#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA|RNU6-1268P_ENST00000391214.1_RNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		4	157	0	0	0	1	0	4	157				
APOB	338	broad.mit.edu	37	2	21237441	21237441	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr2:21237441C>G	ENST00000233242.1	-	24	3848	c.3721G>C	c.(3721-3723)Gca>Cca	p.A1241P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1241					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCCAGATGCCTTCTGAAGC	0.453																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3721-3723)Gca>Cca		apolipoprotein B	Atorvastatin(DB01076)						103.0	99.0	100.0					2																	21237441		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21237441C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3721G>C	2.37:g.21237441C>G	ENSP00000233242:p.Ala1241Pro						p.A1241P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			24	3848	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1241					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3721G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	6.985	0.551810	0.13374	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00792	5.69	5.63	2.88	0.33553	.	0.476592	0.19249	N	0.118979	T	0.02012	0.0063	M	0.64997	1.995	0.19775	N	0.999956	D	0.57899	0.981	P	0.55161	0.77	T	0.46247	-0.9205	10	0.36615	T	0.2	.	9.2034	0.37272	0.0:0.6546:0.0:0.3454	.	1241	P04114	APOB_HUMAN	P	1241	ENSP00000233242:A1241P	ENSP00000233242:A1241P	A	-	1	0	APOB	21090946	0.652000	0.27349	0.000000	0.03702	0.118000	0.20060	0.050000	0.14120	0.430000	0.26230	0.655000	0.94253	GCA		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	58	0	0	0	1	0	4	58				
EDARADD	128178	broad.mit.edu	37	1	236645924	236645924	+	Missense_Mutation	SNP	G	G	A	rs376731607		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:236645924G>A	ENST00000334232.4	+	6	790	c.623G>A	c.(622-624)cGt>cAt	p.R208H	EDARADD_ENST00000359362.5_Missense_Mutation_p.R198H	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	208					cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)		p.R208L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGCGGGAGCGTGGAGACCCC	0.582																																						ENST00000359362.5																			1	Substitution - Missense(1)	p.R208L(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12						c.(592-594)cGt>cAt		EDAR-associated death domain		G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	59.0	67.0	64.0		623,593	-2.7	0.0	1		64	1,8593		0,1,4296	no	missense,missense	EDARADD	NM_145861.2,NM_080738.3	29,29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	208/216,198/206	236645924	1,12989	2198	4297	6495	SO:0001583	missense	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236645924G>A	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.623G>A	1.37:g.236645924G>A	ENSP00000335076:p.Arg208His					EDARADD_ENST00000334232.4_Missense_Mutation_p.R208H	p.R198H	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	807	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	208			Death.		A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Missense_Mutation	SNP	ENST00000334232.4	37	c.593G>A	CCDS1610.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552764	0.27739	0.0	1.16E-4	ENSG00000186197	ENST00000334232;ENST00000359362	T;T	0.80566	-0.83;-1.39	5.44	-2.72	0.05968	.	1.250450	0.06442	N	0.726226	T	0.53077	0.1774	N	0.04043	-0.29	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.34329	-0.9833	9	.	.	.	.	1.7435	0.02957	0.3932:0.2239:0.2701:0.1128	.	198;208	A8K7B5;Q8WWZ3	.;EDAD_HUMAN	H	208;198	ENSP00000335076:R208H;ENSP00000352320:R198H	.	R	+	2	0	EDARADD	234712547	0.000000	0.05858	0.000000	0.03702	0.646000	0.38490	0.081000	0.14823	-0.322000	0.08615	0.655000	0.94253	CGT		0.582	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		4	54	0	0	0	1	0	4	54				
RUFY1	80230	broad.mit.edu	37	5	179028901	179028901	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:179028901G>A	ENST00000319449.4	+	15	1782	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	RUFY1_ENST00000437570.2_Silent_p.R482R|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Silent_p.R482R|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	590					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGTTGCGGGAGCTTCAGG	0.478										HNSCC(44;0.11)																												ENST00000319449.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1768-1770)cgG>cgA		RUN and FYVE domain containing 1							113.0	114.0	114.0					5																	179028901		2203	4300	6503	SO:0001819	synonymous_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179028901G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1770G>A	5.37:g.179028901G>A		HNSCC(44;0.11)				RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000393438.2_Silent_p.R482R|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Silent_p.R482R	p.R590R	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	1782	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	590					Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	c.1770G>A	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	G	4.458	0.084770	0.08583	.	.	ENSG00000176783	ENST00000502434	.	.	.	4.8	2.97	0.34412	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32375	-0.9909	4	.	.	.	-16.7023	3.508	0.07698	0.2143:0.0:0.4492:0.3365	.	.	.	.	R	268	.	.	G	+	1	0	RUFY1	178961507	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	1.081000	0.30791	0.535000	0.28714	0.549000	0.68633	GGA		0.478	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		37	62	0	0	0	1	0	37	62				
ATP6V1A	523	broad.mit.edu	37	3	113514767	113514767	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:113514767C>T	ENST00000273398.3	+	11	1379	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.A391V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	424					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GTTACATCTGCCACTCTTGGT	0.383																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1270-1272)gCc>gTc		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							156.0	144.0	148.0					3																	113514767		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113514767C>T	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1271C>T	3.37:g.113514767C>T	ENSP00000273398:p.Ala424Val					ATP6V1A_ENST00000538620.1_Missense_Mutation_p.A391V	p.A424V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			11	1379	+			424					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.1271C>T	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433363	0.96150	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.79940	-1.32;-1.32	5.68	5.68	0.88126	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	M	0.93420	3.415	0.80722	D	1	D	0.62365	0.991	D	0.69479	0.964	D	0.93879	0.7169	10	0.87932	D	0	-21.419	19.7733	0.96382	0.0:1.0:0.0:0.0	.	424	P38606	VATA_HUMAN	V	141;424;391	ENSP00000273398:A424V;ENSP00000439874:A391V	ENSP00000273398:A424V	A	+	2	0	ATP6V1A	114997457	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.252000	0.78309	2.676000	0.91093	0.561000	0.74099	GCC		0.383	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		18	38	0	0	0	1	0	18	38				
