#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
TIE1	7075	broad.mit.edu	37	1	43778133	43778133	+	Silent	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:43778133C>T	ENST00000372476.3	+	12	1867	c.1788C>T	c.(1786-1788)aaC>aaT	p.N596N	TIE1_ENST00000433781.2_Silent_p.N241N	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	596	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGGGAGAACGTCTCATCCC	0.697																																						uc001ciu.2																			0				lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1786-1788)AAC>AAT		tyrosine kinase with immunoglobulin-like and							35.0	34.0	34.0					1																	43778133		2203	4299	6502	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778133C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1788C>T	1.37:g.43778133C>T						TIE1_uc010okd.1_Silent_p.N596N|TIE1_uc010oke.1_Silent_p.N551N|TIE1_uc009vwq.2_Silent_p.N552N|TIE1_uc010okf.1_Silent_p.N241N|TIE1_uc010okg.1_Silent_p.N241N	p.N596N	NM_005424	NP_005415	P35590	TIE1_HUMAN			12	1867	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	596			Fibronectin type-III 2.|Extracellular (Potential).		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1788C>T	CCDS482.1																																																																																				0.697	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
DNAJB4	11080	broad.mit.edu	37	1	78478954	78478954	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:78478954G>C	ENST00000370763.5	+	2	688	c.431G>C	c.(430-432)aGa>aCa	p.R144T	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	144					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGATATCCAAGAGACAGGAAT	0.413																																						uc001dij.2																			0					0						c.(430-432)AGA>ACA		DnaJ (Hsp40) homolog, subfamily B, member 4							139.0	137.0	138.0					1																	78478954		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78478954G>C	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.431G>C	1.37:g.78478954G>C	ENSP00000359799:p.Arg144Thr					DNAJB4_uc010orn.1_Missense_Mutation_p.R29T	p.R144T	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN			2	590	+			144					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.431G>C	CCDS684.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246916	0.59103	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.64803	-0.12;0.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.38953	1.18	0.80722	D	1	B	0.17465	0.022	B	0.18561	0.022	T	0.35375	-0.9791	10	0.13853	T	0.58	.	18.928	0.92553	0.0:0.0:1.0:0.0	.	144	Q9UDY4	DNJB4_HUMAN	T	144	ENSP00000399494:R144T;ENSP00000359799:R144T	ENSP00000359799:R144T	R	+	2	0	DNAJB4	78251542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.439000	0.82584	0.644000	0.83932	AGA		0.413	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3		
S100A8	6279	broad.mit.edu	37	1	153362982	153362982	+	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:153362982G>T	ENST00000368733.3	-	2	199	c.30C>A	c.(28-30)aaC>aaA	p.N10K	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.N10K	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	10					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGATGATAGAGTTCAAGGCTT	0.502																																						uc001fbs.2																			0					0						c.(28-30)AAC>AAA		S100 calcium-binding protein A8							181.0	181.0	181.0					1																	153362982		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362982G>T	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.30C>A	1.37:g.153362982G>T	ENSP00000357722:p.Asn10Lys						p.N10K	NM_002964	NP_002955	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	85	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		10					A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.30C>A	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	15.24	2.773927	0.49786	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.09255	3.0;3.0	4.17	4.17	0.49024	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.270973	0.42682	D	0.000664	T	0.04815	0.0130	.	.	.	0.09310	N	1	P	0.39352	0.669	B	0.43889	0.435	T	0.36163	-0.9759	9	0.25106	T	0.35	.	12.2866	0.54795	0.0:0.0:1.0:0.0	.	10	P05109	S10A8_HUMAN	K	10	ENSP00000357722:N10K;ENSP00000357721:N10K	ENSP00000357721:N10K	N	-	3	2	S100A8	151629606	0.002000	0.14202	0.025000	0.17156	0.016000	0.09150	0.387000	0.20718	2.625000	0.88918	0.650000	0.86243	AAC		0.502	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964	
SHCBP1L	81626	broad.mit.edu	37	1	182920519	182920519	+	Silent	SNP	A	A	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:182920519A>T	ENST00000367547.3	-	2	725	c.489T>A	c.(487-489)acT>acA	p.T163T	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.T44T	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	235										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CACTGGGATTAGTCTTCCAGA	0.318																																						uc001gpu.2																			0					0						c.(487-489)ACT>ACA		chromosome 1 open reading frame 14							58.0	61.0	60.0					1																	182920519		2202	4294	6496	SO:0001819	synonymous_variant	81626							g.chr1:182920519A>T	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.489T>A	1.37:g.182920519A>T						C1orf14_uc001gpv.2_Silent_p.T44T|C1orf14_uc010pnz.1_Silent_p.T21T|C1orf14_uc001gpw.2_5'UTR	p.T163T	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	2	774	-			235					Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	ENST00000367547.3	37	c.489T>A	CCDS30955.1																																																																																				0.318	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933	
CFHR2	3080	broad.mit.edu	37	1	196887345	196887345	+	Intron	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:196887345T>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.C515R|CFHR4_ENST00000251424.4_Missense_Mutation_p.C269R|CFHR4_ENST00000367418.2_Missense_Mutation_p.C269R|CFHR4_ENST00000608469.1_Missense_Mutation_p.C139R			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TTCAGATCCATGTATAATAAC	0.259																																						uc001gto.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(805-807)TGT>CGT		complement factor H-related 4 precursor							36.0	41.0	39.0					1																	196887345		2167	4284	6451	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196887345T>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31240T>C	1.37:g.196887345T>C						CFHR4_uc009wyy.2_Missense_Mutation_p.C515R|CFHR4_uc001gtp.2_Missense_Mutation_p.C516R	p.C269R	NM_006684	NP_006675	Q92496	FHR4_HUMAN			6	874	+			269			Sushi 5.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.805T>C		.	.	.	.	.	.	.	.	.	.	T	16.57	3.159708	0.57368	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.99462	-5.94;-5.94;-5.94	3.24	3.24	0.37175	Complement control module (1);	.	.	.	.	D	0.99429	0.9798	M	0.88031	2.925	0.46396	D	0.999023	D;D;D	0.89917	0.988;1.0;1.0	P;D;D	0.87578	0.764;0.994;0.998	D	0.99437	1.0937	9	0.54805	T	0.06	.	8.1699	0.31249	0.0:0.0:0.0:1.0	.	515;516;269	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	R	515;269;269;269	ENSP00000356386:C515R;ENSP00000356388:C269R;ENSP00000251424:C269R	ENSP00000251424:C269R	C	+	1	0	CFHR4	195153968	1.000000	0.71417	0.771000	0.31576	0.408000	0.30992	3.180000	0.50895	1.238000	0.43771	0.358000	0.22013	TGT		0.259	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666	
CACNA1S	779	broad.mit.edu	37	1	201042718	201042718	+	Missense_Mutation	SNP	C	C	G	rs397843806		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:201042718C>G	ENST00000362061.3	-	15	2342	c.2116G>C	c.(2116-2118)Gag>Cag	p.E706Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E706Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	706					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTTTCTGCTCCAGCTTCTTG	0.542																																						uc001gvv.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2116-2118)GAG>CAG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						404.0	386.0	392.0					1																	201042718		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201042718C>G	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2116G>C	1.37:g.201042718C>G	ENSP00000355192:p.Glu706Gln						p.E706Q	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			15	2343	-			706			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2116G>C	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143327	0.57044	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96427	-4.01;-3.93	4.39	4.39	0.52855	.	0.248759	0.14191	U	0.335314	D	0.93916	0.8053	L	0.51853	1.615	0.50467	D	0.999879	P	0.41188	0.741	B	0.37267	0.245	D	0.92599	0.6089	10	0.31617	T	0.26	.	15.1236	0.72465	0.0:1.0:0.0:0.0	.	706	Q13698	CAC1S_HUMAN	Q	706	ENSP00000355192:E706Q;ENSP00000356307:E706Q	ENSP00000355192:E706Q	E	-	1	0	CACNA1S	199309341	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.974000	0.76122	1.987000	0.57996	0.551000	0.68910	GAG		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
USH2A	7399	broad.mit.edu	37	1	216348801	216348801	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:216348801G>C	ENST00000307340.3	-	21	4806	c.4420C>G	c.(4420-4422)Ctg>Gtg	p.L1474V	USH2A_ENST00000366943.2_Missense_Mutation_p.L1474V|USH2A_ENST00000366942.3_Missense_Mutation_p.L1474V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1474					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTTAACCAGAGGTGGCCTC	0.403										HNSCC(13;0.011)																												uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4420-4422)CTG>GTG		usherin isoform B							122.0	112.0	115.0					1																	216348801		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216348801G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4420C>G	1.37:g.216348801G>C	ENSP00000305941:p.Leu1474Val	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.L1474V	p.L1474V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	21	4807	-			1474			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4420C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.329831	0.01298	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.53423	0.62;0.62;0.62	5.38	-4.63	0.03359	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.110610	0.07146	N	0.848185	T	0.27419	0.0673	L	0.40543	1.245	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.12837	0.008;0.002	T	0.28933	-1.0028	10	0.11485	T	0.65	.	0.3594	0.00362	0.2357:0.1874:0.2775:0.2994	.	1474;1474	O75445-2;O75445	.;USH2A_HUMAN	V	1474	ENSP00000305941:L1474V;ENSP00000355910:L1474V;ENSP00000355909:L1474V	ENSP00000305941:L1474V	L	-	1	2	USH2A	214415424	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.625000	0.05534	-1.495000	0.01831	-1.071000	0.02255	CTG		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
DLG5	9231	broad.mit.edu	37	10	79581222	79581222	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:79581222G>A	ENST00000372391.2	-	15	3025	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1007	Pro-rich.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGAGGCCCCGCCCTCTTGGA	0.592																																						uc001jzk.2																			0				ovary(5)|breast(3)	8						c.(3019-3021)GCG>GTG		discs large homolog 5							37.0	48.0	44.0					10																	79581222		2083	4112	6195	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581222G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3020C>T	10.37:g.79581222G>A	ENSP00000361467:p.Ala1007Val					DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A611V	p.A1007V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3090	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1007			Pro-rich.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.3020C>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	5.801	0.332030	0.10956	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04119	3.7	5.87	-1.85	0.07784	.	0.969624	0.08390	N	0.953021	T	0.04137	0.0115	L	0.44542	1.39	0.24179	N	0.995594	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.48328	-0.9045	10	0.15499	T	0.54	.	6.0329	0.19690	0.2783:0.0:0.4441:0.2776	.	897;1007	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	V	1007;556	ENSP00000361467:A1007V	ENSP00000361467:A1007V	A	-	2	0	DLG5	79251228	0.870000	0.30015	0.030000	0.17652	0.030000	0.12068	2.301000	0.43628	-0.156000	0.11079	-0.345000	0.07892	GCG		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
