Y;ENSP00000368484:D364Y;ENSP00000352541:D425Y	ENSP00000297661:D425Y	D	+	1	0	UBAP1	34240662	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.162000	0.94745	2.941000	0.99782	0.655000	0.94253	GAC		0.468	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			19	31	1	0	4.35082e-09	1	4.90861e-09	19	31				
ANPEP	290	broad.mit.edu	37	15	90342683	90342683	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr15:90342683G>T	ENST00000300060.6	-	13	2240	c.1927C>A	c.(1927-1929)Cag>Aag	p.Q643K	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	643	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	AGCTGAGTCTGAATCTTCCTC	0.592																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1927-1929)Cag>Aag		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						139.0	127.0	131.0					15																	90342683		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90342683G>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1927C>A	15.37:g.90342683G>T	ENSP00000300060:p.Gln643Lys					ANPEP_ENST00000558177.1_5'UTR	p.Q643K	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		13	2240	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		643			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.1927C>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.036002	0.35893	.	.	ENSG00000166825	ENST00000300060	T	0.05025	3.51	5.07	5.07	0.68467	.	0.394448	0.26207	N	0.025717	T	0.08358	0.0208	L	0.45698	1.435	0.31734	N	0.636625	B	0.26672	0.156	B	0.36030	0.216	T	0.08027	-1.0742	10	0.05620	T	0.96	.	15.1734	0.72894	0.0:0.0:1.0:0.0	.	643	P15144	AMPN_HUMAN	K	643	ENSP00000300060:Q643K	ENSP00000300060:Q643K	Q	-	1	0	ANPEP	88143687	1.000000	0.71417	0.974000	0.42286	0.638000	0.38207	3.075000	0.50073	2.368000	0.80403	0.563000	0.77884	CAG		0.592	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			3	59	1	0	1	1	1	3	59				
ATP2B3	492	broad.mit.edu	37	X	152826160	152826160	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:152826160G>A	ENST00000349466.2	+	18	3192	c.2866G>A	c.(2866-2868)Ggg>Agg	p.G956R	ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G942R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G956R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G956R|ATP2B3_ENST00000370186.1_Missense_Mutation_p.G942R|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G942R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	956					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGACAGCGGGAGGAATGC	0.552																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2824-2826)Ggg>Agg		ATPase, Ca++ transporting, plasma membrane 3							175.0	136.0	149.0					X																	152826160		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152826160G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2866G>A	X.37:g.152826160G>A	ENSP00000343886:p.Gly956Arg					ATP2B3_ENST00000263519.4_Missense_Mutation_p.G956R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G956R|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G942R|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G942R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G956R	p.G942R			Q16720	AT2B3_HUMAN			17	3150	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		956					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2824G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502238	0.64298	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	4.99	4.99	0.66335	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74348	0.943;0.983	D	0.99104	1.0844	10	0.72032	D	0.01	-32.1281	16.1261	0.81397	0.0:0.0:1.0:0.0	.	956;956	Q16720;Q16720-2	AT2B3_HUMAN;.	R	942;956;942;956;956;942	ENSP00000359205:G942R;ENSP00000343886:G956R;ENSP00000377425:G942R;ENSP00000352062:G956R;ENSP00000263519:G956R;ENSP00000359200:G942R	ENSP00000263519:G956R	G	+	1	0	ATP2B3	152479354	1.000000	0.71417	0.416000	0.26546	0.134000	0.20937	9.843000	0.99491	2.057000	0.61298	0.519000	0.50382	GGG		0.552	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		3	73	0	0	0	1	0	3	73				
LOC440040	440040	broad.mit.edu	37	11	49831711	49831711	+	RNA	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr11:49831711A>G	ENST00000527477.1	+	0	1936																											GTTGATGTTAATCAAAGCTCC	0.448																																						ENST00000527477.1																			0																																																			0							g.chr11:49831711A>G																													11.37:g.49831711A>G														0	1936	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.448	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			14	112	0	0	0	1	0	14	112				
ZZEF1	23140	broad.mit.edu	37	17	3970464	3970464	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:3970464A>G	ENST00000381638.2	-	27	4272	c.4148T>C	c.(4147-4149)aTa>aCa	p.I1383T		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1383							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TACCATCCATATTCGAATCCC	0.393																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4147-4149)aTa>aCa		zinc finger, ZZ-type with EF-hand domain 1							87.0	78.0	81.0					17																	3970464		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3970464A>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4148T>C	17.37:g.3970464A>G	ENSP00000371051:p.Ile1383Thr						p.I1383T	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			27	4272	-			1383					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4148T>C	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136530	0.37728	.	.	ENSG00000074755	ENST00000381638	T	0.20200	2.09	5.21	5.21	0.72293	.	0.158271	0.56097	D	0.000023	T	0.17023	0.0409	L	0.29908	0.895	0.41730	D	0.989557	B	0.09022	0.002	B	0.08055	0.003	T	0.04915	-1.0918	10	0.25106	T	0.35	-11.9543	15.39	0.74735	1.0:0.0:0.0:0.0	.	1383	O43149	ZZEF1_HUMAN	T	1383	ENSP00000371051:I1383T	ENSP00000371051:I1383T	I	-	2	0	ZZEF1	3917213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.673000	0.74482	2.103000	0.63969	0.533000	0.62120	ATA		0.393	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		3	42	0	0	0	1	0	3	42				