ARPIN	348110	broad.mit.edu	37	15	90446605	90446605	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:90446605A>G	ENST00000357484.5	-	5	635	c.515T>C	c.(514-516)tTg>tCg	p.L172S	C15orf38_ENST00000460685.1_Missense_Mutation_p.L76S|C15orf38-AP3S2_ENST00000560224.1_5'Flank|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.L172S	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		172					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AAGTTTGGCCAATGAATCTGA	0.502																																						ENST00000357484.5																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(514-516)tTg>tCg		chromosome 15 open reading frame 38							136.0	129.0	131.0					15																	90446605		1953	4147	6100	SO:0001583	missense	348110							g.chr15:90446605A>G																												ENST00000357484.5:c.515T>C	15.37:g.90446605A>G	ENSP00000350075:p.Leu172Ser					C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.L172S|C15orf38_ENST00000460685.1_Missense_Mutation_p.L76S	p.L172S	NM_182616.2	NP_872422.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		5	635	-	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)							E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	c.515T>C	CCDS42080.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087736	0.55968	.	.	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.54479	0.57	5.85	5.85	0.93711	.	0.100480	0.40554	U	0.001067	T	0.60025	0.2237	L	0.51422	1.61	0.39016	D	0.95964	P;P	0.51147	0.92;0.942	P;P	0.53360	0.575;0.724	T	0.64888	-0.6301	10	0.59425	D	0.04	-18.7993	14.1823	0.65583	1.0:0.0:0.0:0.0	.	172;172	Q7Z6K5;E2QRD5	CO038_HUMAN;.	S	172	ENSP00000381377:L172S	ENSP00000381377:L172S	L	-	2	0	C15orf38-AP3S2;C15orf38	88247609	1.000000	0.71417	0.531000	0.27976	0.356000	0.29392	7.625000	0.83145	2.233000	0.73108	0.533000	0.62120	TTG		0.502	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			34	55	0	0	0	1	0	34	55				
NEK1	4750	broad.mit.edu	37	4	170476982	170476982	+	Missense_Mutation	SNP	C	C	T	rs201793759		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:170476982C>T	ENST00000439128.2	-	17	2091	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	NEK1_ENST00000511633.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.R484H|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	484					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R484H(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATCCTGGACGAACTCCAGG	0.413																																						ENST00000439128.2																			1	Substitution - Missense(1)	p.R484H(1)	ovary(1)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1450-1452)cGt>cAt		NIMA-related kinase 1		C	HIS/ARG,,,,HIS/ARG	1,3709		0,1,1854	103.0	98.0	100.0		1451,,,,1451	1.7	1.0	4		100	0,8188		0,0,4094	yes	missense,intron,intron,intron,missense	NEK1	NM_001199397.1,NM_001199398.1,NM_001199399.1,NM_001199400.1,NM_012224.2	29,,,,29	0,1,5948	TT,TC,CC		0.0,0.027,0.0084	benign,,,,benign	484/1287,,,,484/1259	170476982	1,11897	1855	4094	5949	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170476982C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1451G>A	4.37:g.170476982C>T	ENSP00000408020:p.Arg484His					NEK1_ENST00000512193.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.R484H|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000510533.1_Intron	p.R484H	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	17	2091	-		Prostate(90;0.00601)|Renal(120;0.0183)	484					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1451G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392102	0.25118	2.7E-4	0.0	ENSG00000137601	ENST00000439128;ENST00000507142	T;T	0.69306	-0.36;-0.39	5.67	1.72	0.24424	.	0.759582	0.11965	N	0.512390	T	0.45498	0.1345	N	0.22421	0.69	0.80722	D	1	B;B;B	0.13594	0.001;0.008;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.16600	-1.0397	10	0.09084	T	0.74	.	7.1435	0.25570	0.1256:0.6156:0.0:0.2588	.	484;484;484	Q96PY6-5;Q96PY6-3;Q96PY6	.;.;NEK1_HUMAN	H	484	ENSP00000408020:R484H;ENSP00000424757:R484H	ENSP00000408020:R484H	R	-	2	0	NEK1	170713557	0.998000	0.40836	0.982000	0.44146	0.990000	0.78478	0.459000	0.21908	0.001000	0.14605	0.591000	0.81541	CGT		0.413	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			7	63	0	0	0	1	0	7	63				
ZDHHC5	25921	broad.mit.edu	37	11	57466676	57466676	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr11:57466676T>C	ENST00000287169.3	+	11	3130	c.1768T>C	c.(1768-1770)Tca>Cca	p.S590P	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S537P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	590					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CTCAGATGATTCAAAGAGATC	0.607																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1768-1770)Tca>Cca		zinc finger, DHHC-type containing 5							80.0	86.0	84.0					11																	57466676		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466676T>C	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1768T>C	11.37:g.57466676T>C	ENSP00000287169:p.Ser590Pro					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S537P	p.S590P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	3130	+			590					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1768T>C	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	T	9.779	1.174826	0.21704	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.59224	0.28;1.29	5.83	3.49	0.39957	.	0.358383	0.29884	N	0.010947	T	0.34424	0.0897	N	0.22421	0.69	0.42468	D	0.992814	B	0.17667	0.023	B	0.19666	0.026	T	0.16600	-1.0397	10	0.02654	T	1	-3.8725	6.8621	0.24072	0.0:0.0764:0.1526:0.771	.	590	Q9C0B5	ZDHC5_HUMAN	P	537;590	ENSP00000432202:S537P;ENSP00000287169:S590P	ENSP00000287169:S590P	S	+	1	0	ZDHHC5	57223252	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	1.676000	0.37565	1.008000	0.39264	0.533000	0.62120	TCA		0.607	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		44	55	0	0	0	1	0	44	55				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	41	0	0	0	1	0	5	41				
ADAMTS9	56999	broad.mit.edu	37	3	64527574	64527574	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:64527574G>A	ENST00000498707.1	-	33	5479	c.5137C>T	c.(5137-5139)Cac>Tac	p.H1713Y	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H1685Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1713	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCATAAGTGGCTGGGTTGG	0.443																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5137-5139)Cac>Tac		ADAM metallopeptidase with thrombospondin type 1 motif, 9							180.0	171.0	174.0					3																	64527574		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527574G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5137C>T	3.37:g.64527574G>A	ENSP00000418735:p.His1713Tyr					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H1685Y	p.H1713Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	33	5479	-		Lung NSC(201;0.00682)	1713			TSP type-1 15.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5137C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532613	0.45073	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.18174	2.23;2.23	5.7	2.71	0.32032	.	0.604873	0.17756	N	0.163078	T	0.13329	0.0323	L	0.28344	0.845	0.80722	D	1	B;B	0.21452	0.056;0.05	B;B	0.31191	0.125;0.125	T	0.08953	-1.0697	10	0.66056	D	0.02	.	8.6087	0.33789	0.0:0.1108:0.375:0.5142	.	1685;1713	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	Y	1685;1713	ENSP00000295903:H1685Y;ENSP00000418735:H1713Y	ENSP00000295903:H1685Y	H	-	1	0	ADAMTS9	64502614	0.422000	0.25473	1.000000	0.80357	0.995000	0.86356	0.705000	0.25675	1.397000	0.46682	0.591000	0.81541	CAC		0.443	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			50	68	0	0	0	1	0	50	68				