CDHR1	92211	broad.mit.edu	37	10	85972090	85972090	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:85972090A>G	ENST00000372117.3	+	15	1812	c.1709A>G	c.(1708-1710)aAt>aGt	p.N570S	CDHR1_ENST00000332904.3_Missense_Mutation_p.N570S|CDHR1_ENST00000440770.2_Missense_Mutation_p.N274S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	570	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGATGTCAATGACCACCCC	0.522																																						uc001kcv.2																			0				ovary(1)	1						c.(1708-1710)AAT>AGT		protocadherin 21 precursor							168.0	148.0	154.0					10																	85972090		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972090A>G	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1709A>G	10.37:g.85972090A>G	ENSP00000361189:p.Asn570Ser					CDHR1_uc001kcw.2_Missense_Mutation_p.N570S|CDHR1_uc009xst.2_Missense_Mutation_p.N274S|CDHR1_uc001kcx.2_5'Flank	p.N570S	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			15	1709	+			570			Cadherin 5.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1709A>G	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193432	0.58017	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	D;D;D	0.85171	-1.95;-1.95;-1.95	5.0	5.0	0.66597	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.046593	0.85682	D	0.000000	D	0.94555	0.8246	H	0.96301	3.8	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.994	D;D;P	0.78314	0.991;0.988;0.891	D	0.96032	0.9017	10	0.87932	D	0	-19.873	13.9879	0.64348	1.0:0.0:0.0:0.0	.	274;570;570	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	S	570;570;274	ENSP00000331063:N570S;ENSP00000361189:N570S;ENSP00000415980:N274S	ENSP00000331063:N570S	N	+	2	0	CDHR1	85962070	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	8.843000	0.92142	2.022000	0.59522	0.533000	0.62120	AAT		0.522	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
TRPM5	29850	broad.mit.edu	37	11	2434731	2434731	+	Missense_Mutation	SNP	C	C	T	rs149949624	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:2434731C>T	ENST00000155858.6	-	13	1986	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	TRPM5_ENST00000452833.1_Missense_Mutation_p.V662I|TRPM5_ENST00000533060.1_Missense_Mutation_p.V660I|TRPM5_ENST00000528453.1_Missense_Mutation_p.V660I	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTGGTATAGACGAGGGCGGGG	0.677																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3																			0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1978-1980)GTC>ATC		transient receptor potential cation channel,		C	ILE/VAL	2,4394	4.2+/-10.8	0,2,2196	42.0	43.0	43.0		1978	-7.9	0.4	11	dbSNP_134	43	3,8595	3.0+/-9.4	0,3,4296	yes	missense	TRPM5	NM_014555.3	29	0,5,6492	TT,TC,CC		0.0349,0.0455,0.0385	benign	660/1166	2434731	5,12989	2198	4299	6497	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2434731C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1978G>A	11.37:g.2434731C>T	ENSP00000155858:p.Val660Ile					TRPM5_uc010qxl.1_Missense_Mutation_p.V660I|TRPM5_uc009ydn.2_Missense_Mutation_p.V662I	p.V660I	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	13	1987	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	660			Helical; (Potential).			Missense_Mutation	SNP	ENST00000155858.6	37	c.1978G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.501289	0.01001	4.55E-4	3.49E-4	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	3.97	-7.94	0.01152	.	0.222160	0.37219	N	0.002194	T	0.19208	0.0461	N	0.00707	-1.245	0.27144	N	0.961587	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.44907	-0.9297	10	0.02654	T	1	-10.0548	6.5943	0.22664	0.0:0.2965:0.2272:0.4763	.	660;662;660	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	I	654;660;662;660;660;660	ENSP00000434383:V654I;ENSP00000155858:V660I;ENSP00000387965:V662I;ENSP00000434121:V660I;ENSP00000436809:V660I	ENSP00000155858:V660I	V	-	1	0	TRPM5	2391307	0.009000	0.17119	0.445000	0.26908	0.096000	0.18686	-0.345000	0.07770	-1.690000	0.01432	-1.800000	0.00619	GTC		0.677	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555	
OR52B6	340980	broad.mit.edu	37	11	5602310	5602310	+	Silent	SNP	C	C	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5602310C>A	ENST00000345043.2	+	1	204	c.204C>A	c.(202-204)gtC>gtA	p.V68V	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATTTGTGTCATCCTCTCCC	0.522																																						uc010qzi.1																			0				ovary(1)	1						c.(202-204)GTC>GTA		olfactory receptor, family 52, subfamily B,							163.0	158.0	160.0					11																	5602310		2152	4263	6415	SO:0001819	synonymous_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602310C>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.204C>A	11.37:g.5602310C>A						HBG2_uc001mak.1_Intron	p.V68V	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	204	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	68			Cytoplasmic (Potential).		Q6IFI7	Silent	SNP	ENST00000345043.2	37	c.204C>A	CCDS41611.1																																																																																				0.522	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162	
TRIM34	53840	broad.mit.edu	37	11	5656037	5656037	+	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5656037G>T	ENST00000514226.1	+	4	1033	c.696G>T	c.(694-696)gaG>gaT	p.E232D	TRIM34_ENST00000429814.2_Missense_Mutation_p.E232D|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.E232D|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.E586D	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	232					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGAGAGAGCTCATCTCAG	0.488																																						uc001mbf.2																			0				ovary(1)	1						c.(1756-1758)GAG>GAT		tripartite motif-containing 6 and tripartite							127.0	111.0	116.0					11																	5656037		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5656037G>T	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.696G>T	11.37:g.5656037G>T	ENSP00000422947:p.Glu232Asp					HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.E232D|TRIM34_uc009yeq.2_5'UTR|TRIM34_uc001mbi.2_Missense_Mutation_p.E232D|TRIM34_uc001mbj.2_Missense_Mutation_p.E232D	p.E586D	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	10	2002	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	586					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1758G>T	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	5.250	0.231523	0.09969	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.03272	3.99;3.99;3.99;3.99	3.51	0.404	0.16355	.	0.231155	0.22145	N	0.063995	T	0.03477	0.0100	L	0.52206	1.635	0.22096	N	0.999366	B;B;B	0.24258	0.043;0.013;0.1	B;B;B	0.29942	0.045;0.02;0.109	T	0.40534	-0.9558	10	0.27785	T	0.31	.	1.6478	0.02765	0.1262:0.2112:0.4459:0.2167	.	232;232;586	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	D	586;232;232;232;586	ENSP00000422947:E232D;ENSP00000402595:E232D;ENSP00000395982:E232D;ENSP00000346916:E586D	ENSP00000402595:E232D	E	+	3	2	TRIM34;TRIM6-TRIM34	5612613	0.000000	0.05858	0.871000	0.34182	0.162000	0.22319	-1.289000	0.02780	0.094000	0.17404	0.655000	0.94253	GAG		0.488	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
MRVI1	10335	broad.mit.edu	37	11	10673684	10673684	+	Missense_Mutation	SNP	G	G	A	rs368754767		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:10673684G>A	ENST00000436272.1	-	1	164	c.86C>T	c.(85-87)gCg>gTg	p.A29V	MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.A29V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A38V|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000531107.1_Missense_Mutation_p.A29V|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.A38V|MRVI1_ENST00000527509.2_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	29					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGGAACCTCCGCTGCGTCAGC	0.647																																						uc010rcc.1																			0				ovary(2)|central_nervous_system(1)	3						c.(112-114)GCG>GTG		JAW1-related protein isoform c		G	VAL/ALA,,,VAL/ALA,,VAL/ALA	1,4069		0,1,2034	22.0	28.0	26.0		86,,,113,,113	0.6	0.9	11		26	0,8382		0,0,4191	no	missense,intron,utr-5,missense,intron,missense	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	64,,,64,,64	0,1,6225	AA,AG,GG		0.0,0.0246,0.0080	possibly-damaging,,,possibly-damaging,,possibly-damaging	29/905,,,38/707,,38/913	10673684	1,12451	2035	4191	6226	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10673684G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.86C>T	11.37:g.10673684G>A	ENSP00000412229:p.Ala29Val					MRVI1_uc001miw.2_Missense_Mutation_p.A29V|MRVI1_uc010rcb.1_Missense_Mutation_p.A29V|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.A38V|MRVI1_uc009ygd.1_Intron	p.A38V	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	2	499	-			29					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.113C>T		.	.	.	.	.	.	.	.	.	.	G	14.85	2.658583	0.47467	2.46E-4	0.0	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000423302;ENST00000541483;ENST00000531107	T;T;T;T;T	0.21543	2.86;2.86;2.5;2.0;2.86	5.26	0.588	0.17445	.	0.443560	0.19317	N	0.117257	T	0.12561	0.0305	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.18461	0.003;0.016;0.016;0.028	B;B;B;B	0.10450	0.003;0.002;0.002;0.005	T	0.08351	-1.0726	10	0.87932	D	0	-2.8033	6.0099	0.19569	0.0965:0.0:0.3244:0.5791	.	38;29;29;29	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	29;29;29;38;38;29	ENSP00000414598:A29V;ENSP00000412229:A29V;ENSP00000412130:A38V;ENSP00000437784:A38V;ENSP00000432436:A29V	ENSP00000307885:A29V	A	-	2	0	MRVI1	10630260	0.999000	0.42202	0.921000	0.36526	0.802000	0.45316	1.030000	0.30153	0.238000	0.21222	-1.028000	0.02416	GCG		0.647	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579	
MS4A8	83661	broad.mit.edu	37	11	60470903	60470903	+	Missense_Mutation	SNP	C	C	T	rs572019233		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:60470903C>T	ENST00000300226.2	+	3	475	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	91						integral component of membrane (GO:0016021)											TCCATCATGGCGACGGTTCTC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15713	0.0		0.0	False		,,,				2504	0.0					uc001npv.2																			0					0						c.(271-273)GCG>GTG		membrane-spanning 4-domains, subfamily A, member							146.0	133.0	137.0					11																	60470903		2203	4300	6503	SO:0001583	missense	83661					integral to membrane	receptor activity	g.chr11:60470903C>T	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.272C>T	11.37:g.60470903C>T	ENSP00000300226:p.Ala91Val					MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	p.A91V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			3	475	+			91			Helical; (Potential).		Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.272C>T	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.733032|-1.733032	0.00687|0.00687	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000300226;ENST00000529752|ENST00000525458	T;T|.	0.02446|.	4.29;4.29|.	3.62|3.62	-7.24|-7.24	0.01475|0.01475	.|.	2.684580|.	0.01449|.	N|.	0.015388|.	T|.	0.11580|.	0.0282|.	N|N	0.02685|0.02685	-0.53|-0.53	0.09310|0.09310	N|N	1|1	B;B|.	0.14805|.	0.011;0.001|.	B;B|.	0.09377|.	0.004;0.001|.	T|.	0.27191|.	-1.0081|.	10|.	0.11485|.	T|.	0.65|.	0.0772|0.0772	8.0544|8.0544	0.30596|0.30596	0.0:0.1354:0.3924:0.4722|0.0:0.1354:0.3924:0.4722	.|.	91;91|.	E9PQE1;Q9BY19|.	.;M4A8B_HUMAN|.	V|X	91|73	ENSP00000300226:A91V;ENSP00000436857:A91V|.	ENSP00000300226:A91V|.	A|R	+|+	2|1	0|2	MS4A8B|MS4A8B	60227479|60227479	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-3.321000|-3.321000	0.00513|0.00513	-3.018000|-3.018000	0.00270|0.00270	-1.419000|-1.419000	0.01111|0.01111	GCG|CGA		0.552	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		