PLCH1	23007	broad.mit.edu	37	3	155200712	155200712	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr3:155200712T>C	ENST00000340059.7	-	23	3126	c.3127A>G	c.(3127-3129)Att>Gtt	p.I1043V	PLCH1_ENST00000460012.1_Missense_Mutation_p.I1005V|PLCH1_ENST00000414191.1_Missense_Mutation_p.I1005V|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.I1005V|PLCH1_ENST00000494598.1_Intron|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1043					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTAGATACAATGGTGTCCCCT	0.458																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3013-3015)Att>Gtt		phospholipase C, eta 1							162.0	157.0	159.0					3																	155200712		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200712T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3127A>G	3.37:g.155200712T>C	ENSP00000345988:p.Ile1043Val					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.I1043V|PLCH1_ENST00000334686.6_Missense_Mutation_p.I1005V|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.I1005V	p.I1005V			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3370	-			1043					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3013A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	0.082	-1.182040	0.01633	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	4.97	-8.05	0.01106	.	2.504400	0.01205	N	0.007680	T	0.06508	0.0167	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22277	-1.0221	10	0.22706	T	0.39	.	3.5801	0.07949	0.1111:0.4562:0.2227:0.21	.	1005;1043	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	V	1005;1043;1005;1005	ENSP00000417502:I1005V;ENSP00000345988:I1043V;ENSP00000335469:I1005V;ENSP00000412977:I1005V	ENSP00000335469:I1005V	I	-	1	0	PLCH1	156683406	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.839000	0.01686	-1.504000	0.01810	-1.139000	0.01908	ATT		0.458	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		31	57	0	0	0	1	0	31	57				
COBLL1	22837	broad.mit.edu	37	2	165550871	165550871	+	Missense_Mutation	SNP	C	C	A	rs189417090		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:165550871C>A	ENST00000392717.2	-	13	3263	c.3259G>T	c.(3259-3261)Gca>Tca	p.A1087S	COBLL1_ENST00000409184.3_Missense_Mutation_p.A1049S|COBLL1_ENST00000194871.6_Missense_Mutation_p.A1116S|COBLL1_ENST00000342193.4_Missense_Mutation_p.A1049S|COBLL1_ENST00000375458.2_Missense_Mutation_p.A1011S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1087						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGACCAATGCACTGGCACTA	0.473																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(3031-3033)Gca>Tca		cordon-bleu WH2 repeat protein-like 1							116.0	106.0	109.0					2																	165550871		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165550871C>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3259G>T	2.37:g.165550871C>A	ENSP00000376478:p.Ala1087Ser					COBLL1_ENST00000342193.4_Missense_Mutation_p.A1049S|COBLL1_ENST00000194871.6_Missense_Mutation_p.A1116S|COBLL1_ENST00000409184.3_Missense_Mutation_p.A1049S|COBLL1_ENST00000392717.2_Missense_Mutation_p.A1087S	p.A1011S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	3252	-			1087					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.3031G>T		.	.	.	.	.	.	.	.	.	.	C	8.555	0.876405	0.17395	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.71	-0.228	0.13098	.	0.770143	0.11985	N	0.510409	T	0.15739	0.0379	N	0.13043	0.29	0.09310	N	1	B;B;B	0.22211	0.04;0.04;0.066	B;B;B	0.23150	0.022;0.022;0.044	T	0.26573	-1.0099	9	0.15952	T	0.53	0.0318	2.3611	0.04307	0.1183:0.3938:0.124:0.3638	.	1087;1116;1049	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	1011;1049;1049;1087;1116	.	ENSP00000194871:A1116S	A	-	1	0	COBLL1	165259117	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.632000	0.24583	0.034000	0.15491	0.655000	0.94253	GCA		0.473	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		4	52	1	0	0.00909568	1	0.00930721	4	52				
PKHD1L1	93035	broad.mit.edu	37	8	110408325	110408325	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:110408325T>C	ENST00000378402.5	+	11	985	c.881T>C	c.(880-882)tTc>tCc	p.F294S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	294	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGGGCGTTTCTTTGATCAG	0.403										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(880-882)tTc>tCc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							75.0	67.0	70.0					8																	110408325		1993	4188	6181	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110408325T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.881T>C	8.37:g.110408325T>C	ENSP00000367655:p.Phe294Ser	HNSCC(38;0.096)					p.F294S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		11	985	+			294			IPT/TIG 3.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.881T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	9.531	1.110752	0.20714	.	.	ENSG00000205038	ENST00000378402	T	0.75477	-0.94	5.81	5.81	0.92471	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.130830	0.51477	D	0.000093	T	0.67869	0.2939	L	0.56396	1.775	0.29445	N	0.858904	P	0.36086	0.536	B	0.37550	0.253	T	0.63260	-0.6677	10	0.16420	T	0.52	.	9.4245	0.38572	0.1584:0.0:0.0:0.8416	.	294	Q86WI1	PKHL1_HUMAN	S	294	ENSP00000367655:F294S	ENSP00000367655:F294S	F	+	2	0	PKHD1L1	110477501	1.000000	0.71417	0.994000	0.49952	0.400000	0.30750	2.154000	0.42291	2.225000	0.72522	0.533000	0.62120	TTC		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		9	13	0	0	0	1	0	9	13				