RSPH1	89765	broad.mit.edu	37	21	43896045	43896045	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr21:43896045C>A	ENST00000291536.3	-	8	1007	c.840G>T	c.(838-840)gaG>gaT	p.E280D	RSPH1_ENST00000398352.3_Missense_Mutation_p.E242D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	280					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCTGGTCATACTCCCGGCTCT	0.637																																					Esophageal Squamous(23;63 706 6286 10288 12913)	ENST00000291536.3																			0				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						c.(838-840)gaG>gaT		radial spoke head 1 homolog (Chlamydomonas)							184.0	142.0	156.0					21																	43896045		2203	4300	6503	SO:0001583	missense	89765				meiosis	cytosol|nucleus		g.chr21:43896045C>A	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.840G>T	21.37:g.43896045C>A	ENSP00000291536:p.Glu280Asp					RSPH1_ENST00000398352.3_Missense_Mutation_p.E242D	p.E280D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN			8	1007	-			280					A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	c.840G>T	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	4.993	0.184422	0.09495	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.61859	0.12;0.07	1.9	-0.211	0.13172	.	0.192113	0.20556	U	0.090010	T	0.39963	0.1098	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19484	-1.0304	10	0.22706	T	0.39	.	7.7918	0.29125	0.0:0.3956:0.6043:0.0	.	280	Q8WYR4	RSPH1_HUMAN	D	280;242	ENSP00000291536:E280D;ENSP00000381395:E242D	ENSP00000291536:E280D	E	-	3	2	RSPH1	42769114	0.061000	0.20836	0.001000	0.08648	0.006000	0.05464	0.773000	0.26661	-0.047000	0.13423	-0.305000	0.09177	GAG		0.637	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			19	21	1	0	1.33834e-09	1	1.3941e-09	19	21				
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C	rs528619775	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:16640580T>C	ENST00000198939.6	-	8	1077	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Silent_p.Q336Q					calcium homeostasis endoplasmic reticulum protein									p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667													T|||	23	0.00459265	0.0129	0.0043	5008	,	,		16097	0.001		0.001	False		,,,				2504	0.001					ENST00000546361.2																			2	Substitution - coding silent(2)	p.Q336Q(2)	lung(2)	endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1006-1008)caA>caG		calcium homeostasis endoplasmic reticulum protein							21.0	29.0	26.0					19																	16640580		2193	4293	6486	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640580T>C	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1041A>G	19.37:g.16640580T>C						CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	p.Q336Q	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1159	-			336			Gln-rich.			Silent	SNP	ENST00000198939.6	37	c.1008A>G																																																																																					0.667	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		4	35	0	0	0	1	0	4	35				
ARID1A	8289	broad.mit.edu	37	1	27097676	27097676	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:27097676G>A	ENST00000324856.7	+	12	3636	c.3265G>A	c.(3265-3267)Gcc>Acc	p.A1089T	ARID1A_ENST00000374152.2_Missense_Mutation_p.A706T|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1089T|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1089	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|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)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGCAGTGCTGCCAGCTCCTT	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3265-3267)Gcc>Acc		AT rich interactive domain 1A (SWI-like)							92.0	82.0	85.0					1																	27097676		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27097676G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3265G>A	1.37:g.27097676G>A	ENSP00000320485:p.Ala1089Thr					ARID1A_ENST00000374152.2_Missense_Mutation_p.A706T|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1089T	p.A1089T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	12	3636	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1089			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3265G>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268770	0.95429	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.65916	-0.18;-0.18;-0.18	5.43	5.43	0.79202	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.81510	-0.0900	10	0.87932	D	0	-9.5637	19.4303	0.94760	0.0:0.0:1.0:0.0	.	1089;1089;743	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	T	1089;1089;706	ENSP00000320485:A1089T;ENSP00000387636:A1089T;ENSP00000363267:A706T	ENSP00000320485:A1089T	A	+	1	0	ARID1A	26970263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.578000	0.98200	2.830000	0.97506	0.655000	0.94253	GCC		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		12	6	0	0	0	1	0	12	6				
TNN	63923	broad.mit.edu	37	1	175106074	175106074	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:175106074C>T	ENST00000239462.4	+	17	3658	c.3545C>T	c.(3544-3546)tCc>tTc	p.S1182F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1182	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAGTGGCCTCCAGCAAGGAG	0.483																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3544-3546)tCc>tTc		tenascin N							72.0	70.0	71.0					1																	175106074		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175106074C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3545C>T	1.37:g.175106074C>T	ENSP00000239462:p.Ser1182Phe						p.S1182F	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	17	3658	+		Breast(1374;0.000962)	1182			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3545C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243749	0.79912	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.83335	-1.71	5.37	5.37	0.77165	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.314820	0.36134	N	0.002774	D	0.93825	0.8025	H	0.94345	3.525	0.43953	D	0.996621	D	0.65815	0.995	D	0.73708	0.981	D	0.95103	0.8232	10	0.87932	D	0	.	19.0713	0.93138	0.0:1.0:0.0:0.0	.	1182	Q9UQP3	TENN_HUMAN	F	1182;1005	ENSP00000239462:S1182F	ENSP00000239462:S1182F	S	+	2	0	TNN	173372697	0.721000	0.28007	1.000000	0.80357	0.995000	0.86356	3.434000	0.52841	2.677000	0.91161	0.655000	0.94253	TCC		0.483	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		5	64	0	0	0	1	0	5	64				