HRASLS5	117245	broad.mit.edu	37	11	63257740	63257740	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:63257740C>G	ENST00000301790.4	-	2	403	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	HRASLS5_ENST00000540857.1_Missense_Mutation_p.E72Q|HRASLS5_ENST00000539221.1_Missense_Mutation_p.E82Q			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	82							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGCCCTGTTCTAATGTGCCC	0.498																																						uc001nwy.2																			0				ovary(1)	1						c.(244-246)GAA>CAA		HRAS-like suppressor family, member 5 isoform 1							194.0	219.0	210.0					11																	63257740		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63257740C>G	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.244G>C	11.37:g.63257740C>G	ENSP00000301790:p.Glu82Gln					HRASLS5_uc001nwz.2_Missense_Mutation_p.E72Q|HRASLS5_uc010rmq.1_Missense_Mutation_p.E82Q|HRASLS5_uc009yos.2_RNA	p.E82Q	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN			2	418	-			82					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.244G>C	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790678	0.50102	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.37915	1.19;1.67;1.17	3.89	2.95	0.34219	.	5.895030	0.00465	N	0.000119	T	0.46210	0.1381	L	0.32530	0.975	0.09310	N	1	D;B;B	0.57257	0.979;0.129;0.2	P;B;B	0.55785	0.784;0.081;0.055	T	0.38415	-0.9662	10	0.87932	D	0	-9.8589	9.4682	0.38826	0.0:0.7843:0.2157:0.0	.	82;72;82	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	Q	72;82;82	ENSP00000444809:E72Q;ENSP00000443873:E82Q;ENSP00000301790:E82Q	ENSP00000301790:E82Q	E	-	1	0	HRASLS5	63014316	0.062000	0.20869	0.018000	0.16275	0.024000	0.10985	0.716000	0.25836	1.191000	0.43056	0.655000	0.94253	GAA		0.498	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108	
PFKM	5213	broad.mit.edu	37	12	48529142	48529142	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:48529142G>A	ENST00000312352.7	+	10	951	c.912G>A	c.(910-912)acG>acA	p.T304T	PFKM_ENST00000395233.2_Intron|PFKM_ENST00000359794.5_Silent_p.T304T|PFKM_ENST00000547587.1_Silent_p.T304T|PFKM_ENST00000340802.6_Silent_p.T375T|PFKM_ENST00000551804.1_Intron	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	304	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGGTGGGACGCCATCAGCCT	0.572																																						uc001rrc.2																			0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(910-912)ACG>ACA		phosphofructokinase, muscle							126.0	104.0	111.0					12																	48529142		2203	4300	6503	SO:0001819	synonymous_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48529142G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.912G>A	12.37:g.48529142G>A						PFKM_uc001rra.1_5'UTR|PFKM_uc001rrb.1_Silent_p.T375T|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Silent_p.T304T|PFKM_uc001rrg.1_Intron	p.T304T	NM_000289	NP_000280	P08237	K6PF_HUMAN			10	1082	+			304					J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	c.912G>A	CCDS8760.1																																																																																				0.572	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	
ESPL1	9700	broad.mit.edu	37	12	53663316	53663316	+	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53663316G>T	ENST00000257934.4	+	3	681	c.590G>T	c.(589-591)cGa>cTa	p.R197L	ESPL1_ENST00000552462.1_Missense_Mutation_p.R197L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	197					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACAGCCTGTCGAGCGGTAGCT	0.517																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				lung(1)|kidney(1)|skin(1)	3						c.(589-591)CGA>CTA		separase							233.0	238.0	236.0					12																	53663316		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663316G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.590G>T	12.37:g.53663316G>T	ENSP00000257934:p.Arg197Leu					ESPL1_uc001scj.2_5'UTR	p.R197L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			3	681	+			197						Missense_Mutation	SNP	ENST00000257934.4	37	c.590G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930046	0.34096	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.12147	2.71;2.71	5.11	2.22	0.28083	.	0.355296	0.27052	N	0.021163	T	0.12305	0.0299	M	0.68317	2.08	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.20371	-1.0277	10	0.33141	T	0.24	.	2.8667	0.05603	0.3058:0.0:0.4965:0.1978	.	197	Q14674	ESPL1_HUMAN	L	197	ENSP00000257934:R197L;ENSP00000449831:R197L	ENSP00000257934:R197L	R	+	2	0	ESPL1	51949583	0.999000	0.42202	0.394000	0.26270	0.853000	0.48598	4.946000	0.63576	0.810000	0.34279	0.561000	0.74099	CGA		0.517	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
SP1	6667	broad.mit.edu	37	12	53804896	53804896	+	Missense_Mutation	SNP	A	A	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53804896A>T	ENST00000327443.4	+	6	2328	c.2230A>T	c.(2230-2232)Att>Ttt	p.I744F	SP1_ENST00000426431.2_Missense_Mutation_p.I737F	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	744	Domain D.|VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TTCAGCCCTTATTACCACCAA	0.572																																						uc001scw.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(2230-2232)ATT>TTT		Sp1 transcription factor isoform a							108.0	93.0	98.0					12																	53804896		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804896A>T	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2230A>T	12.37:g.53804896A>T	ENSP00000329357:p.Ile744Phe					SP1_uc010sog.1_Missense_Mutation_p.I737F	p.I744F	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	6	2327	+			744			Domain D.|VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.2230A>T	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.574948	0.65878	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08458	3.12;3.09	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000024	T	0.11495	0.0280	N	0.19112	0.55	0.58432	D	0.999993	D	0.65815	0.995	P	0.53185	0.72	T	0.04565	-1.0942	10	0.87932	D	0	.	14.2115	0.65767	1.0:0.0:0.0:0.0	.	744	P08047	SP1_HUMAN	F	744;737	ENSP00000329357:I744F;ENSP00000404263:I737F	ENSP00000329357:I744F	I	+	1	0	SP1	52091163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.548000	0.60718	2.254000	0.74563	0.460000	0.39030	ATT		0.572	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1		
ITGA7	3679	broad.mit.edu	37	12	56087909	56087909	+	Splice_Site	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:56087909T>C	ENST00000555728.1	-	20	2593		c.e20-2		ITGA7_ENST00000257880.7_Splice_Site|ITGA7_ENST00000394229.2_Splice_Site|ITGA7_ENST00000553804.1_Splice_Site|ITGA7_ENST00000347027.6_Splice_Site|ITGA7_ENST00000257879.6_Splice_Site|ITGA7_ENST00000394230.2_Splice_Site|ITGA7_ENST00000452168.2_Splice_Site			Q13683	ITA7_HUMAN	integrin, alpha 7						blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGCCATTCTGGCGTGGAGA	0.592																																						uc001shh.2																			0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.e19-1		integrin alpha 7 isoform 1 precursor							104.0	77.0	86.0					12																	56087909		2203	4300	6503	SO:0001630	splice_region_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56087909T>C		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2565-2A>G	12.37:g.56087909T>C						ITGA7_uc001shg.2_Splice_Site_p.G811_splice|ITGA7_uc010sps.1_Splice_Site_p.G718_splice|ITGA7_uc009znw.2_Splice_Site_p.G58_splice|ITGA7_uc009znx.2_Splice_Site_p.G692_splice	p.G815_splice	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			19	2665	-								B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Splice_Site	SNP	ENST00000555728.1	37	c.2445_splice		.	.	.	.	.	.	.	.	.	.	T	11.72	1.723887	0.30593	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.627	0.62170	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA7	54374176	0.885000	0.30320	0.998000	0.56505	0.080000	0.17528	1.990000	0.40717	2.156000	0.67533	0.482000	0.46254	.		0.592	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	Intron
MTERF2	80298	broad.mit.edu	37	12	107372183	107372183	+	Missense_Mutation	SNP	C	C	T	rs199833664		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:107372183C>T	ENST00000552029.1	-	2	2378	c.310G>A	c.(310-312)Gca>Aca	p.A104T	MTERFD3_ENST00000392830.2_Missense_Mutation_p.A104T|C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000240050.4_Missense_Mutation_p.A104T			Q49AM1	MTEF2_HUMAN		104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CAGACAATTGCTTCCGGGCAG	0.423																																						uc001tme.1																			0					0						c.(310-312)GCA>ACA		transcription termination factor-like protein							136.0	146.0	143.0					12																	107372183		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372183C>T																												ENST00000552029.1:c.310G>A	12.37:g.107372183C>T	ENSP00000447651:p.Ala104Thr					MTERFD3_uc001tmf.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmg.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmh.1_Missense_Mutation_p.A104T	p.A104T	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			2	2129	-			104					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.310G>A	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885976	0.72410	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101	T;T;T;T	0.12255	2.7;2.7;2.7;2.71	5.82	4.01	0.46588	.	0.049069	0.85682	N	0.000000	T	0.33673	0.0871	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.02437	-1.1159	10	0.31617	T	0.26	-12.3428	12.3753	0.55277	0.0:0.8637:0.0:0.1363	.	104	Q49AM1	MTER3_HUMAN	T	104	ENSP00000376575:A104T;ENSP00000240050:A104T;ENSP00000447651:A104T;ENSP00000448343:A104T	ENSP00000240050:A104T	A	-	1	0	MTERFD3	105896313	1.000000	0.71417	0.941000	0.38009	0.557000	0.35523	4.692000	0.61746	0.808000	0.34231	-0.262000	0.10625	GCA		0.423	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1		
EIF2B1	1967	broad.mit.edu	37	12	124116941	124116941	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:124116941T>C	ENST00000424014.2	-	2	274	c.66A>G	c.(64-66)tcA>tcG	p.S22S	GTF2H3_ENST00000228955.7_5'Flank|EIF2B1_ENST00000543940.1_5'UTR|GTF2H3_ENST00000543341.2_5'Flank|EIF2B1_ENST00000539951.1_Silent_p.S9S|EIF2B1_ENST00000537073.1_Silent_p.S22S	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	22					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CAGCCACTGCTGAGGCCATGT	0.398																																						uc001ufm.2																			0					0						c.(64-66)TCA>TCG		eukaryotic translation initiation factor 2B,							111.0	126.0	121.0					12																	124116941		2203	4300	6503	SO:0001819	synonymous_variant	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124116941T>C	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.66A>G	12.37:g.124116941T>C						GTF2H3_uc001ufo.1_5'Flank|GTF2H3_uc010tau.1_5'Flank|EIF2B1_uc001ufn.2_Silent_p.S22S|EIF2B1_uc010tat.1_Silent_p.S22S	p.S22S	NM_001414	NP_001405	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	2	209	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		22					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.66A>G	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628923	0.28978	.	.	ENSG00000111361	ENST00000534960	.	.	.	5.38	-2.33	0.06724	.	.	.	.	.	T	0.50240	0.1604	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44436	-0.9328	4	.	.	.	-9.6253	6.3727	0.21491	0.1798:0.4019:0.0:0.4183	.	.	.	.	R	38	.	.	Q	-	2	0	EIF2B1	122682894	0.008000	0.16893	0.992000	0.48379	0.998000	0.95712	-1.324000	0.02690	-0.226000	0.09899	0.455000	0.32223	CAG		0.398	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414	
