#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
LRRK2	120892	broad.mit.edu	37	12	40760879	40760879	+	Splice_Site	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:40760879G>A	ENST00000298910.7	+	50	7520	c.7462G>A	c.(7462-7464)Gag>Aag	p.E2488K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2488					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGCAGAAAGGTAACATTTA	0.318																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.e50+1		leucine-rich repeat kinase 2							73.0	75.0	74.0					12																	40760879		2203	4298	6501	SO:0001630	splice_region_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40760879G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7462+1G>A	12.37:g.40760879G>A							p.E2488_splice	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			50	7520	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2488					A6NJU2|Q6ZS50|Q8NCX9	Splice_Site	SNP	ENST00000298910.7	37	c.7462_splice	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557798	0.27827	.	.	ENSG00000188906	ENST00000298910	T	0.72835	-0.69	5.58	5.58	0.84498	WD40 repeat-like-containing domain (1);	0.113231	0.64402	D	0.000010	T	0.66107	0.2756	L	0.60455	1.87	0.36541	D	0.871319	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.66991	-0.5783	10	0.42905	T	0.14	.	12.1013	0.53785	0.0:0.0:0.8286:0.1714	.	2488;2488	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	2488	ENSP00000298910:E2488K	ENSP00000298910:E2488K	E	+	1	0	LRRK2	39047146	1.000000	0.71417	0.994000	0.49952	0.040000	0.13550	5.380000	0.66202	2.620000	0.88729	0.491000	0.48974	GAG		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Missense_Mutation	18	32	0	0	0	1	0	18	32				
MAP3K19	80122	broad.mit.edu	37	2	135745259	135745259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:135745259G>A	ENST00000375845.3	-	7	1213	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.Q412*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.Q282*	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	395							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGGGTTTCTTGGAACTTGCTT	0.343																																						ENST00000375845.3																			0											c.(1183-1185)Caa>Taa		mitogen-activated protein kinase kinase kinase 19							93.0	93.0	93.0					2																	135745259		2203	4299	6502	SO:0001587	stop_gained	80122							g.chr2:135745259G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1183C>T	2.37:g.135745259G>A	ENSP00000365005:p.Gln395*					MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.Q282*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.Q412*	p.Q395*	NM_025052.3	NP_079328.3					7	1213	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.1183C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345867	0.61073	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	.	.	.	4.57	4.57	0.56435	.	0.990465	0.08190	N	0.984005	.	.	.	.	.	.	0.21553	N	0.999642	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	5.18	0.15156	0.1068:0.0:0.686:0.2072	.	.	.	.	X	395;282;412	.	ENSP00000351140:Q282X	Q	-	1	0	YSK4	135461729	0.516000	0.26218	0.724000	0.30704	0.238000	0.25445	1.476000	0.35420	2.356000	0.79943	0.460000	0.39030	CAA		0.343	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		19	72	0	0	0	1	0	19	72				
MAP2	4133	broad.mit.edu	37	2	210557510	210557510	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:210557510A>C	ENST00000360351.4	+	7	1122	c.616A>C	c.(616-618)Act>Cct	p.T206P	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T202P|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	206					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GACAACTAAAACTTACCCTGA	0.458																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(616-618)Act>Cct		microtubule-associated protein 2	Estramustine(DB01196)						85.0	82.0	83.0					2																	210557510		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210557510A>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.616A>C	2.37:g.210557510A>C	ENSP00000353508:p.Thr206Pro					MAP2_ENST00000447185.1_Missense_Mutation_p.T202P|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	p.T206P	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1122	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	206					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.616A>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857779	0.51376	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.28895	3.08;1.59;3.08	5.98	4.83	0.62350	.	0.633748	0.15642	N	0.251827	T	0.31451	0.0797	L	0.56769	1.78	0.09310	N	1	P;P	0.40875	0.731;0.612	P;B	0.44359	0.447;0.261	T	0.45629	-0.9248	10	0.87932	D	0	0.3931	1.8291	0.03127	0.581:0.1394:0.1461:0.1335	.	202;206	P11137-3;P11137	.;MAP2_HUMAN	P	206;288;202	ENSP00000353508:T206P;ENSP00000409969:T288P;ENSP00000392164:T202P	ENSP00000353508:T206P	T	+	1	0	MAP2	210265755	0.008000	0.16893	0.005000	0.12908	0.028000	0.11728	0.686000	0.25392	1.088000	0.41272	-0.256000	0.11100	ACT		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		20	39	0	0	0	1	0	20	39				