PRDM9	56979	broad.mit.edu	37	5	23526872	23526872	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:23526872C>T	ENST00000296682.3	+	11	1857	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	559					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R559R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.527										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - coding silent(1)	p.R559R(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1675-1677)Cgg>Tgg		PR domain containing 9							78.0	85.0	83.0					5																	23526872		2180	4294	6474	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526872C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1675C>T	5.37:g.23526872C>T	ENSP00000296682:p.Arg559Trp	HNSCC(3;0.000094)					p.R559W	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1857	+			559					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1675C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759569	0.31137	.	.	ENSG00000164256	ENST00000296682	T	0.08008	3.14	2.47	0.517	0.17025	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10981	0.0268	M	0.81614	2.55	0.27013	N	0.964633	P	0.34662	0.462	B	0.33750	0.169	T	0.21827	-1.0234	9	0.87932	D	0	-0.1566	3.3188	0.07043	0.4483:0.4094:0.0:0.1423	.	559	Q9NQV7	PRDM9_HUMAN	W	559	ENSP00000296682:R559W	ENSP00000296682:R559W	R	+	1	2	PRDM9	23562629	0.000000	0.05858	0.865000	0.33974	0.273000	0.26683	-0.332000	0.07904	0.095000	0.17434	0.400000	0.26472	CGG		0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		28	72	0	0	0	1	0	28	72				
EPPK1	83481	broad.mit.edu	37	8	144941387	144941387	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:144941387G>T	ENST00000525985.1	-	2	6106	c.6035C>A	c.(6034-6036)gCc>gAc	p.A2012D				P58107	EPIPL_HUMAN	epiplakin 1	2012						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCCCGTGGCCACCTGCAC	0.627																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6034-6036)gCc>gAc		epiplakin 1							40.0	45.0	43.0					8																	144941387		2148	4254	6402	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941387G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6035C>A	8.37:g.144941387G>T	ENSP00000436337:p.Ala2012Asp						p.A2012D			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6106	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2012					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6035C>A		.	.	.	.	.	.	.	.	.	.	G	18.63	3.664692	0.67700	.	.	ENSG00000227184	ENST00000525985	T	0.79653	-1.29	4.68	4.68	0.58851	.	.	.	.	.	D	0.89104	0.6620	M	0.85197	2.74	0.47737	D	0.999504	D	0.89917	1.0	D	0.85130	0.997	D	0.86872	0.2036	9	0.14252	T	0.57	.	15.1066	0.72326	0.0:0.0:1.0:0.0	.	2012	E9PPU0	.	D	2012	ENSP00000436337:A2012D	ENSP00000436337:A2012D	A	-	2	0	EPPK1	145013375	1.000000	0.71417	0.985000	0.45067	0.067000	0.16453	9.489000	0.97949	2.424000	0.82194	0.585000	0.79938	GCC		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		13	22	1	0	3.27435e-08	1	3.60179e-08	13	22				
KRT35	3886	broad.mit.edu	37	17	39633889	39633889	+	Silent	SNP	G	G	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:39633889G>A	ENST00000393989.1	-	6	1143	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A	KRT35_ENST00000246639.2_Silent_p.A337A	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	367	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A367A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCGGATCTCGGCCAGCTGGG	0.647																																						ENST00000246639.2																			2	Substitution - coding silent(2)	p.A367A(2)	prostate(1)|kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1009-1011)gcC>gcT		keratin 35							58.0	59.0	59.0					17																	39633889		2203	4300	6503	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39633889G>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1101C>T	17.37:g.39633889G>A						KRT35_ENST00000393989.1_Silent_p.A367A	p.A337A			Q92764	KRT35_HUMAN			6	1143	-		Breast(137;0.000286)	367			Coil 2.|Rod.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.1011C>T	CCDS11394.2																																																																																				0.647	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		3	82	0	0	0	1	0	3	82				