FZD10	11211	broad.mit.edu	37	12	130648643	130648643	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:130648643G>A	ENST00000229030.4	+	1	1640	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R353H			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	386					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGTCTGCTACGTGGGCAGCAT	0.657																																						uc001uii.2																			0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(1156-1158)GTG>ATG		frizzled 10 precursor							99.0	90.0	93.0					12																	130648643		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648643G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1156G>A	12.37:g.130648643G>A	ENSP00000229030:p.Val386Met					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.V386M	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1612	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		386			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.1156G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517175|2.517175	0.44763|0.44763	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|D	.|0.88509	.|-2.39	5.21|5.21	4.32|4.32	0.51571|0.51571	.|GPCR, family 2-like (1);	.|0.000000	.|0.64402	.|U	.|0.000002	D|D	0.96087|0.96087	0.8725|0.8725	H|H	0.96460|0.96460	3.825|3.825	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.96958|0.96958	0.9699|0.9699	6|10	0.87932|0.87932	D|D	0|0	.|.	13.8021|13.8021	0.63206|0.63206	0.0743:0.0:0.9257:0.0|0.0743:0.0:0.9257:0.0	.|.	.|386	.|Q9ULW2	.|FZD10_HUMAN	H|M	353|386	.|ENSP00000229030:V386M	ENSP00000438460:R353H|ENSP00000229030:V386M	R|V	+|+	2|1	0|0	FZD10|FZD10	129214596|129214596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.643000|9.643000	0.98464|0.98464	1.203000|1.203000	0.43233|0.43233	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TEX26	122046	broad.mit.edu	37	13	31531137	31531137	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr13:31531137C>G	ENST00000380473.3	+	4	453	c.440C>G	c.(439-441)aCt>aGt	p.T147S	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	147																	ATTTCCCTTACTAAGAGAGAC	0.428																																						uc001uti.2																			0				ovary(2)|skin(1)	3						c.(439-441)ACT>AGT		hypothetical protein LOC122046							122.0	112.0	116.0					13																	31531137		2203	4300	6503	SO:0001583	missense	122046							g.chr13:31531137C>G	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.440C>G	13.37:g.31531137C>G	ENSP00000369840:p.Thr147Ser						p.T147S	NM_152325	NP_689538	Q8N6G2	CM026_HUMAN		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)	4	459	+		Lung SC(185;0.0281)	147						Missense_Mutation	SNP	ENST00000380473.3	37	c.440C>G	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905765	0.52333	.	.	ENSG00000175664	ENST00000380473	T	0.46451	0.87	4.86	3.08	0.35506	.	0.508313	0.17882	N	0.158821	T	0.46425	0.1392	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.64042	0.921	T	0.32402	-0.9908	10	0.08837	T	0.75	-21.0257	7.3301	0.26577	0.0:0.8203:0.0:0.1797	.	147	Q8N6G2	CM026_HUMAN	S	147	ENSP00000369840:T147S	ENSP00000369840:T147S	T	+	2	0	C13orf26	30429137	0.000000	0.05858	0.025000	0.17156	0.736000	0.42039	0.090000	0.15025	2.207000	0.71202	0.655000	0.94253	ACT		0.428	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325	
SLC15A1	6564	broad.mit.edu	37	13	99378425	99378425	+	Missense_Mutation	SNP	G	G	A	rs374943370		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr13:99378425G>A	ENST00000376503.5	-	4	252	c.197C>T	c.(196-198)aCg>aTg	p.T66M		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	66					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAGAATTGGCGTCAGGTAGCA	0.463																																						uc001vno.2																			0				ovary(1)	1						c.(196-198)ACG>ATG		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	G	MET/THR	0,4406		0,0,2203	79.0	66.0	71.0		197	5.3	1.0	13		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC15A1	NM_005073.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	66/709	99378425	1,13005	2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99378425G>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.197C>T	13.37:g.99378425G>A	ENSP00000365686:p.Thr66Met					SLC15A1_uc001vnp.1_Missense_Mutation_p.T34M	p.T66M	NM_005073	NP_005064	P46059	S15A1_HUMAN			4	274	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		66			Helical; (Potential).		Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.197C>T	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343575	0.61073	0.0	1.16E-4	ENSG00000088386	ENST00000376503;ENST00000376494;ENST00000313260	T	0.59083	0.29	6.17	5.33	0.75918	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	M	0.62266	1.93	0.80722	D	1	P;D	0.63046	0.914;0.992	B;P	0.49829	0.139;0.623	T	0.62812	-0.6775	10	0.30854	T	0.27	-13.4128	15.8853	0.79244	0.0647:0.0:0.9353:0.0	.	34;66	Q9BZ22;P46059	.;S15A1_HUMAN	M	66;34;76	ENSP00000365686:T66M	ENSP00000318937:T76M	T	-	2	0	SLC15A1	98176426	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.777000	0.68931	1.627000	0.50400	0.655000	0.94253	ACG		0.463	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	
CHD8	57680	broad.mit.edu	37	14	21870120	21870120	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:21870120G>C	ENST00000557364.1	-	20	4321	c.4058C>G	c.(4057-4059)gCt>gGt	p.A1353G	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.A1074G|CHD8_ENST00000399982.2_Missense_Mutation_p.A1353G			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1353					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACATGCCTTAGCAAAGGTGGA	0.428																																						uc001was.1																			0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(3220-3222)GCT>GGT		chromodomain helicase DNA binding protein 8							147.0	139.0	142.0					14																	21870120		1965	4182	6147	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870120G>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4058C>G	14.37:g.21870120G>C	ENSP00000451601:p.Ala1353Gly					CHD8_uc001war.1_Missense_Mutation_p.A970G|CHD8_uc001wav.1_Missense_Mutation_p.A516G	p.A1074G	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	20	3315	-	all_cancers(95;0.00121)		1353					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3221C>G	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.773970|4.773970	0.90108|0.90108	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.86865|.	-2.18;-2.18;-2.18|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.057934|.	0.64402|.	D|.	0.000002|.	D|D	0.82733|0.82733	0.5101|0.5101	M|M	0.82517|0.82517	2.595|2.595	0.58432|0.58432	D|D	0.999999|0.999999	P;D|.	0.54047|.	0.939;0.964|.	P;P|.	0.56751|.	0.643;0.805|.	T|T	0.82121|0.82121	-0.0614|-0.0614	10|5	0.59425|.	D|.	0.04|.	-4.767|-4.767	19.6509|19.6509	0.95805|0.95805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1353;1074|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	G|W	1074;1353;1073;1353|578	ENSP00000406288:A1074G;ENSP00000382863:A1353G;ENSP00000451601:A1353G|.	ENSP00000262707:A1073G|.	A|C	-|-	2|3	0|2	CHD8|CHD8	20939960|20939960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.813000|9.813000	0.99286|0.99286	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.428	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
NYNRIN	57523	broad.mit.edu	37	14	24878580	24878580	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:24878580G>A	ENST00000382554.3	+	4	1898	c.1580G>A	c.(1579-1581)gGg>gAg	p.G527E		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	527					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGGCTCAAGGGGGGCTGACA	0.567																																						uc001wpf.3																			0				ovary(2)|central_nervous_system(1)	3						c.(1579-1581)GGG>GAG		hypothetical protein LOC57523							36.0	40.0	38.0					14																	24878580		1994	4162	6156	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878580G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1580G>A	14.37:g.24878580G>A	ENSP00000371994:p.Gly527Glu						p.G527E	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			4	1898	+			527					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1580G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327729	0.41197	.	.	ENSG00000205978	ENST00000382554	T	0.10005	2.92	4.38	-2.13	0.07144	.	.	.	.	.	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41124	-0.9526	9	0.27785	T	0.31	.	4.9158	0.13846	0.4634:0.0:0.3964:0.1402	.	527	Q9P2P1	NYNRI_HUMAN	E	527	ENSP00000371994:G527E	ENSP00000371994:G527E	G	+	2	0	NYNRIN	23948420	0.050000	0.20438	0.001000	0.08648	0.216000	0.24613	0.330000	0.19715	-0.383000	0.07858	0.467000	0.42956	GGG		0.567	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
FRMD6	122786	broad.mit.edu	37	14	52194629	52194629	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:52194629G>A	ENST00000344768.5	+	14	1947	c.1751G>A	c.(1750-1752)tGc>tAc	p.C584Y	FRMD6_ENST00000554167.1_Missense_Mutation_p.C507Y|FRMD6_ENST00000553556.1_Missense_Mutation_p.C226Y|FRMD6_ENST00000395718.2_Missense_Mutation_p.C576Y|FRMD6_ENST00000356218.4_Missense_Mutation_p.C576Y			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	584					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGCCTCTATTGCAACAGTTGC	0.468																																						uc001wzd.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1750-1752)TGC>TAC		FERM domain containing 6							122.0	98.0	106.0					14																	52194629		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52194629G>A	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1751G>A	14.37:g.52194629G>A	ENSP00000343899:p.Cys584Tyr					FRMD6_uc001wzb.2_Missense_Mutation_p.C576Y|FRMD6_uc001wzc.2_Missense_Mutation_p.C576Y|FRMD6_uc001wze.2_Missense_Mutation_p.C507Y|FRMD6_uc001wzf.2_Missense_Mutation_p.C277Y|FRMD6_uc001wzg.2_Missense_Mutation_p.C226Y	p.C584Y	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			14	2036	+	all_epithelial(31;0.0163)|Breast(41;0.089)		584					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1751G>A	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.920931	0.73213	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	T;T;T;T	0.77098	-1.07;-1.07;-0.85;-0.65	5.96	5.07	0.68467	.	0.057733	0.64402	D	0.000001	T	0.71417	0.3337	N	0.22421	0.69	0.45284	D	0.998289	D;D;D	0.56521	0.969;0.976;0.969	P;P;P	0.47827	0.558;0.556;0.558	T	0.74615	-0.3606	10	0.54805	T	0.06	.	15.1395	0.72599	0.069:0.0:0.931:0.0	.	507;584;576	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	Y	576;576;584;507;226	ENSP00000348550:C576Y;ENSP00000379068:C576Y;ENSP00000343899:C584Y;ENSP00000451977:C507Y	ENSP00000343899:C584Y	C	+	2	0	FRMD6	51264379	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.422000	0.52749	2.832000	0.97577	0.655000	0.94253	TGC		0.468	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
SYNE2	23224	broad.mit.edu	37	14	64540771	64540771	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:64540771T>C	ENST00000344113.4	+	53	10995	c.10783T>C	c.(10783-10785)Ttg>Ctg	p.L3595L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000394768.2_5'Flank|SYNE2_ENST00000554584.1_Silent_p.L3628L|SYNE2_ENST00000555002.1_Silent_p.L229L|SYNE2_ENST00000358025.3_Silent_p.L3595L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3595					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATAATTGCTTTGAAGAATTT	0.358																																						uc001xgm.2																			0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(10783-10785)TTG>CTG		spectrin repeat containing, nuclear envelope 2							135.0	132.0	133.0					14																	64540771		1831	4084	5915	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64540771T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10783T>C	14.37:g.64540771T>C						SYNE2_uc001xgl.2_Silent_p.L3595L|SYNE2_uc010apy.2_5'Flank|SYNE2_uc010apw.1_Silent_p.L301L|SYNE2_uc010apx.1_5'UTR	p.L3595L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	53	11013	+			3595			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.10783T>C	CCDS41963.1																																																																																				0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