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139083362	139083362	+	Silent	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:139083362A>G	ENST00000354926.4	+	3	528	c.174A>G	c.(172-174)gaA>gaG	p.E58E	C7orf55-LUC7L2_ENST00000263545.6_Silent_p.E57E|C7orf55-LUC7L2_ENST00000541170.3_Silent_p.E55E|LUC7L2_ENST00000541515.3_Silent_p.E124E	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		ATCTTGGAGAATGTCTGAAAG	0.313																																						ENST00000354926.4																			0											c.(172-174)gaA>gaG									120.0	104.0	109.0					7																	139083362		1803	4077	5880	SO:0001819	synonymous_variant	0							g.chr7:139083362A>G		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.174A>G	7.37:g.139083362A>G						C7orf55-LUC7L2_ENST00000541170.3_Silent_p.E55E|C7orf55-LUC7L2_ENST00000263545.6_Silent_p.E57E|LUC7L2_ENST00000541515.3_Silent_p.E124E	p.E58E	NM_016019.3	NP_057103.2					3	528	+									Silent	SNP	ENST00000354926.4	37	c.174A>G	CCDS43656.1																																																																																				0.313	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			20	66	0	0	0	1	0	20	66				
FUBP1	8880	broad.mit.edu	37	1	78432598	78432598	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:78432598C>A	ENST00000370768.2	-	6	466	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.E129*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E150*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	129	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCCAGATTCCTGTTGTATG	0.318			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(385-387)Gaa>Taa		far upstream element (FUSE) binding protein 1							70.0	67.0	68.0					1																	78432598		2203	4299	6502	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78432598C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.385G>T	1.37:g.78432598C>A	ENSP00000359804:p.Glu129*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E129*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E150*	p.E129*			Q96AE4	FUBP1_HUMAN			6	472	-			129			KH 1.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.385G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529030	0.96446	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-31.9552	19.6617	0.95876	0.0:1.0:0.0:0.0	.	.	.	.	X	128;129;129;128;150;149	.	ENSP00000294623:E128X	E	-	1	0	FUBP1	78205186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.717000	0.92951	0.655000	0.94253	GAA		0.318	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		15	3	1	0	6.94344e-10	1	7.38664e-10	15	3				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	35	0	0	0	1	0	17	35				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	42	0	0	0	1	0	42	42				
MYH4	4622	broad.mit.edu	37	17	10366488	10366488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:10366488G>A	ENST00000255381.2	-	10	933	c.823C>T	c.(823-825)Cga>Tga	p.R275*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	275	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAAGTAACTCGGGACTTCTCT	0.353																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(823-825)Cga>Tga		myosin, heavy chain 4, skeletal muscle							76.0	78.0	77.0					17																	10366488		2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10366488G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.823C>T	17.37:g.10366488G>A	ENSP00000255381:p.Arg275*					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R275*	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			10	933	-			275			Myosin head-like.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.823C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353656	0.95830	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.37	-0.0246	0.13938	.	0.000000	0.35320	U	0.003296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5683	0.76313	0.0:0.0:0.2102:0.7898	.	.	.	.	X	275	.	ENSP00000255381:R275X	R	-	1	2	MYH4	10307213	0.139000	0.22563	0.530000	0.27963	0.997000	0.91878	0.358000	0.20216	0.248000	0.21435	0.650000	0.86243	CGA		0.353	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	52	0	0	0	1	0	5	52				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		8	152	0	0	0	1	0	8	152				
ABCA8	10351	broad.mit.edu	37	17	66873682	66873682	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:66873682C>T	ENST00000269080.2	-	31	4194	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	ABCA8_ENST00000586539.1_Missense_Mutation_p.D1393N|ABCA8_ENST00000430352.2_Missense_Mutation_p.D1393N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1353	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCTCAGCATCCCCTTTCCTC	0.587																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(4057-4059)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 8							188.0	170.0	176.0					17																	66873682		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873682C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4057G>A	17.37:g.66873682C>T	ENSP00000269080:p.Asp1353Asn					ABCA8_ENST00000430352.2_Missense_Mutation_p.D1393N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1393N	p.D1353N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			31	4194	-	Breast(10;4.56e-13)		1353			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.4057G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184712	0.78677	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.93604	-3.25;-3.25	4.34	3.33	0.38152	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.129169	0.34067	N	0.004283	D	0.94798	0.8320	L	0.52823	1.66	0.09310	N	0.999999	D;D;D	0.67145	0.996;0.97;0.996	D;P;D	0.74023	0.982;0.891;0.969	D	0.88814	0.3294	10	0.35671	T	0.21	.	13.2306	0.59941	0.0:0.8326:0.1674:0.0	.	1393;1393;1353	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	N	1353;1393	ENSP00000269080:D1353N;ENSP00000402814:D1393N	ENSP00000269080:D1353N	D	-	1	0	ABCA8	64385277	0.925000	0.31364	0.004000	0.12327	0.396000	0.30629	3.238000	0.51352	1.144000	0.42321	0.637000	0.83480	GAT		0.587	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		60	148	0	0	0	1	0	60	148				
REM2	161253	broad.mit.edu	37	14	23354539	23354539	+	Silent	SNP	C	C	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr14:23354539C>A	ENST00000267396.4	+	3	633	c.510C>A	c.(508-510)atC>atA	p.I170I	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	170					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TTTATGACATCTGGGAACAGG	0.507																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(508-510)atC>atA		RAS (RAD and GEM)-like GTP binding 2							142.0	132.0	135.0					14																	23354539		2010	4191	6201	SO:0001819	synonymous_variant	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354539C>A		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.510C>A	14.37:g.23354539C>A						REM2_ENST00000536884.1_Intron	p.I170I	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	3	633	+	all_cancers(95;4.69e-05)		170					B7Z5P1|Q8N8R8	Silent	SNP	ENST00000267396.4	37	c.510C>A	CCDS45082.1																																																																																				0.507	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		32	36	1	0	8.53417e-09	1	8.70834e-09	32	36				