PRDM16	63976	broad.mit.edu	37	1	3342279	3342279	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr1:3342279G>A	ENST00000270722.5	+	13	3123	c.3074G>A	c.(3073-3075)cGg>cAg	p.R1025Q	PRDM16_ENST00000378391.2_Missense_Mutation_p.R1025Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.R1026Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.R1025Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.R1025Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1025	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AACCTGGACCGGCACCTCAAG	0.662			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(3073-3075)cGg>cAg		PR domain containing 16							71.0	81.0	78.0					1																	3342279		2122	4228	6350	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3342279G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3074G>A	1.37:g.3342279G>A	ENSP00000270722:p.Arg1025Gln					PRDM16_ENST00000511072.1_Missense_Mutation_p.R1026Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R1025Q|PRDM16_ENST00000270722.5_Missense_Mutation_p.R1025Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.R1025Q	p.R1025Q			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	14	3156	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	1025			Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.3074G>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970540	0.92919	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	U	0.000246	T	0.45438	0.1342	M	0.85197	2.74	0.58432	D	0.999998	D;D;P;D	0.89917	0.995;1.0;0.948;1.0	P;D;P;D	0.72075	0.485;0.976;0.536;0.946	T	0.52852	-0.8520	10	0.42905	T	0.14	.	16.1142	0.81289	0.0:0.0:1.0:0.0	.	1025;1025;1024;1024	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	1026;1025;1024;1024;1025;1025;1025;841;841;833	ENSP00000426975:R1026Q;ENSP00000367651:R1025Q;ENSP00000407968:R1024Q;ENSP00000405253:R1024Q;ENSP00000367643:R1025Q;ENSP00000421400:R1025Q;ENSP00000270722:R1025Q;ENSP00000422504:R841Q;ENSP00000425796:R833Q	ENSP00000270722:R1025Q	R	+	2	0	PRDM16	3332139	1.000000	0.71417	0.406000	0.26421	0.965000	0.64279	9.664000	0.98607	1.781000	0.52344	0.462000	0.41574	CGG		0.662	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		13	121	0	0	0	1	0	13	121				
TUBG1	7283	broad.mit.edu	37	17	40767042	40767042	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:40767042G>A	ENST00000251413.3	+	11	1401	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	447					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	CATCTCCTGGGGCACCCAGGA	0.582																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1339-1341)Ggc>Agc		tubulin, gamma 1							63.0	65.0	64.0					17																	40767042		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40767042G>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1339G>A	17.37:g.40767042G>A	ENSP00000251413:p.Gly447Ser						p.G447S	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	11	1401	+		Breast(137;0.00116)	447					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1339G>A	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894996	0.72639	.	.	ENSG00000131462	ENST00000251413	T	0.77750	-1.12	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.65498	2.005	0.80722	D	1	B	0.25351	0.124	B	0.21151	0.033	T	0.75036	-0.3459	10	0.44086	T	0.13	-15.8081	18.361	0.90374	0.0:0.0:1.0:0.0	.	447	P23258	TBG1_HUMAN	S	447	ENSP00000251413:G447S	ENSP00000251413:G447S	G	+	1	0	TUBG1	38020568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.837000	0.99465	2.339000	0.79563	0.563000	0.77884	GGC		0.582	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		4	36	0	0	0	1	0	4	36				
NR1H3	10062	broad.mit.edu	37	11	47281984	47281984	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr11:47281984A>G	ENST00000467728.1	+	3	1495	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000527949.1_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	86					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(256-258)aAg>aGg		nuclear receptor subfamily 1, group H, member 3							73.0	75.0	75.0					11																	47281984		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47281984A>G	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.257A>G	11.37:g.47281984A>G	ENSP00000420656:p.Lys86Arg					NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000527949.1_5'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000529540.1_3'UTR	p.K86R			Q13133	NR1H3_HUMAN			3	1495	+			86					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.257A>G	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924104	0.92319	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853	D;D;D;D;D;D;D;D;D;D;D;D	0.93659	-2.89;-3.2;-3.07;-2.47;-3.26;-2.62;-2.62;-2.47;-2.93;-2.48;-2.93;-3.26	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.94676	0.8283	L	0.36672	1.1	0.80722	D	1	P;D;D;D	0.89917	0.784;1.0;0.987;0.966	B;D;D;D	0.91635	0.41;0.999;0.913;0.953	D	0.95401	0.8490	10	0.72032	D	0.01	.	15.4324	0.75112	1.0:0.0:0.0:0.0	.	92;86;41;86	B4DXU5;Q13133;E9PLL4;Q13133-2	.;NR1H3_HUMAN;.;.	R	41;41;41;86;86;86;41;86;86;86;86;86	ENSP00000378793:K41R;ENSP00000385073:K41R;ENSP00000433271:K41R;ENSP00000403798:K86R;ENSP00000385801:K86R;ENSP00000391005:K86R;ENSP00000412636:K41R;ENSP00000415591:K86R;ENSP00000387946:K86R;ENSP00000403696:K86R;ENSP00000420656:K86R;ENSP00000384745:K86R	ENSP00000378793:K41R	K	+	2	0	NR1H3	47238560	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.935000	0.75886	2.098000	0.63641	0.379000	0.24179	AAG		0.567	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			3	49	0	0	0	1	0	3	49				