TUBGCP5	114791	broad.mit.edu	37	15	22835924	22835924	+	Missense_Mutation	SNP	G	G	T	rs143778036	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr15:22835924G>T	ENST00000283645.4	+	2	285	c.155G>T	c.(154-156)cGt>cTt	p.R52L	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R52L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	52					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGATTTCATCGTTTCTTGGAT	0.368																																						uc001yur.3																			0				skin(1)	1						c.(154-156)CGT>CTT		tubulin, gamma complex associated protein 5							131.0	145.0	140.0					15																	22835924		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22835924G>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.155G>T	15.37:g.22835924G>T	ENSP00000283645:p.Arg52Leu					TUBGCP5_uc001yuq.2_Missense_Mutation_p.R52L	p.R52L	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	2	285	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	52					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.155G>T	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	18.84	3.709997	0.68730	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.31510	1.49;1.49	5.44	1.48	0.22813	.	0.309061	0.36519	N	0.002550	T	0.39200	0.1069	M	0.80183	2.485	0.58432	D	0.999992	P;P	0.52577	0.852;0.954	P;P	0.47102	0.537;0.537	T	0.40384	-0.9566	10	0.66056	D	0.02	-4.1468	9.5773	0.39465	0.2816:0.0:0.7184:0.0	.	52;52	Q96RT8;E9PB12	GCP5_HUMAN;.	L	52	ENSP00000283645:R52L;ENSP00000409217:R52L	ENSP00000283645:R52L	R	+	2	0	TUBGCP5	20387365	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.288000	0.51739	0.371000	0.24564	0.655000	0.94253	CGT		0.368	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
KCTD19	146212	broad.mit.edu	37	16	67331487	67331487	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr16:67331487T>C	ENST00000304372.5	-	7	1121	c.1066A>G	c.(1066-1068)Agg>Ggg	p.R356G	KCTD19_ENST00000562860.1_5'Flank	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	356					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGATGTCCCTTTTGTCTAGG	0.517																																						uc002esu.2																			0				skin(1)	1						c.(1066-1068)AGG>GGG		potassium channel tetramerisation domain							114.0	114.0	114.0					16																	67331487		1913	4125	6038	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67331487T>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1066A>G	16.37:g.67331487T>C	ENSP00000305702:p.Arg356Gly					KCTD19_uc002est.2_Missense_Mutation_p.R128G|KCTD19_uc010vjj.1_Missense_Mutation_p.R99G	p.R356G	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	7	1117	-		Ovarian(137;0.192)	356					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1066A>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.335147	0.24253	.	.	ENSG00000168676	ENST00000304372	T	0.58060	0.36	5.97	4.89	0.63831	.	0.072732	0.64402	D	0.000014	T	0.22205	0.0535	N	0.02011	-0.69	0.32528	N	0.535309	B	0.09022	0.002	B	0.08055	0.003	T	0.19484	-1.0304	10	0.22109	T	0.4	-24.3638	6.716	0.23304	0.0:0.1482:0.0:0.8518	.	356	Q17RG1	KCD19_HUMAN	G	356	ENSP00000305702:R356G	ENSP00000305702:R356G	R	-	1	2	KCTD19	65888988	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.733000	0.38156	2.288000	0.76882	0.533000	0.62120	AGG		0.517	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)CGT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DNAH9	1770	broad.mit.edu	37	17	11696846	11696846	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:11696846T>C	ENST00000262442.4	+	42	8156	c.8088T>C	c.(8086-8088)tgT>tgC	p.C2696C	DNAH9_ENST00000454412.2_Silent_p.C2696C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2696					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTGGAATGTGTGAAATCCA	0.388																																						uc002gne.2																			0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(8086-8088)TGT>TGC		dynein, axonemal, heavy chain 9 isoform 2							153.0	141.0	145.0					17																	11696846		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11696846T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8088T>C	17.37:g.11696846T>C						DNAH9_uc010coo.2_Silent_p.C1990C	p.C2696C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	42	8156	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2696					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.8088T>C	CCDS11160.1																																																																																				0.388	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
BPTF	2186	broad.mit.edu	37	17	65862640	65862640	+	Silent	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:65862640A>G	ENST00000321892.4	+	3	1558	c.1497A>G	c.(1495-1497)caA>caG	p.Q499Q	BPTF_ENST00000306378.6_Silent_p.Q499Q|BPTF_ENST00000335221.5_Silent_p.Q499Q|BPTF_ENST00000424123.3_Silent_p.Q360Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	499					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAAGGTCCAACTTGCAGAAT	0.343																																						uc002jgf.2																			0				ovary(2)|skin(2)	4						c.(1495-1497)CAA>CAG		bromodomain PHD finger transcription factor							85.0	96.0	92.0					17																	65862640		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65862640A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1497A>G	17.37:g.65862640A>G						BPTF_uc002jge.2_Silent_p.Q499Q|BPTF_uc010wqm.1_Silent_p.Q499Q	p.Q499Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1558	+	all_cancers(12;6e-11)		499					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.1497A>G																																																																																					0.343	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
MIB1	57534	broad.mit.edu	37	18	19321653	19321653	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:19321653G>C	ENST00000261537.6	+	1	373	c.109G>C	c.(109-111)Ggc>Cgc	p.G37R	MIB1_ENST00000578646.1_Intron	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	37	MIB/HERC2 1. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGGCCATGTGGGCACCGTCCG	0.677																																						uc002ktq.2																			0				ovary(4)	4						c.(109-111)GGC>CGC		mindbomb homolog 1							25.0	24.0	24.0					18																	19321653		2193	4293	6486	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19321653G>C	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.109G>C	18.37:g.19321653G>C	ENSP00000261537:p.Gly37Arg					MIB1_uc002ktp.2_Intron	p.G37R	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		1	109	+			37			MIB/HERC2 1.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.109G>C	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550208	0.86127	.	.	ENSG00000101752	ENST00000261537	T	0.79247	-1.25	4.19	3.28	0.37604	Mib-herc2 (2);	0.119403	0.56097	D	0.000028	D	0.88644	0.6492	M	0.87381	2.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89843	0.4004	10	0.87932	D	0	-5.9312	13.6593	0.62357	0.0:0.1566:0.8433:0.0	.	37	Q86YT6	MIB1_HUMAN	R	37	ENSP00000261537:G37R	ENSP00000261537:G37R	G	+	1	0	MIB1	17575651	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.474000	0.97718	0.695000	0.31675	0.313000	0.20887	GGC		0.677	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
SOCS6	9306	broad.mit.edu	37	18	67992496	67992496	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:67992496A>G	ENST00000397942.3	+	2	908	c.592A>G	c.(592-594)Aat>Gat	p.N198D	SOCS6_ENST00000582322.1_Missense_Mutation_p.N198D	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	198					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGCTTCTCATAATGGAGACCT	0.512																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1																			0				large_intestine(1)|lung(1)	2						c.(592-594)AAT>GAT		suppressor of cytokine signaling 6							108.0	94.0	99.0					18																	67992496		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992496A>G	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.592A>G	18.37:g.67992496A>G	ENSP00000381034:p.Asn198Asp					SOCS6_uc010dqq.2_Missense_Mutation_p.N198D	p.N198D	NM_004232	NP_004223	O14544	SOCS6_HUMAN			2	908	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	198					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.592A>G	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.619214	0.28801	.	.	ENSG00000170677	ENST00000397942	T	0.25085	1.82	5.12	0.264	0.15607	.	0.487639	0.20210	N	0.096926	T	0.19967	0.0480	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18335	-1.0340	10	0.51188	T	0.08	-2.7492	8.3611	0.32359	0.6733:0.0:0.3267:0.0	.	198	O14544	SOCS6_HUMAN	D	198	ENSP00000381034:N198D	ENSP00000381034:N198D	N	+	1	0	SOCS6	66143476	0.075000	0.21258	0.000000	0.03702	0.102000	0.19082	1.557000	0.36299	0.023000	0.15187	0.459000	0.35465	AAT		0.512	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2		
LMNB2	84823	broad.mit.edu	37	19	2444529	2444529	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:2444529T>C	ENST00000582871.1	-	2	300	c.214A>G	c.(214-216)Atc>Gtc	p.I72V	LMNB2_ENST00000325327.3_Missense_Mutation_p.I92V	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	72	Linker 1.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCTTGATGCCACTCACC	0.642																																						uc002lvy.2																			0				large_intestine(1)|ovary(1)	2						c.(214-216)ATC>GTC		lamin B2							81.0	68.0	72.0					19																	2444529		2203	4300	6503	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2444529T>C	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.214A>G	19.37:g.2444529T>C	ENSP00000462730:p.Ile72Val					LMNB2_uc002lwa.1_Missense_Mutation_p.I92V	p.I72V	NM_032737	NP_116126	Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	301	-		Hepatocellular(1079;0.137)	72			Rod.|Linker 1.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.214A>G		.	.	.	.	.	.	.	.	.	.	T	14.14	2.447176	0.43429	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.04	4.04	0.47022	Filament (1);	0.135395	0.49305	D	0.000149	T	0.53981	0.1830	L	0.39898	1.24	0.51482	D	0.999923	B	0.20052	0.041	B	0.31101	0.124	T	0.50145	-0.8862	9	0.29301	T	0.29	.	11.8181	0.52222	0.0:0.0:0.0:1.0	.	72	Q03252	LMNB2_HUMAN	V	72	.	ENSP00000327054:I72V	I	-	1	0	LMNB2	2395529	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.583000	0.36579	1.481000	0.48307	0.459000	0.35465	ATC		0.642	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737	
PGLS	25796	broad.mit.edu	37	19	17626983	17626983	+	Splice_Site	SNP	C	C	T	rs143569199		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:17626983C>T	ENST00000252603.2	+	2	334	c.290C>T	c.(289-291)aCg>aTg	p.T97M	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	97					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						TGGCTGCAGACGCATCTTCTC	0.537																																						uc002ngw.2																			0					0						c.(289-291)ACG>ATG		6-phosphogluconolactonase		C	MET/THR	0,4406		0,0,2203	110.0	78.0	89.0		290	3.8	1.0	19	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	PGLS	NM_012088.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	97/259	17626983	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	25796					cytosol	6-phosphogluconolactonase activity	g.chr19:17626983C>T	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.289-1C>T	19.37:g.17626983C>T							p.T97M	NM_012088	NP_036220	O95336	6PGL_HUMAN			2	340	+			97						Missense_Mutation	SNP	ENST00000252603.2	37	c.290C>T	CCDS12361.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569663	0.28003	0.0	1.16E-4	ENSG00000130313	ENST00000252603	T	0.44083	0.93	4.84	3.8	0.43715	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.293340	0.37761	N	0.001943	T	0.56819	0.2011	M	0.69358	2.11	0.31298	N	0.68861	D	0.71674	0.998	D	0.65773	0.938	T	0.62581	-0.6824	10	0.56958	D	0.05	-39.1078	9.3426	0.38089	0.0:0.8989:0.0:0.1011	.	97	O95336	6PGL_HUMAN	M	97	ENSP00000252603:T97M	ENSP00000252603:T97M	T	+	2	0	PGLS	17487983	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	2.301000	0.43628	1.026000	0.39733	-0.224000	0.12420	ACG		0.537	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1		Missense_Mutation