KIF19	124602	broad.mit.edu	37	17	72341014	72341014	+	Missense_Mutation	SNP	C	C	T	rs145463528	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:72341014C>T	ENST00000389916.4	+	7	835	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	233	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGCGCAGCCGGGTCAAGAA	0.687													C|||	2	0.000399361	0.0	0.0	5008	,	,		16886	0.002		0.0	False		,,,				2504	0.0					ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(697-699)Cgg>Tgg		kinesin family member 19							30.0	32.0	31.0					17																	72341014		2200	4298	6498	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72341014C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.697C>T	17.37:g.72341014C>T	ENSP00000374566:p.Arg233Trp						p.R233W	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			7	835	+			233			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.697C>T	CCDS32718.2	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	18.83	3.707819	0.68615	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75938	-0.98;-0.98	5.49	2.24	0.28232	Kinesin, motor domain (4);	.	.	.	.	T	0.81475	0.4830	M	0.87827	2.91	0.50467	D	0.999872	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.993;0.998;0.978;0.978	T	0.83109	-0.0124	9	0.87932	D	0	.	8.7635	0.34689	0.2637:0.6636:0.0:0.0727	.	233;191;191;233	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	W	191;233	ENSP00000449134:R191W;ENSP00000374566:R233W	ENSP00000374566:R233W	R	+	1	2	KIF19	69852609	1.000000	0.71417	0.967000	0.41034	0.369000	0.29798	2.745000	0.47459	0.636000	0.30508	0.556000	0.70494	CGG		0.687	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		12	48	0	0	0	1	0	12	48				
GUSB	2990	broad.mit.edu	37	7	65439637	65439637	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:65439637G>A	ENST00000304895.4	-	7	1250	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.R228C|GUSB_ENST00000345660.6_Missense_Mutation_p.R323C	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	374			R -> C (in MPS7). {ECO:0000269|PubMed:8644704}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCAAGCCAGCGAAGCAGGTTG	0.572																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20	GRCh37	CM960798	GUSB	M		c.(1120-1122)Cgc>Tgc		glucuronidase, beta							92.0	85.0	87.0					7																	65439637		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65439637G>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1120C>T	7.37:g.65439637G>A	ENSP00000302728:p.Arg374Cys					GUSB_ENST00000421103.1_Missense_Mutation_p.R228C|GUSB_ENST00000345660.6_Missense_Mutation_p.R323C	p.R374C	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			7	1250	-			374		R -> C (in MPS7).			B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.1120C>T	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754898	0.49362	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95724	-3.79;-3.79;-3.79	4.48	4.48	0.54585	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.265416	0.38720	N	0.001584	D	0.93044	0.7786	M	0.75264	2.295	0.53005	D	0.999961	P;P	0.50819	0.939;0.475	B;B	0.35470	0.203;0.08	D	0.93618	0.6945	10	0.87932	D	0	.	11.95	0.52950	0.0:0.0:0.8267:0.1733	.	228;374	E9PCV0;P08236	.;BGLR_HUMAN	C	374;228;323	ENSP00000302728:R374C;ENSP00000391390:R228C;ENSP00000340734:R323C	ENSP00000302728:R374C	R	-	1	0	GUSB	65077072	0.992000	0.36948	0.983000	0.44433	0.941000	0.58515	2.967000	0.49216	2.498000	0.84270	0.556000	0.70494	CGC		0.572	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		44	46	0	0	0	1	0	44	46				
FAM188A	80013	broad.mit.edu	37	10	15885222	15885222	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr10:15885222C>T	ENST00000277632.3	-	3	444	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	75					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAACAATCCCGCCAAGAAGA	0.343																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(223-225)cGg>cAg		family with sequence similarity 188, member A							79.0	88.0	85.0					10																	15885222		2202	4299	6501	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15885222C>T	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.224G>A	10.37:g.15885222C>T	ENSP00000277632:p.Arg75Gln					FAM188A_ENST00000477891.1_5'UTR	p.R75Q	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			3	444	-			75					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.224G>A	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348284	0.61183	.	.	ENSG00000148481	ENST00000277632	T	0.28895	1.59	5.44	5.44	0.79542	.	0.043313	0.85682	D	0.000000	T	0.35480	0.0933	L	0.33339	1.005	0.80722	D	1	D	0.69078	0.997	P	0.55545	0.778	T	0.02617	-1.1133	10	0.13108	T	0.6	-9.365	15.9816	0.80114	0.0:1.0:0.0:0.0	.	75	Q9H8M7	F188A_HUMAN	Q	75	ENSP00000277632:R75Q	ENSP00000277632:R75Q	R	-	2	0	FAM188A	15925228	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.717000	0.54911	2.545000	0.85829	0.655000	0.94253	CGG		0.343	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		38	64	0	0	0	1	0	38	64				
PLA2G4D	283748	broad.mit.edu	37	15	42363709	42363709	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:42363709G>A	ENST00000290472.3	-	16	1708	c.1614C>T	c.(1612-1614)gcC>gcT	p.A538A		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	538	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTCATACCAGGCATCCAGCA	0.592																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1612-1614)gcC>gcT		phospholipase A2, group IVD (cytosolic)							102.0	86.0	92.0					15																	42363709		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42363709G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1614C>T	15.37:g.42363709G>A							p.A538A	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	16	1708	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	538			PLA2c.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.1614C>T	CCDS32203.1																																																																																				0.592	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		27	35	0	0	0	1	0	27	35				
KLF9	687	broad.mit.edu	37	9	73027912	73027912	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr9:73027912G>A	ENST00000377126.2	-	1	1628	c.368C>T	c.(367-369)cCg>cTg	p.P123L		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	123					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						GAGGGAGAGCGGGCTGGGCGC	0.607																																						ENST00000377126.2																			0				endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(367-369)cCg>cTg		Kruppel-like factor 9							94.0	96.0	95.0					9																	73027912		2203	4300	6503	SO:0001583	missense	687				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:73027912G>A	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	1123	protein-coding gene	gene with protein product		602902	"""basic transcription element binding protein 1"""	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.368C>T	9.37:g.73027912G>A	ENSP00000366330:p.Pro123Leu						p.P123L	NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN			1	1628	-			123					B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	c.368C>T	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767529	0.31320	.	.	ENSG00000119138	ENST00000377126	T	0.06768	3.26	4.55	3.65	0.41850	.	0.214071	0.32301	N	0.006288	T	0.06917	0.0176	L	0.34521	1.04	0.51482	D	0.999929	B	0.14805	0.011	B	0.06405	0.002	T	0.27773	-1.0064	10	0.27785	T	0.31	.	10.593	0.45321	0.096:0.0:0.904:0.0	.	123	Q13886	KLF9_HUMAN	L	123	ENSP00000366330:P123L	ENSP00000366330:P123L	P	-	2	0	KLF9	72217732	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.870000	0.63035	1.050000	0.40346	0.557000	0.71058	CCG		0.607	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		45	68	0	0	0	1	0	45	68				