CCNB3	85417	broad.mit.edu	37	X	50055581	50055581	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:50055581T>A	ENST00000376042.1	+	7	3670	c.3372T>A	c.(3370-3372)agT>agA	p.S1124R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S1124R			Q8WWL7	CCNB3_HUMAN	cyclin B3	1124					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGATCCAAGTTTCAACCCAA	0.383																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3370-3372)agT>agA		cyclin B3							204.0	181.0	189.0					X																	50055581		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50055581T>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3372T>A	X.37:g.50055581T>A	ENSP00000365210:p.Ser1124Arg					CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S1124R|CCNB3_ENST00000348603.2_Intron	p.S1124R			Q8WWL7	CCNB3_HUMAN			7	3670	+	Ovarian(276;0.236)		1124					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.3372T>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978187	0.34942	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.16597	2.33;2.33	4.89	-0.878	0.10617	Cyclin-like (1);	1.511620	0.03481	N	0.215163	T	0.09905	0.0243	N	0.08118	0	0.09310	N	1	P;P	0.49783	0.928;0.843	P;P	0.45232	0.474;0.474	T	0.05533	-1.0879	9	.	.	.	.	3.5443	0.07823	0.2873:0.1692:0.0:0.5436	.	1124;1124	A8K8T9;Q8WWL7	.;CCNB3_HUMAN	R	1124	ENSP00000365210:S1124R;ENSP00000276014:S1124R	.	S	+	3	2	CCNB3	50072321	0.206000	0.23470	0.003000	0.11579	0.016000	0.09150	0.987000	0.29603	-0.602000	0.05775	0.339000	0.21740	AGT		0.383	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			19	117	0	0	0	1	0	19	117				
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	G	A	rs112126661		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:32725572G>A	ENST00000437316.2	-	4	798	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_ENST00000435145.2_Silent_p.I245I|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	249					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTGACGGATGATAAGGCCCA	0.557																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(733-735)atC>atT		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725572G>A	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.735C>T	6.37:g.32725572G>A						HLA-DQB2_ENST00000437316.2_Silent_p.I245I|HLA-DQB2_ENST00000411527.1_Intron	p.I245I			Q5SR06	Q5SR06_HUMAN			4	796	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.735C>T																																																																																					0.557	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	26	0	0	0	1	0	5	26				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr19:12155757C>A	ENST00000547628.1	-	4	596	c.459G>T	c.(457-459)agG>agT	p.R153S	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.R200S|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(598-600)agG>agT		zinc finger protein 878							139.0	150.0	146.0					19																	12155757		2165	4283	6448	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155757C>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.459G>T	19.37:g.12155757C>A	ENSP00000447931:p.Arg153Ser					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.10_ENST00000547473.1_Intron	p.R200S			C9JN71	ZN878_HUMAN			5	599	-			153						Missense_Mutation	SNP	ENST00000547628.1	37	c.600G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	c	0.119	-1.128634	0.01756	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.13901	2.55	1.25	-2.51	0.06365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.11427	0.14	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.39840	-0.9594	9	0.02654	T	1	.	3.7988	0.08750	0.3827:0.4258:0.0:0.1915	.	153	C9JN71	ZN878_HUMAN	S	153;200	ENSP00000447931:R153S	ENSP00000447931:R153S	R	-	3	2	AC022415.4;ZNF878	12016757	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-2.636000	0.00867	-1.408000	0.02040	0.299000	0.19835	AGG		0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		4	139	1	0	0.00024832	1	0.000260145	4	139				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	48	0	0	0	1	0	29	48				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		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.chr17:7577120C>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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	4	0	0	0	1	0	13	4				
HCN1	348980	broad.mit.edu	37	5	45262356	45262356	+	Silent	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:45262356G>T	ENST00000303230.4	-	8	2397	c.2340C>A	c.(2338-2340)acC>acA	p.T780T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	780					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTTCCCGGGTCAGGTTGG	0.632																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2338-2340)acC>acA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							73.0	70.0	71.0					5																	45262356		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262356G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2340C>A	5.37:g.45262356G>T							p.T780T	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2397	-			780						Silent	SNP	ENST00000303230.4	37	c.2340C>A	CCDS3952.1																																																																																				0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		19	32	1	0	4.35082e-09	1	4.90861e-09	19	32				