ZNF233	353355	broad.mit.edu	37	19	44778066	44778066	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:44778066G>A	ENST00000391958.2	+	5	1380	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.R400K|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	418					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)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCCCATCAGAGAGGTCACTCT	0.418																																						uc002oyz.1																			0				skin(2)	2						c.(1252-1254)AGA>AAA		zinc finger protein 233							85.0	87.0	86.0					19																	44778066		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778066G>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1253G>A	19.37:g.44778066G>A	ENSP00000375820:p.Arg418Lys					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.R233K	p.R418K	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	1380	+		Prostate(69;0.0435)|all_neural(266;0.226)	418			C2H2-type 5; degenerate.		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1253G>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009924	0.35415	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.16897	2.31;2.31	4.28	-0.851	0.10716	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	N	0.22421	0.69	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.38112	-0.9676	9	0.23891	T	0.37	-1.5948	5.8178	0.18506	0.08:0.3852:0.4137:0.1211	.	418	A6NK53	ZN233_HUMAN	K	400;418;339	ENSP00000334957:R400K;ENSP00000375820:R418K	ENSP00000280305:R339K	R	+	2	0	ZNF233	49469906	0.000000	0.05858	0.006000	0.13384	0.299000	0.27559	-0.087000	0.11215	0.022000	0.15160	-0.243000	0.11985	AGA		0.418	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756	
PEG3	5178	broad.mit.edu	37	19	57328400	57328400	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:57328400G>A	ENST00000326441.9	-	10	1773	c.1410C>T	c.(1408-1410)caC>caT	p.H470H	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.H344H|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.H470H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.H346H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	470					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCATGATCTGGTGCTCAACAA	0.458																																						uc002qnu.2																			0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1408-1410)CAC>CAT		paternally expressed 3 isoform 1							202.0	173.0	183.0					19																	57328400		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328400G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1410C>T	19.37:g.57328400G>A						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.H441H|PEG3_uc002qnv.2_Silent_p.H470H|PEG3_uc002qnw.2_Silent_p.H346H|PEG3_uc002qnx.2_Silent_p.H344H|PEG3_uc010etr.2_Silent_p.H470H	p.H470H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1761	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	470			C2H2-type 1.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1410C>T	CCDS12948.1																																																																																				0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
TTC27	55622	broad.mit.edu	37	2	33036261	33036261	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:33036261G>C	ENST00000317907.4	+	17	2400	c.2169G>C	c.(2167-2169)caG>caC	p.Q723H		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	723										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GAAATGGGCAGAGTGAAAAGC	0.428																																						uc002rom.2																			0				central_nervous_system(1)	1						c.(2167-2169)CAG>CAC		tetratricopeptide repeat domain 27							102.0	104.0	103.0					2																	33036261		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33036261G>C	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2169G>C	2.37:g.33036261G>C	ENSP00000313953:p.Gln723His					TTC27_uc010ymx.1_Missense_Mutation_p.Q673H|TTC27_uc002ron.2_RNA	p.Q723H	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			17	2400	+			723					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.2169G>C	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	8.030	0.761644	0.15914	.	.	ENSG00000018699	ENST00000317907	T	0.60040	0.22	5.22	3.45	0.39498	.	0.330721	0.35772	N	0.002986	T	0.37046	0.0989	L	0.27053	0.805	0.31363	N	0.681115	B	0.02656	0.0	B	0.04013	0.001	T	0.29366	-1.0014	10	0.15066	T	0.55	-13.7778	6.2682	0.20939	0.2164:0.1334:0.6502:0.0	.	723	Q6P3X3	TTC27_HUMAN	H	723	ENSP00000313953:Q723H	ENSP00000313953:Q723H	Q	+	3	2	TTC27	32889765	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	0.627000	0.24506	0.792000	0.33850	0.650000	0.86243	CAG		0.428	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	
INO80B	83444	broad.mit.edu	37	2	74684891	74684891	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:74684891G>A	ENST00000233331.7	+	5	1065	c.971G>A	c.(970-972)cGc>cAc	p.R324H	WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000233615.2_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	324					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCTTGCTCCCGCACAGGCCAG	0.697																																						uc002slg.2																			0				pancreas(1)	1						c.(970-972)CGC>CAC		high mobility group AT-hook 1-like 4							16.0	18.0	18.0					2																	74684891		2154	4199	6353	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74684891G>A	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.971G>A	2.37:g.74684891G>A	ENSP00000233331:p.Arg324His					INO80B_uc002slf.1_3'UTR|INO80B_uc010yrr.1_Missense_Mutation_p.R296H|WBP1_uc002slh.1_Intron|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.R342H|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	p.R324H	NM_031288	NP_112578	Q9C086	IN80B_HUMAN			5	1016	+			324			HIT-type.			Missense_Mutation	SNP	ENST00000233331.7	37	c.971G>A	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128178	0.77549	.	.	ENSG00000115274	ENST00000233331	T	0.51817	0.69	5.27	5.27	0.74061	Zinc finger, HIT-type (1);	0.114795	0.64402	D	0.000014	T	0.46483	0.1395	N	0.12182	0.205	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.69307	0.963;0.886;0.886	T	0.45963	-0.9225	10	0.48119	T	0.1	-22.8453	9.7473	0.40455	0.0912:0.0:0.9088:0.0	.	342;309;324	B4DJ31;B4DJ22;Q9C086	.;.;IN80B_HUMAN	H	324	ENSP00000233331:R324H	ENSP00000233331:R324H	R	+	2	0	INO80B	74538399	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.278000	0.65592	2.739000	0.93911	0.561000	0.74099	CGC		0.697	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288	
KIF5C	3800	broad.mit.edu	37	2	149857246	149857246	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:149857246G>C	ENST00000435030.1	+	21	2691	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	KIF5C_ENST00000397413.1_Missense_Mutation_p.D543H|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.D680H			O60282	KIF5C_HUMAN	kinesin family member 5C	775					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATTGCTCAACGATAAAAGGGA	0.423																																						uc010zbu.1																			0				skin(1)	1						c.(2323-2325)GAT>CAT		kinesin family member 5C							189.0	173.0	178.0					2																	149857246		1855	4105	5960	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149857246G>C	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2323G>C	2.37:g.149857246G>C	ENSP00000393379:p.Asp775His					KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Missense_Mutation_p.D57H	p.D775H	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	21	2691	+			775					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.2323G>C		.	.	.	.	.	.	.	.	.	.	G	18.52	3.640792	0.67244	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.80033	-1.33;-1.33;-1.33	5.01	5.01	0.66863	.	0.196392	0.47852	D	0.000207	T	0.74473	0.3721	.	.	.	0.58432	D	0.999994	B;B	0.28971	0.037;0.229	B;B	0.30646	0.048;0.118	T	0.69888	-0.5023	8	.	.	.	.	18.5179	0.90942	0.0:0.0:1.0:0.0	.	775;83	O60282;Q59GB8	KIF5C_HUMAN;.	H	775;680;678;543	ENSP00000393379:D775H;ENSP00000410115:D680H;ENSP00000380560:D543H	.	D	+	1	0	KIF5C	149565492	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.657000	0.98554	2.601000	0.87937	0.655000	0.94253	GAT		0.423	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
COQ10B	80219	broad.mit.edu	37	2	198318368	198318368	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:198318368G>A	ENST00000263960.2	+	1	222	c.84G>A	c.(82-84)caG>caA	p.Q28Q	COQ10B_ENST00000409398.1_Silent_p.Q28Q|COQ10B_ENST00000545340.1_5'Flank|COQ10B_ENST00000409010.1_5'Flank	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	28						mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCGGGGCGCAGGCGCCCGTGC	0.627																																						uc002uuh.1																			0					0						c.(82-84)CAG>CAA		coenzyme Q10 homolog B precursor							33.0	43.0	40.0					2																	198318368		2202	4298	6500	SO:0001819	synonymous_variant	80219					mitochondrial inner membrane		g.chr2:198318368G>A	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.84G>A	2.37:g.198318368G>A						COQ10B_uc010fsl.1_5'Flank	p.Q28Q	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		1	138	+			28					B7Z1Y4	Silent	SNP	ENST00000263960.2	37	c.84G>A	CCDS2319.1																																																																																				0.627	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	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)	uc002vcs.2				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|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)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						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_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-			132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		Substrate.	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		
ACOT8	10005	broad.mit.edu	37	20	44477248	44477248	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr20:44477248C>T	ENST00000217455.4	-	3	419	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	110					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTTCACAGAGCGCACCGAGAA	0.627																																						uc002xqa.1																			0				skin(1)	1						c.(328-330)CGC>CAC		peroxisomal acyl-CoA thioesterase 1 isoform a							134.0	119.0	124.0					20																	44477248		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44477248C>T	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.329G>A	20.37:g.44477248C>T	ENSP00000217455:p.Arg110His					ACOT8_uc010zxe.1_Missense_Mutation_p.R110H|ACOT8_uc002xqc.1_Missense_Mutation_p.R57H|ACOT8_uc010zxf.1_Intron	p.R110H	NM_005469	NP_005460	O14734	ACOT8_HUMAN			3	410	-		Myeloproliferative disorder(115;0.0122)	110					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.329G>A	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.13|19.13	3.767685|3.767685	0.69878|0.69878	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000487205|ENST00000217455	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91280|0.91280	0.7251|0.7251	H|H	0.98901|0.98901	4.365|4.365	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.94377|0.94377	0.7601|0.7601	6|9	0.72032|0.87932	D|D	0.01|0	.|.	19.3333|19.3333	0.94303|0.94303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|110;57;110	.|B4DLF4;A8K8X9;O14734	.|.;.;ACOT8_HUMAN	T|H	65|110	.|.	ENSP00000433923:A131T|ENSP00000217455:R110H	A|R	-|-	1|2	0|0	ACOT8|ACOT8	43910655|43910655	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.985000|0.985000	0.73830|0.73830	7.126000|7.126000	0.77201|0.77201	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.627	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386	