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0					ENST00000254043.3																			3	Substitution - Missense(3)	p.V205I(3)	prostate(1)|kidney(1)|central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(613-615)Gtt>Att		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		613	2.7	1.0	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4198	-		Breast(137;0.000286)	205			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		9	76	0	0	0	1	0	9	76				
USP49	25862	broad.mit.edu	37	6	41773595	41773595	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr6:41773595A>G	ENST00000394253.3	-	3	1456	c.1127T>C	c.(1126-1128)gTg>gCg	p.V376A	USP49_ENST00000373009.3_Missense_Mutation_p.V376A|USP49_ENST00000373010.1_Missense_Mutation_p.V376A|USP49_ENST00000297229.2_Missense_Mutation_p.V376A|USP49_ENST00000373006.1_Missense_Mutation_p.V376A			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	376	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGGGCGACACTAGGGCCCA	0.597																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1126-1128)gTg>gCg		ubiquitin specific peptidase 49							65.0	61.0	63.0					6																	41773595		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773595A>G	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1127T>C	6.37:g.41773595A>G	ENSP00000377797:p.Val376Ala					USP49_ENST00000373009.3_Missense_Mutation_p.V376A|USP49_ENST00000373006.1_Missense_Mutation_p.V376A|USP49_ENST00000373010.1_Missense_Mutation_p.V376A|USP49_ENST00000297229.2_Missense_Mutation_p.V376A	p.V376A			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1456	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		376					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1127T>C		.	.	.	.	.	.	.	.	.	.	A	21.9	4.213844	0.79352	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	M	0.86028	2.79	0.58432	D	0.999999	P	0.50710	0.938	P	0.55161	0.77	T	0.60429	-0.7265	10	0.87932	D	0	-15.9388	15.2094	0.73206	1.0:0.0:0.0:0.0	.	376	Q70CQ1-2	.	A	376	ENSP00000377797:V376A;ENSP00000362101:V376A;ENSP00000362100:V376A;ENSP00000362097:V376A;ENSP00000297229:V376A	ENSP00000297229:V376A	V	-	2	0	USP49	41881573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.126000	0.65437	0.533000	0.62120	GTG		0.597	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		29	35	0	0	0	1	0	29	35				
SMC1A	8243	broad.mit.edu	37	X	53440235	53440235	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chrX:53440235G>A	ENST00000322213.4	-	4	689	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	188					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTTTTCTTGCGATGGTAATTA	0.493																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(562-564)Cgc>Tgc		structural maintenance of chromosomes 1A							231.0	203.0	212.0					X																	53440235		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53440235G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.562C>T	X.37:g.53440235G>A	ENSP00000323421:p.Arg188Cys					SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	p.R188C	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			4	689	-			188					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.562C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540863	0.65085	.	.	ENSG00000072501	ENST00000322213;ENST00000340213	D	0.82167	-1.58	4.52	4.52	0.55395	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90463	0.7013	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.71414	0.899;0.973;0.964	D	0.92029	0.5632	10	0.87932	D	0	.	15.5515	0.76155	0.0:0.0:1.0:0.0	.	166;188;188	Q6MZR8;A8K7A6;Q14683	.;.;SMC1A_HUMAN	C	188;187	ENSP00000323421:R188C	ENSP00000323421:R188C	R	-	1	0	SMC1A	53456960	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.347000	0.44036	1.998000	0.58463	0.436000	0.28706	CGC		0.493	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		57	4	0	0	0	1	0	57	4				
CCT6P3	643180	broad.mit.edu	37	7	64530103	64530103	+	RNA	SNP	G	G	A	rs369683052		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:64530103G>A	ENST00000426828.1	+	0	923				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TGACTGCTTGGGACATGCAGG	0.388																																						ENST00000426828.1																			0																																																			0							g.chr7:64530103G>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64530103G>A								NR_033416.1						0	923	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.388	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	55	0	0	0	1	0	4	55				
ARHGEF37	389337	broad.mit.edu	37	5	148989208	148989208	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:148989208G>A	ENST00000333677.6	+	4	571	c.408G>A	c.(406-408)cgG>cgA	p.R136R	RNU6-588P_ENST00000410281.1_RNA	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	136	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						ACACGTACCGGAAGGAGCCGG	0.572																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(406-408)cgG>cgA		Rho guanine nucleotide exchange factor (GEF) 37							70.0	77.0	75.0					5																	148989208		2188	4277	6465	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148989208G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.408G>A	5.37:g.148989208G>A							p.R136R	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			4	571	+			136			DH.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.408G>A	CCDS43385.1																																																																																				0.572	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		23	26	0	0	0	1	0	23	26				