UNC5CL	222643	broad.mit.edu	37	6	40996311	40996311	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:40996311G>T	ENST00000373164.1	-	8	1418	c.1358C>A	c.(1357-1359)cCc>cAc	p.P453H	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.P453H			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	453	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCCGCTGCGGGGCTGCGCTG	0.672																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1357-1359)cCc>cAc		unc-5 homolog C (C. elegans)-like							41.0	42.0	42.0					6																	40996311		2193	4275	6468	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996311G>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1358C>A	6.37:g.40996311G>T	ENSP00000362258:p.Pro453His					UNC5CL_ENST00000373164.1_Missense_Mutation_p.P453H|UNC5CL_ENST00000470102.1_5'UTR	p.P453H	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			9	1446	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		453			Death.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1358C>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874456	0.72180	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.55052	0.54;0.54	4.53	4.53	0.55603	Death (3);DEATH-like (2);	0.000000	0.42294	D	0.000737	T	0.59280	0.2182	L	0.55213	1.73	0.47153	D	0.999339	D	0.89917	1.0	D	0.83275	0.996	T	0.64630	-0.6362	10	0.87932	D	0	-27.5248	12.7675	0.57401	0.0:0.0:1.0:0.0	.	453	Q8IV45	UN5CL_HUMAN	H	453	ENSP00000244565:P453H;ENSP00000362258:P453H	ENSP00000244565:P453H	P	-	2	0	UNC5CL	41104289	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	5.418000	0.66429	2.069000	0.61940	0.563000	0.77884	CCC		0.672	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		27	58	1	0	3.67414e-24	1	4.36925e-24	27	58				
TAS2R42	353164	broad.mit.edu	37	12	11339191	11339191	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr12:11339191A>G	ENST00000334266.1	-	1	352	c.353T>C	c.(352-354)cTt>cCt	p.L118P		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	118					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CCAGAGGAAAAGGGAGTGGGG	0.398																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(352-354)cTt>cCt		taste receptor, type 2, member 42							74.0	72.0	73.0					12																	11339191		2203	4300	6503	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11339191A>G	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.353T>C	12.37:g.11339191A>G	ENSP00000334050:p.Leu118Pro						p.L118P	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	352	-			118					A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.353T>C	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	A	7.511	0.654730	0.14580	.	.	ENSG00000186136	ENST00000334266	T	0.00922	5.54	3.7	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.402230	0.22509	N	0.059139	T	0.03390	0.0098	M	0.80982	2.52	0.23859	N	0.996649	P	0.51933	0.949	P	0.58331	0.837	T	0.22347	-1.0219	10	0.87932	D	0	.	5.7927	0.18369	0.8756:0.0:0.1244:0.0	.	118	Q7RTR8	T2R42_HUMAN	P	118	ENSP00000334050:L118P	ENSP00000334050:L118P	L	-	2	0	TAS2R42	11230458	0.961000	0.32948	0.168000	0.22838	0.003000	0.03518	2.646000	0.46630	0.623000	0.30267	-0.256000	0.11100	CTT		0.398	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		3	48	0	0	0	1	0	3	48				
ADAM28	10863	broad.mit.edu	37	8	24201057	24201057	+	Silent	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:24201057A>G	ENST00000265769.4	+	18	2060	c.1950A>G	c.(1948-1950)ggA>ggG	p.G650G	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G397G|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	650	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGAGGAAGGATGGATCCCTC	0.498																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1948-1950)ggA>ggG		ADAM metallopeptidase domain 28							190.0	147.0	161.0					8																	24201057		2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24201057A>G	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1950A>G	8.37:g.24201057A>G						ADAM28_ENST00000397649.3_Silent_p.G397G|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	p.G650G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	18	2060	+		Prostate(55;0.0959)	650			EGF-like.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1950A>G	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	A	8.047	0.765161	0.15914	.	.	ENSG00000042980	ENST00000521629;ENST00000518326	.	.	.	5.52	1.8	0.24995	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36114	-0.9761	4	.	.	.	.	4.9045	0.13791	0.4841:0.3404:0.1755:0.0	.	.	.	.	V	283;76	.	.	M	+	1	0	ADAM28	24257002	0.772000	0.28567	1.000000	0.80357	0.625000	0.37756	-0.243000	0.08915	0.124000	0.18369	0.533000	0.62120	ATG		0.498	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		23	47	0	0	0	1	0	23	47				
AK7	122481	broad.mit.edu	37	14	96944967	96944967	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr14:96944967T>C	ENST00000267584.4	+	15	1765	c.1721T>C	c.(1720-1722)tTt>tCt	p.F574S		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	574	Adenylate kinase.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTCAACTATTTTGATGAACTT	0.478																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1720-1722)tTt>tCt		adenylate kinase 7							74.0	63.0	67.0					14																	96944967		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96944967T>C	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1721T>C	14.37:g.96944967T>C	ENSP00000267584:p.Phe574Ser						p.F574S	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	15	1765	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	574					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.1721T>C	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628876	0.67015	.	.	ENSG00000140057	ENST00000267584	D	0.93488	-3.23	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97340	0.9956	10	0.87932	D	0	-23.0827	14.7411	0.69455	0.0:0.0:0.0:1.0	.	574	Q96M32	KAD7_HUMAN	S	574	ENSP00000267584:F574S	ENSP00000267584:F574S	F	+	2	0	AK7	96014720	1.000000	0.71417	0.424000	0.26647	0.419000	0.31324	7.714000	0.84703	1.889000	0.54706	0.391000	0.25812	TTT		0.478	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			36	48	0	0	0	1	0	36	48				