SMARCC1	6599	broad.mit.edu	37	3	47755965	47755965	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:47755965G>A	ENST00000254480.5	-	8	851	c.732C>T	c.(730-732)gtC>gtT	p.V244V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	244					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATTACTATGGACCCAAGTAT	0.274																																						uc003crq.2																			0				skin(2)|lung(1)	3						c.(730-732)GTC>GTT		SWI/SNF-related matrix-associated							76.0	81.0	79.0					3																	47755965		2202	4299	6501	SO:0001819	synonymous_variant	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47755965G>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.732C>T	3.37:g.47755965G>A						SMARCC1_uc011bbd.1_Silent_p.V135V	p.V244V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	8	850	-			244					Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	c.732C>T	CCDS2758.1																																																																																				0.274	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		
ITIH1	3697	broad.mit.edu	37	3	52822082	52822082	+	Splice_Site	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:52822082G>A	ENST00000273283.2	+	17	2029	c.2005G>A	c.(2005-2007)Gtg>Atg	p.V669M	ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000540715.1_Splice_Site_p.V527M|ITIH1_ENST00000537050.1_Splice_Site_p.V381M|ITIH1_ENST00000405128.3_Splice_Site_p.V35M	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	669	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGTGACCGGCGGTGAGTCCTT	0.607																																						uc003dfs.2																			0				ovary(3)	3						c.(2005-2007)GTG>ATG		inter-alpha (globulin) inhibitor H1							83.0	77.0	79.0					3																	52822082		2203	4300	6503	SO:0001630	splice_region_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52822082G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2005+1G>A	3.37:g.52822082G>A						ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.V270M|ITIH1_uc010hmo.1_Missense_Mutation_p.V223M|ITIH1_uc003dfu.2_Missense_Mutation_p.V35M	p.V669M	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	17	2029	+			669			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.2005G>A	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815161	0.70912	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.18502	4.5;4.39;4.19;3.69;2.21	4.0	4.0	0.46444	.	0.067056	0.64402	D	0.000016	T	0.45558	0.1348	M	0.88640	2.97	0.44234	D	0.997079	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.986;0.99;0.972;0.99	T	0.51779	-0.8662	10	0.66056	D	0.02	-25.5629	11.9255	0.52817	0.0:0.0:1.0:0.0	.	527;35;270;669	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	M	669;527;381;222;35	ENSP00000273283:V669M;ENSP00000443973:V527M;ENSP00000443847:V381M;ENSP00000395836:V222M;ENSP00000384589:V35M	ENSP00000273283:V669M	V	+	1	0	ITIH1	52797122	0.998000	0.40836	0.952000	0.39060	0.142000	0.21351	4.361000	0.59461	2.525000	0.85131	0.655000	0.94253	GTG		0.607	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	Missense_Mutation
DZIP1L	199221	broad.mit.edu	37	3	137799416	137799416	+	Silent	SNP	T	T	C	rs369312454		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:137799416T>C	ENST00000327532.2	-	10	1643	c.1281A>G	c.(1279-1281)ccA>ccG	p.P427P	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.P427P	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	427					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CACCTTCCTCTGGAGAGTCCT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20550	0.0		0.001	False		,,,				2504	0.0					uc003erq.2																			0				ovary(1)|pancreas(1)	2						c.(1279-1281)CCA>CCG		DAZ interacting protein 1-like		C	,	0,4406		0,0,2203	129.0	113.0	119.0		1281,1281	-8.9	0.1	3		119	4,8596	819.1+/-406.8	0,4,4296	no	coding-synonymous,coding-synonymous	DZIP1L	NM_001170538.1,NM_173543.2	,	0,4,6499	CC,CT,TT		0.0465,0.0,0.0308	,	427/540,427/768	137799416	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137799416T>C	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1281A>G	3.37:g.137799416T>C						DZIP1L_uc003err.1_Silent_p.P427P	p.P427P	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			10	1644	-			427					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.1281A>G	CCDS3096.1																																																																																				0.522	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543	
ZBTB38	253461	broad.mit.edu	37	3	141162963	141162963	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:141162963A>G	ENST00000514251.1	+	4	2012	c.1733A>G	c.(1732-1734)tAt>tGt	p.Y578C	ZBTB38_ENST00000321464.5_Missense_Mutation_p.Y579C|ZBTB38_ENST00000441582.2_Missense_Mutation_p.Y578C					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAGCCCCTTATAAGAGCTAC	0.408																																						uc003etw.2																			0				ovary(3)	3						c.(1732-1734)TAT>TGT		zinc finger and BTB domain containing 38							63.0	61.0	61.0					3																	141162963		1838	4097	5935	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141162963A>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1733A>G	3.37:g.141162963A>G	ENSP00000426387:p.Tyr578Cys					ZBTB38_uc010hun.2_Missense_Mutation_p.Y575C|ZBTB38_uc010huo.2_Missense_Mutation_p.Y578C|ZBTB38_uc003ety.2_Missense_Mutation_p.Y578C|ZBTB38_uc010hup.2_Missense_Mutation_p.Y579C	p.Y578C	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	2715	+			578						Missense_Mutation	SNP	ENST00000514251.1	37	c.1733A>G	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	a	15.73	2.920226	0.52653	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.12039	3.35;2.72;2.72;2.72	5.69	3.26	0.37387	.	0.233180	0.36555	N	0.002521	T	0.28300	0.0699	M	0.66939	2.045	0.34499	D	0.705847	D;D	0.76494	0.999;0.999	D;D	0.64144	0.922;0.922	T	0.31724	-0.9933	9	.	.	.	-12.0748	8.0794	0.30735	0.724:0.1415:0.0:0.1345	.	579;578	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	C	578;578;578;579	ENSP00000424254:Y578C;ENSP00000426387:Y578C;ENSP00000406955:Y578C;ENSP00000372635:Y579C	.	Y	+	2	0	ZBTB38	142645653	1.000000	0.71417	0.863000	0.33907	0.930000	0.56654	6.800000	0.75165	0.406000	0.25560	-0.264000	0.10439	TAT		0.408	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2		
TRIML1	339976	broad.mit.edu	37	4	189068016	189068016	+	Silent	SNP	C	C	T	rs201972598	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr4:189068016C>T	ENST00000332517.3	+	6	1037	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	299	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L299L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATGCCTATCTCGTGTTGTCGG	0.512													c|||	2	0.000399361	0.0	0.0	5008	,	,		19111	0.001		0.0	False		,,,				2504	0.001				Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(895-897)CTC>CTT		tripartite motif family-like 1							152.0	152.0	152.0					4																	189068016		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068016C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.897C>T	4.37:g.189068016C>T						TRIML1_uc003izn.1_Silent_p.L23L	p.L299L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1012	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	299			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.897C>T	CCDS3851.1																																																																																				0.512	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
CNOT8	9337	broad.mit.edu	37	5	154250226	154250226	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr5:154250226A>G	ENST00000517876.1	+	5	793	c.317A>G	c.(316-318)gAc>gGc	p.D106G	CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000523698.1_5'UTR|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000403027.2_Missense_Mutation_p.D106G|CNOT8_ENST00000285896.6_Missense_Mutation_p.D106G|CNOT8_ENST00000521450.1_5'UTR|CNOT8_ENST00000521583.1_5'UTR|CNOT8_ENST00000524105.1_Intron			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	106					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTAGAGAGGACATGTACTCC	0.393																																					NSCLC(140;1804 1895 27149 29895 35312)	uc003lvu.2																			0					0						c.(316-318)GAC>GGC	Direct_reversal_of_damage	CCR4-NOT transcription complex, subunit 8							123.0	116.0	118.0					5																	154250226		2203	4300	6503	SO:0001583	missense	9337				negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:154250226A>G	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.317A>G	5.37:g.154250226A>G	ENSP00000430493:p.Asp106Gly					CNOT8_uc011ddf.1_5'UTR|CNOT8_uc011ddg.1_5'UTR|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.D106G|CNOT8_uc010jig.2_5'UTR|CNOT8_uc010jif.2_5'UTR|CNOT8_uc003lvw.2_Missense_Mutation_p.D106G|CNOT8_uc011ddi.1_5'UTR|CNOT8_uc011ddj.1_Intron	p.D106G	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	796	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	106					B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	ENST00000517876.1	37	c.317A>G	CCDS4329.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.833278	0.91036	.	.	ENSG00000155508	ENST00000517876;ENST00000520472;ENST00000519211;ENST00000403027;ENST00000517568;ENST00000285896;ENST00000542339	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.54	5.54	0.83059	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81118	-0.1078	10	0.87932	D	0	-20.7976	15.6768	0.77332	1.0:0.0:0.0:0.0	.	106	Q9UFF9	CNOT8_HUMAN	G	106;106;106;106;106;106;83	ENSP00000430493:D106G;ENSP00000430215:D106G;ENSP00000429108:D106G;ENSP00000384747:D106G;ENSP00000428090:D106G;ENSP00000285896:D106G	ENSP00000285896:D106G	D	+	2	0	CNOT8	154230419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.731000	0.91529	2.102000	0.63906	0.454000	0.30748	GAC		0.393	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779	
HIST1H1T	3010	broad.mit.edu	37	6	26107726	26107726	+	Missense_Mutation	SNP	T	T	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:26107726T>A	ENST00000338379.4	-	1	638	c.596A>T	c.(595-597)aAt>aTt	p.N199I		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	199					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTTCTAACATTAACTTCATG	0.448																																						uc003ngj.2																			0				ovary(2)	2						c.(595-597)AAT>ATT		histone cluster 1, H1t							118.0	113.0	115.0					6																	26107726		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107726T>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.596A>T	6.37:g.26107726T>A	ENSP00000341214:p.Asn199Ile						p.N199I	NM_005323	NP_005314	P22492	H1T_HUMAN			1	639	-			199					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.596A>T	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183171	0.38511	.	.	ENSG00000187475	ENST00000338379	T	0.04406	3.63	4.61	-0.578	0.11724	.	0.330918	0.29522	N	0.011911	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.50242	-0.8851	10	0.87932	D	0	-15.3139	8.3576	0.32340	0.0:0.3515:0.0:0.6485	.	199	P22492	H1T_HUMAN	I	199	ENSP00000341214:N199I	ENSP00000341214:N199I	N	-	2	0	HIST1H1T	26215705	0.212000	0.23540	0.000000	0.03702	0.001000	0.01503	0.547000	0.23299	-0.241000	0.09681	0.533000	0.62120	AAT		0.448	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323	