ZGRF1	55345	broad.mit.edu	37	4	113540554	113540554	+	Missense_Mutation	SNP	G	G	A	rs563534997	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:113540554G>A	ENST00000505019.1	-	6	769	c.644C>T	c.(643-645)tCa>tTa	p.S215L	C4orf21_ENST00000445203.2_Missense_Mutation_p.S184L|C4orf21_ENST00000309071.5_Missense_Mutation_p.S215L	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		215						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTGACAGGTGAGCAAAAATA	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		19105	0.0		0.0	False		,,,				2504	0.002					ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(643-645)tCa>tTa		chromosome 4 open reading frame 21							46.0	49.0	48.0					4																	113540554		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113540554G>A																												ENST00000505019.1:c.644C>T	4.37:g.113540554G>A	ENSP00000424737:p.Ser215Leu					C4orf21_ENST00000445203.2_Missense_Mutation_p.S184L|C4orf21_ENST00000309071.5_Missense_Mutation_p.S215L	p.S215L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	769	-		Ovarian(17;0.156)	215					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.644C>T		.	.	.	.	.	.	.	.	.	.	G	15.00	2.703134	0.48412	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.84589	-1.87;1.66;1.21	4.9	2.87	0.33458	.	0.985279	0.08277	N	0.970474	T	0.82157	0.4976	M	0.67953	2.075	0.09310	N	1	B;B	0.17465	0.022;0.002	B;B	0.15052	0.005;0.012	T	0.67624	-0.5623	10	0.45353	T	0.12	-3.1225	5.1522	0.15015	0.2938:0.2277:0.4786:0.0	.	215;215	Q86YA3;G5EA02	CD021_HUMAN;.	L	215;215;184	ENSP00000424737:S215L;ENSP00000309095:S215L;ENSP00000390505:S184L	ENSP00000309095:S215L	S	-	2	0	C4orf21	113760003	0.001000	0.12720	0.002000	0.10522	0.086000	0.17979	0.655000	0.24933	0.298000	0.22638	0.591000	0.81541	TCA		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			7	79	0	0	0	1	0	7	79				
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:42791758G>A	ENST00000575354.2	+	5	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1124Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		2	Substitution - Missense(2)	p.R215Q(2)	central_nervous_system(2)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)cGg>cAg		capicua transcriptional repressor							66.0	65.0	65.0					19																	42791758		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791758G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.644G>A	19.37:g.42791758G>A	ENSP00000458663:p.Arg215Gln					CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	p.R1124Q			Q96RK0	CIC_HUMAN			6	3439	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3371G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711096	0.68730	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.79913	0.4528	M	0.83692	2.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.83501	0.0075	8	0.87932	D	0	-14.3323	14.5138	0.67807	0.0:0.0:1.0:0.0	.	215	Q96RK0	CIC_HUMAN	Q	215	.	ENSP00000160740:R215Q	R	+	2	0	CIC	47483598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			5	22	0	0	0	1	0	5	22				
EIF4G3	8672	broad.mit.edu	37	1	21205843	21205843	+	Silent	SNP	G	G	A	rs542108090		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:21205843G>A	ENST00000264211.8	-	14	2621	c.2427C>T	c.(2425-2427)taC>taT	p.Y809Y	EIF4G3_ENST00000602326.1_Silent_p.Y815Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y|EIF4G3_ENST00000536266.1_Silent_p.Y413Y	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	809	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACATGTTTGCGTAAGCCACAG	0.443																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(2443-2445)taC>taT		eukaryotic translation initiation factor 4 gamma, 3							169.0	167.0	167.0					1																	21205843		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21205843G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2427C>T	1.37:g.21205843G>A						EIF4G3_ENST00000536266.1_Silent_p.Y413Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000264211.8_Silent_p.Y809Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y	p.Y815Y	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	18	3028	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	809			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.2445C>T	CCDS214.1																																																																																				0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		4	80	0	0	0	1	0	4	80				
PCSK5	5125	broad.mit.edu	37	9	78943012	78943012	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr9:78943012G>A	ENST00000545128.1	+	32	4884	c.4346G>A	c.(4345-4347)tGc>tAc	p.C1449Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1449	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGTGGGAGCTGCATGGCCAAC	0.597																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4345-4347)tGc>tAc		proprotein convertase subtilisin/kexin type 5							383.0	330.0	346.0					9																	78943012		876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78943012G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4346G>A	9.37:g.78943012G>A	ENSP00000446280:p.Cys1449Tyr						p.C1449Y	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			32	4884	+			674					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.4346G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045184	0.75846	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.59772	0.24;0.61	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	H	0.97291	3.975	0.80722	D	1	.	.	.	.	.	.	D	0.89764	0.3949	8	0.66056	D	0.02	-18.4527	19.5946	0.95530	0.0:0.0:1.0:0.0	.	.	.	.	Y	1449;1179;1149	ENSP00000446280:C1449Y;ENSP00000411654:C1149Y	ENSP00000365945:C1179Y	C	+	2	0	PCSK5	78132832	1.000000	0.71417	0.479000	0.27329	0.005000	0.04900	6.693000	0.74582	2.813000	0.96785	0.655000	0.94253	TGC		0.597	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	237	0	0	0	1	0	4	237				
SEC22B	9554	broad.mit.edu	37	1	145109584	145109584	+	RNA	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:145109584G>A	ENST00000453618.1	+	0	573							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TCCCTAAGACGTTGGCTTTTG	0.428																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							474.0	466.0	469.0					1																	145109584		2038	4191	6229			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109584G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109584G>A										O75396	SC22B_HUMAN			0	573	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.428	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		52	352	0	0	0	1	0	52	352				
FOXN4	121643	broad.mit.edu	37	12	109724566	109724566	+	Intron	SNP	G	G	A	rs146413072|rs575859807|rs577660799	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr12:109724566G>A	ENST00000299162.5	-	7	701				FOXN4_ENST00000355216.1_Missense_Mutation_p.P14S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4						amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						GCAGGAGGTGgggcagggcag	0.632																																						ENST00000355216.1																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(40-42)Cca>Tca		forkhead box N4							38.0	34.0	36.0					12																	109724566		2203	4300	6503	SO:0001627	intron_variant	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109724566G>A	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.597-17C>T	12.37:g.109724566G>A						FOXN4_ENST00000299162.5_Intron	p.P14S			Q96NZ1	FOXN4_HUMAN			3	291	-			194					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.40C>T	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370088	0.61624	.	.	ENSG00000139445	ENST00000355216	D	0.98329	-4.87	3.99	3.09	0.35607	.	.	.	.	.	D	0.96821	0.8962	.	.	.	0.31688	N	0.642236	.	.	.	.	.	.	D	0.95598	0.8660	5	.	.	.	.	8.865	0.35280	0.1083:0.0:0.8917:0.0	.	.	.	.	S	14	ENSP00000347354:P14S	.	P	-	1	0	FOXN4	108208949	0.614000	0.27017	0.024000	0.17045	0.867000	0.49689	0.879000	0.28146	0.808000	0.34231	0.491000	0.48974	CCA		0.632	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		6	5	0	0	0	1	0	6	5				