ANXA10	11199	broad.mit.edu	37	4	169105805	169105805	+	Silent	SNP	T	T	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr4:169105805T>C	ENST00000359299.3	+	11	1065	c.879T>C	c.(877-879)taT>taC	p.Y293Y		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	293						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGAGCGATATGGAAAATCCC	0.353																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(877-879)taT>taC		annexin A10							159.0	167.0	164.0					4																	169105805		2203	4300	6503	SO:0001819	synonymous_variant	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169105805T>C	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.879T>C	4.37:g.169105805T>C							p.Y293Y	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	11	1065	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	293					Q96IQ5|Q9UJV4	Silent	SNP	ENST00000359299.3	37	c.879T>C	CCDS34096.1																																																																																				0.353	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		52	78	0	0	0	1	0	52	78				
DHX29	54505	broad.mit.edu	37	5	54577281	54577281	+	Silent	SNP	G	G	C			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:54577281G>C	ENST00000251636.5	-	12	2176	c.2028C>G	c.(2026-2028)ctC>ctG	p.L676L	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	676	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTGTACAATAGAGTAACCTGG	0.393																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(2026-2028)ctC>ctG		DEAH (Asp-Glu-Ala-His) box polypeptide 29							106.0	97.0	100.0					5																	54577281		2203	4300	6503	SO:0001819	synonymous_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54577281G>C	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2028C>G	5.37:g.54577281G>C						RP11-506H20.1_ENST00000506435.1_RNA	p.L676L	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			12	2176	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	676			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	c.2028C>G	CCDS34158.1																																																																																				0.393	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		35	54	0	0	0	1	0	35	54				
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.P503R(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1507-1509)cCt>cGt		zinc finger protein 844							81.0	74.0	76.0					19																	12187443		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187443C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1508C>G	19.37:g.12187443C>G	ENSP00000392024:p.Pro503Arg					ZNF844_ENST00000441304.2_3'UTR	p.P503R	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1683	+			503					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1508C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889734	0.33348	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06142	3.34	2.75	-4.15	0.03881	.	.	.	.	.	T	0.07593	0.0191	M	0.76328	2.33	0.25823	N	0.984265	B	0.18741	0.03	B	0.12837	0.008	T	0.38950	-0.9637	9	0.72032	D	0.01	.	4.1302	0.10146	0.2954:0.1754:0.0:0.5292	.	503	Q08AG5	ZN844_HUMAN	R	503	ENSP00000392024:P503R	ENSP00000392024:P503R	P	+	2	0	ZNF844	12048443	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-4.308000	0.00255	-0.695000	0.05105	0.411000	0.27672	CCT		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	37	0	0	0	1	0	3	37				
LAMA2	3908	broad.mit.edu	37	6	129468139	129468139	+	Silent	SNP	G	G	T			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:129468139G>T	ENST00000421865.2	+	6	904	c.855G>T	c.(853-855)ggG>ggT	p.G285G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	285	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.G285G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGTTGGAGGGATGTGCATCT	0.433																																						ENST00000421865.2																			1	Substitution - coding silent(1)	p.G285G(1)	lung(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(853-855)ggG>ggT		laminin, alpha 2							236.0	217.0	223.0					6																	129468139		2203	4299	6502	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129468139G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.855G>T	6.37:g.129468139G>T							p.G285G	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	6	904	+			285			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.855G>T	CCDS5138.1																																																																																				0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	170	1	0	7.48243e-07	1	8.02992e-07	7	170				
ZNF592	9640	broad.mit.edu	37	15	85327543	85327543	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr15:85327543A>G	ENST00000560079.2	+	4	1925	c.1637A>G	c.(1636-1638)aAg>aGg	p.K546R	ZNF592_ENST00000299927.3_Missense_Mutation_p.K546R	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	546					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGTGAAAAAGGCTGCCCCA	0.572																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(1636-1638)aAg>aGg		zinc finger protein 592							79.0	80.0	80.0					15																	85327543		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327543A>G	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1637A>G	15.37:g.85327543A>G	ENSP00000452877:p.Lys546Arg					ZNF592_ENST00000560079.2_Missense_Mutation_p.K546R	p.K546R			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	1659	+			546					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1637A>G	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.578390	0.28180	.	.	ENSG00000166716	ENST00000299927	T	0.00605	6.27	4.63	4.63	0.57726	.	0.413038	0.27759	N	0.017974	T	0.00524	0.0017	N	0.02916	-0.46	0.29399	N	0.862047	D	0.67145	0.996	P	0.60609	0.877	T	0.59461	-0.7450	10	0.07990	T	0.79	-21.5885	7.5671	0.27885	0.8098:0.0:0.0:0.1902	.	546	Q92610	ZN592_HUMAN	R	546	ENSP00000299927:K546R	ENSP00000299927:K546R	K	+	2	0	ZNF592	83128547	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.535000	0.53575	1.931000	0.55961	0.533000	0.62120	AAG		0.572	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		3	68	0	0	0	1	0	3	68				