NCOA7	135112	broad.mit.edu	37	6	126210501	126210501	+	Missense_Mutation	SNP	A	A	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:126210501A>T	ENST00000368357.3	+	10	1653	c.1301A>T	c.(1300-1302)gAc>gTc	p.D434V	NCOA7_ENST00000229634.9_Missense_Mutation_p.D319V|NCOA7_ENST00000392477.2_Missense_Mutation_p.D434V	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	434					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CACAAAAAAGACACCTTGAAG	0.423																																						uc010kes.2																			0				lung(2)|ovary(1)	3						c.(1300-1302)GAC>GTC		nuclear receptor coactivator 7 isoform 1							60.0	64.0	63.0					6																	126210501		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210501A>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1301A>T	6.37:g.126210501A>T	ENSP00000357341:p.Asp434Val					NCOA7_uc003qae.3_Missense_Mutation_p.D434V|NCOA7_uc003qah.2_Missense_Mutation_p.D423V|NCOA7_uc003qai.2_Missense_Mutation_p.D434V|NCOA7_uc010ket.2_Missense_Mutation_p.D319V	p.D434V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	11	1750	+			434					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.1301A>T	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	A	4.474	0.087758	0.08583	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.32272	2.72;2.72;2.74;1.46	5.28	2.92	0.33932	.	0.553801	0.19647	N	0.109313	T	0.06872	0.0175	L	0.27053	0.805	0.26849	N	0.968195	B;P;P	0.42296	0.22;0.775;0.666	B;B;B	0.37304	0.022;0.246;0.125	T	0.14008	-1.0488	10	0.56958	D	0.05	-9.1616	3.5998	0.08020	0.5559:0.0:0.2498:0.1943	.	423;423;434	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	V	434;434;319;232	ENSP00000357341:D434V;ENSP00000376269:D434V;ENSP00000229634:D319V;ENSP00000389186:D232V	ENSP00000229634:D319V	D	+	2	0	NCOA7	126252194	0.978000	0.34361	0.403000	0.26384	0.009000	0.06853	2.450000	0.44943	0.473000	0.27368	0.533000	0.62120	GAC		0.423	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748	
TNRC18	84629	broad.mit.edu	37	7	5354614	5354614	+	Splice_Site	SNP	C	C	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:5354614C>A	ENST00000430969.1	-	26	7376		c.e26+1		TNRC18_ENST00000399537.4_Missense_Mutation_p.G2343V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18								chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCCAACCTACCACCCTTGGC	0.672																																						uc003soi.3																			0					0						c.e26+1		trinucleotide repeat containing 18							20.0	22.0	22.0					7																	5354614		1567	3579	5146	SO:0001630	splice_region_variant	84629						DNA binding	g.chr7:5354614C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7027+1G>T	7.37:g.5354614C>A							p.D2343_splice	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	26	7376	-		Ovarian(82;0.142)						A8MX41|Q96JH1|Q96K91	Splice_Site	SNP	ENST00000430969.1	37	c.7027_splice	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	14.38|14.38	2.517824|2.517824	0.44763|0.44763	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000430969;ENST00000328270|ENST00000399537	.|T	.|0.14516	.|2.5	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|.	.|.	.|.	.|.	.|T	.|0.25195	.|0.0612	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00668	.|-1.1618	.|6	.|0.29301	.|T	.|0.29	.|.	15.7741|15.7741	0.78198|0.78198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|V	-1|2343	.|ENSP00000382452:G2343V	.|ENSP00000382452:G2343V	.|G	-|-	.|2	.|0	TNRC18|TNRC18	5321140|5321140	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.448000|0.448000	0.32197|0.32197	2.643000|2.643000	0.46604|0.46604	2.380000|2.380000	0.81148|0.81148	0.561000|0.561000	0.74099|0.74099	.|GGT		0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Intron
OGDH	4967	broad.mit.edu	37	7	44747273	44747273	+	Silent	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:44747273A>G	ENST00000222673.5	+	22	2931	c.2889A>G	c.(2887-2889)caA>caG	p.Q963Q	OGDH_ENST00000543843.1_Silent_p.Q914Q|OGDH_ENST00000439616.2_Silent_p.Q813Q|OGDH_ENST00000447398.1_Silent_p.Q974Q|OGDH_ENST00000444676.1_Silent_p.Q978Q|OGDH_ENST00000449767.1_Silent_p.Q959Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	963					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ACAAGAACCAAGGCTACTATG	0.592																																						uc003tln.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2887-2889)CAA>CAG		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						122.0	100.0	108.0					7																	44747273		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747273A>G	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2889A>G	7.37:g.44747273A>G						OGDH_uc011kbx.1_Silent_p.Q959Q|OGDH_uc011kby.1_Silent_p.Q813Q|OGDH_uc003tlp.2_Silent_p.Q974Q|OGDH_uc011kbz.1_Silent_p.Q758Q	p.Q963Q	NM_002541	NP_002532	Q02218	ODO1_HUMAN			22	2998	+			963					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2889A>G	CCDS34627.1																																																																																				0.592	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
ERLIN2	11160	broad.mit.edu	37	8	37611537	37611537	+	Silent	SNP	T	T	C	rs574464016		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:37611537T>C	ENST00000276461.5	+	12	991	c.924T>C	c.(922-924)tcT>tcC	p.S308S	ERLIN2_ENST00000519638.1_Silent_p.S308S	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	308	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCATGGACTCTGCGGGCAGTG	0.463													T|||	1	0.000199681	0.0	0.0	5008	,	,		19297	0.001		0.0	False		,,,				2504	0.0					uc003xke.3																			0					0						c.(922-924)TCT>TCC		ER lipid raft associated 2 isoform 1							110.0	97.0	101.0					8																	37611537		2203	4300	6503	SO:0001819	synonymous_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37611537T>C	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.924T>C	8.37:g.37611537T>C							p.S308S	NM_007175	NP_009106	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		12	1039	+		Lung NSC(58;0.174)	308			Interaction with ERLIN1.|Lumenal (Potential).		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	ENST00000276461.5	37	c.924T>C	CCDS6095.1																																																																																				0.463	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175	
LAPTM4B	55353	broad.mit.edu	37	8	98863639	98863639	+	Silent	SNP	G	G	A	rs147233429	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:98863639G>A	ENST00000521545.2	+	7	852	c.618G>A	c.(616-618)ccG>ccA	p.P206P	LAPTM4B_ENST00000445593.2_Silent_p.P297P			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	350					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TGCTACCCCCGTATGATGATG	0.527																																						uc003yia.2																			0				skin(1)	1						c.(889-891)CCG>CCA		lysosomal associated transmembrane protein 4							168.0	133.0	145.0					8																	98863639		2203	4300	6503	SO:0001819	synonymous_variant	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98863639G>A	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.618G>A	8.37:g.98863639G>A						LAPTM4B_uc010mbg.2_Silent_p.P129P	p.P297P	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		7	1047	+	Breast(36;1.59e-06)		350					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Silent	SNP	ENST00000521545.2	37	c.891G>A																																																																																					0.527	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2		
SPATA31E1	286234	broad.mit.edu	37	9	90499950	90499950	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr9:90499950A>G	ENST00000325643.5	+	4	614	c.548A>G	c.(547-549)gAt>gGt	p.D183G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	183	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D183V(1)									TGCATGCAAGATCCGTCTCCT	0.627																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(547-549)GAT>GGT		chromosome 9 open reading frame 79							77.0	80.0	79.0					9																	90499950		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90499950A>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.548A>G	9.37:g.90499950A>G	ENSP00000322640:p.Asp183Gly					C9orf79_uc004apo.1_Intron	p.D183G	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	583	+			183			Pro-rich.		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.548A>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	8.579	0.881905	0.17467	.	.	ENSG00000177992	ENST00000325643	T	0.05717	3.4	2.35	1.21	0.21127	.	0.898653	0.09189	N	0.836249	T	0.10423	0.0255	L	0.57536	1.79	0.09310	N	1	P	0.50528	0.936	P	0.50934	0.654	T	0.27020	-1.0086	10	0.33940	T	0.23	.	3.2097	0.06678	0.7204:0.0:0.2796:0.0	.	183	Q6ZUB1	CI079_HUMAN	G	183	ENSP00000322640:D183G	ENSP00000322640:D183G	D	+	2	0	C9orf79	89689770	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.287000	0.18920	0.354000	0.24105	0.416000	0.27883	GAT		0.627	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
AK1	203	broad.mit.edu	37	9	130630690	130630691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr9:130630690_130630691insT	ENST00000373176.1	-	6	577_578	c.425_426insA	c.(424-426)aatfs	p.N142fs	AK1_ENST00000373156.1_Frame_Shift_Ins_p.N142fs|RP11-203J24.9_ENST00000476274.2_RNA|MIR4672_ENST00000583126.1_RNA|AK1_ENST00000223836.10_Frame_Shift_Ins_p.N158fs	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						TGGTCTCCTCATTGTCGTCCAC	0.574																																						uc004bsm.3																			0					0						c.(424-426)AATfs		adenylate kinase 1																																				SO:0001589	frameshift_variant	203				ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	g.chr9:130630690_130630691insT	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"""Adenylate kinases"""	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.426dupA	9.37:g.130630692_130630692dupT	ENSP00000362271:p.Asn142fs						p.N142fs	NM_000476	NP_000467	P00568	KAD1_HUMAN			6	578_579	-			142						Frame_Shift_Ins	INS	ENST00000373176.1	37	c.425_426insA	CCDS6881.1																																																																																				0.574	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1		
KDM5C	8242	broad.mit.edu	37	X	53223866	53223866	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chrX:53223866G>A	ENST00000375401.3	-	23	4025	c.3493C>T	c.(3493-3495)Cgt>Tgt	p.R1165C	KDM5C_ENST00000452825.3_Missense_Mutation_p.R1098C|KDM5C_ENST00000375379.3_Missense_Mutation_p.R1165C|KDM5C_ENST00000404049.3_Missense_Mutation_p.R1164C|KDM5C_ENST00000375383.3_Missense_Mutation_p.R1124C	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1165					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTGGTGCGACGCAGCTGCAGG	0.612			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.2				Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(3493-3495)CGT>TGT		jumonji, AT rich interactive domain 1C isoform							240.0	172.0	195.0					X																	53223866		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53223866G>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3493C>T	X.37:g.53223866G>A	ENSP00000364550:p.Arg1165Cys					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R1098C|KDM5C_uc004dsa.2_Missense_Mutation_p.R1164C|uc004dsb.1_RNA	p.R1165C	NM_004187	NP_004178	P41229	KDM5C_HUMAN			23	4026	-			1165					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.3493C>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	g	17.60	3.430733	0.62844	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.88664	-2.41;-2.13;-2.13;-2.13;-2.28	4.61	4.61	0.57282	.	0.058078	0.64402	D	0.000001	D	0.94499	0.8229	M	0.85777	2.775	0.52099	D	0.999942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.983;0.983	D	0.95319	0.8419	10	0.87932	D	0	-12.1671	14.082	0.64929	0.0:0.0:1.0:0.0	.	1098;1164;1165	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	C	1098;1165;1164;1165;1124	ENSP00000445176:R1098C;ENSP00000364550:R1165C;ENSP00000385394:R1164C;ENSP00000364528:R1165C;ENSP00000364532:R1124C	ENSP00000364528:R1165C	R	-	1	0	KDM5C	53240591	0.986000	0.35501	0.998000	0.56505	0.982000	0.71751	2.041000	0.41213	1.893000	0.54813	0.525000	0.51046	CGT		0.612	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