MUC16	94025	broad.mit.edu	37	19	9049228	9049228	+	Silent	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:9049228C>T	ENST00000397910.4	-	5	32606	c.32403G>A	c.(32401-32403)gcG>gcA	p.A10801A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10803	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A10801A(1)|p.A6434A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTTTGCCGCCAAACTGG	0.507																																						ENST00000397910.4																			2	Substitution - coding silent(2)	p.A10801A(1)|p.A6434A(1)	lung(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32401-32403)gcG>gcA		mucin 16, cell surface associated							175.0	160.0	165.0					19																	9049228		1979	4166	6145	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049228C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32403G>A	19.37:g.9049228C>T							p.A10801A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32606	-			10803			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.32403G>A	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		92	99	0	0	0	1	0	92	99				
DMP1	1758	broad.mit.edu	37	4	88583167	88583167	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:88583167T>A	ENST00000339673.6	+	6	336	c.237T>A	c.(235-237)gaT>gaA	p.D79E	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D63E|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	79					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGGGCTCTGATGATCATCAAT	0.468																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(235-237)gaT>gaA		dentin matrix acidic phosphoprotein 1							56.0	59.0	58.0					4																	88583167		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583167T>A	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.237T>A	4.37:g.88583167T>A	ENSP00000340935:p.Asp79Glu					RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D63E	p.D79E	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	336	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	79					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.237T>A	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	T	9.561	1.118366	0.20877	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.58506	0.33;0.33	4.71	-0.359	0.12571	.	0.613158	0.14521	N	0.314473	T	0.46014	0.1371	L	0.46157	1.445	0.09310	N	1	P;P	0.41498	0.708;0.752	B;P	0.44772	0.331;0.46	T	0.34129	-0.9841	10	0.15952	T	0.53	-6.3175	4.1936	0.10433	0.1676:0.3909:0.0:0.4415	.	63;79	Q13316-2;Q13316	.;DMP1_HUMAN	E	79;63	ENSP00000340935:D79E;ENSP00000282479:D63E	ENSP00000282479:D63E	D	+	3	2	DMP1	88802191	0.026000	0.19158	0.000000	0.03702	0.003000	0.03518	0.239000	0.18023	-0.181000	0.10619	-0.475000	0.04921	GAT		0.468	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			31	30	0	0	0	1	0	31	30				
CAPN9	10753	broad.mit.edu	37	1	230898421	230898421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:230898421delT	ENST00000271971.2	+	4	538	c.425delT	c.(424-426)ctgfs	p.L142fs	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Frame_Shift_Del_p.L79fs|CAPN9_ENST00000354537.1_Frame_Shift_Del_p.L142fs	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	142	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGTGAGTGGCTGGACGTGGTG	0.547																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(424-426)cgfs		calpain 9							110.0	100.0	104.0					1																	230898421		2203	4300	6503	SO:0001589	frameshift_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230898421delT	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.425delT	1.37:g.230898421delT	ENSP00000271971:p.Leu142fs					CAPN9_ENST00000271971.2_Frame_Shift_Del_p.L142fs|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Frame_Shift_Del_p.L79fs	p.L142fs	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			4	507	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	142			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Frame_Shift_Del	DEL	ENST00000271971.2	37	c.425delT	CCDS1586.1																																																																																				0.547	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		39	43						39	43	---	---	---	---
TAPT1-AS1	202020	broad.mit.edu	37	4	16257860	16257860	+	RNA	DEL	T	T	-	rs397691726|rs60066752	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:16257860delT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		AGGGTTTGTCTTTTTTTTTTT	0.383													|||unknown(HR)	1863	0.372005	0.3366	0.4049	5008	,	,		17785	0.3661		0.4056	False		,,,				2504	0.3681					ENST00000570786.1																			0																																																			0							g.chr4:16257860delT			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16257860delT						TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA		NR_027696.1						0	234	+									RNA	DEL	ENST00000570786.1	37																																																																																						0.383	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		4	1						4	1	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs66758325|rs115430423|rs67954476		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AGGTTTAGTGATTTTTATTCCAA	0.429																																						ENST00000411500.1																			0																																																			0							g.chr6:32521769_32521771delATT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521769_32521771delATT								NR_001298.1						0	740	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.429	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	8						4	8	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541377	55541377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr8:55541377delT	ENST00000220676.1	+	4	5083	c.4935delT	c.(4933-4935)tctfs	p.S1645fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1645					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.P1648fs*62(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAAACCATCTTTTTTTCCTG	0.378																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Deletion - Frameshift(1)	p.P1648fs*62(1)	large_intestine(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4933-4935)tcfs		retinitis pigmentosa 1 (autosomal dominant)							96.0	100.0	99.0					8																	55541377		2202	4299	6501	SO:0001589	frameshift_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541377delT	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4935delT	8.37:g.55541377delT	ENSP00000220676:p.Ser1645fs						p.S1645fs	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5083	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1645						Frame_Shift_Del	DEL	ENST00000220676.1	37	c.4935delT	CCDS6160.1																																																																																				0.378	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		8	134						8	134	---	---	---	---