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)acadel	p.T550del	TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1648-1650)del		tripartite motif containing 33																																				SO:0001651	inframe_deletion	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968116_114968118delTGT	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1648_1650delACA	1.37:g.114968125_114968127delTGT	ENSP00000351250:p.Thr550del					TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del	p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1731_1733	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	550			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	In_Frame_Del	DEL	ENST00000358465.2	37	c.1648_1650delACA	CCDS872.1																																																																																				0.429	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		8	463						8	463	---	---	---	---
TUBA3D	113457	broad.mit.edu	37	2	132238149	132238149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:132238149delT	ENST00000321253.6	+	4	990	c.883delT	c.(883-885)tgcfs	p.C295fs		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	295					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CACCAATGCCTGCTTCGAGCC	0.597																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(883-885)gcfs		tubulin, alpha 3d							92.0	126.0	115.0					2																	132238149		2202	4300	6502	SO:0001589	frameshift_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238149delT	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.883delT	2.37:g.132238149delT	ENSP00000326042:p.Cys295fs						p.C295fs	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	990	+			295					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Frame_Shift_Del	DEL	ENST00000321253.6	37	c.883delT	CCDS33290.1																																																																																				0.597	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		10	285						10	285	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			0							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		2	4						2	4	---	---	---	---
LOC440173	440173	broad.mit.edu	37	9	89628124	89628125	+	lincRNA	INS	-	-	A	rs35998235		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr9:89628124_89628125insA	ENST00000602579.1	-	0	256					NR_027471.1																						TGTCTCCCTTCAAAAAAAAAAA	0.366																																						ENST00000602579.1																			0																																																			0							g.chr9:89628124_89628125insA																													9.37:g.89628135_89628135dupA								NR_027471.1						0	256	-									RNA	INS	ENST00000602579.1	37																																																																																						0.366	RP11-276H19.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052931.2			2	4						2	4	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1921-1923)del		SR-related CTD-associated factor 1				45,2899		7,31,1434						4.0	1.0			2	109,6037		13,83,2977	no	coding	SCAF1	NM_021228.2		20,114,4411	A1A1,A1R,RR		1.7735,1.5285,1.6942				154,8936				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155567_50155569delAAG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1921_1923delAAG	19.37:g.50155576_50155578delAAG	ENSP00000353769:p.Lys645del						p.K645del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2045_2047	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	645			Arg-rich.|Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.1921_1923delAAG	CCDS33074.1																																																																																				0.744	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	4						3	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76920224	76920224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:76920224delA	ENST00000373344.5	-	11	4067	c.3853delT	c.(3853-3855)tccfs	p.S1286fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1248fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1286	Interaction with DAXX.			S -> P (in Ref. 4; BAD92165). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCATCAGAGGAAAGATTGGCT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3853-3855)ccfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						120.0	107.0	111.0					X																	76920224		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920224delA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3853delT	X.37:g.76920224delA	ENSP00000362441:p.Ser1286fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1248fs|ATRX_ENST00000480283.1_5'UTR	p.S1286fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4067	-			1286	S -> P (in Ref. 4; BAD92165).				D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3853delT	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		13	50						13	50	---	---	---	---