CYP1A1	1543	broad.mit.edu	37	15	75014760	75014760	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr15:75014760C>T	ENST00000379727.3	-	2	877	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	CYP1A1_ENST00000395048.2_Missense_Mutation_p.V227M|CYP1A1_ENST00000395049.4_Missense_Mutation_p.V227M|CYP1A1_ENST00000567032.1_Missense_Mutation_p.V227M|CYP1A1_ENST00000564596.1_De_novo_Start_InFrame			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	227					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GAGCCAACCACCTCCCCGAAA	0.493									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(679-681)Gtg>Atg		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						92.0	95.0	94.0					15																	75014760		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014760C>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.679G>A	15.37:g.75014760C>T	ENSP00000369050:p.Val227Met					CYP1A1_ENST00000564596.1_De_novo_Start_InFrame|CYP1A1_ENST00000395049.4_Missense_Mutation_p.V227M|CYP1A1_ENST00000395048.2_Missense_Mutation_p.V227M|CYP1A1_ENST00000567032.1_Missense_Mutation_p.V227M	p.V227M			P04798	CP1A1_HUMAN			2	877	-			227					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.679G>A	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	6.598	0.478656	0.12521	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049	T;T;T	0.69175	-0.38;-0.38;-0.38	5.0	-1.99	0.07457	.	0.486760	0.23045	N	0.052580	T	0.59101	0.2169	M	0.74647	2.275	0.09310	N	1	B;B	0.29341	0.146;0.242	B;B	0.32762	0.152;0.152	T	0.54200	-0.8329	10	0.52906	T	0.07	.	4.5538	0.12126	0.2379:0.4907:0.0:0.2713	.	227;227	E7EMT5;P04798	.;CP1A1_HUMAN	M	227	ENSP00000369050:V227M;ENSP00000378488:V227M;ENSP00000378489:V227M	ENSP00000369050:V227M	V	-	1	0	CYP1A1	72801813	0.002000	0.14202	0.039000	0.18376	0.172000	0.22775	0.844000	0.27654	-0.334000	0.08463	-0.300000	0.09419	GTG		0.493	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		20	119	0	0	0	1	0	20	119				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	275	0	0	0	1	0	5	275				
TCEB3C	162699	broad.mit.edu	37	18	44555262	44555262	+	Missense_Mutation	SNP	C	C	T	rs541677478		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:44555262C>T	ENST00000330682.2	-	1	1187	c.952G>A	c.(952-954)Gct>Act	p.A318T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	318	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCATCTTAGCGTTCACTCTG	0.652																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(952-954)Gct>Act		transcription elongation factor B polypeptide 3C (elongin A3)							193.0	203.0	199.0					18																	44555262		1901	3717	5618	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555262C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.952G>A	18.37:g.44555262C>T	ENSP00000328232:p.Ala318Thr					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.A318T	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1187	-			318			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.952G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	7.348	0.622273	0.14193	.	.	ENSG00000183791	ENST00000330682	T	0.11712	2.75	1.1	-2.21	0.06973	.	0.437986	0.19287	N	0.118005	T	0.04724	0.0128	L	0.28274	0.84	0.09310	N	1	B	0.29232	0.238	B	0.12156	0.007	T	0.25813	-1.0121	10	0.44086	T	0.13	-10.3348	1.8769	0.03220	0.3863:0.332:0.0:0.2817	.	318	Q8NG57	ELOA3_HUMAN	T	318	ENSP00000328232:A318T	ENSP00000328232:A318T	A	-	1	0	TCEB3C	42809260	0.993000	0.37304	0.001000	0.08648	0.003000	0.03518	1.618000	0.36954	-0.811000	0.04369	-0.515000	0.04445	GCT		0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		35	328	0	0	0	1	0	35	328				
NR3C2	4306	broad.mit.edu	37	4	149356963	149356963	+	Silent	SNP	A	A	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:149356963A>G	ENST00000358102.3	-	2	1412	c.1050T>C	c.(1048-1050)gcT>gcC	p.A350A	NR3C2_ENST00000344721.4_Silent_p.A350A|NR3C2_ENST00000511528.1_Silent_p.A350A|NR3C2_ENST00000512865.1_Silent_p.A350A|NR3C2_ENST00000355292.3_Silent_p.A350A	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	350	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TACTGGATCCAGCAGAGGTGC	0.522																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1048-1050)gcT>gcC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						100.0	96.0	97.0					4																	149356963		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356963A>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1050T>C	4.37:g.149356963A>G						NR3C2_ENST00000512865.1_Silent_p.A350A|NR3C2_ENST00000511528.1_Silent_p.A350A|NR3C2_ENST00000358102.3_Silent_p.A350A|NR3C2_ENST00000344721.4_Silent_p.A350A|NR3C2_ENST00000342437.4_Silent_p.A350A	p.A350A			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1412	-	all_hematologic(180;0.151)		350			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.1050T>C	CCDS3772.1																																																																																				0.522	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			25	67	0	0	0	1	0	25	67				
LRRC15	131578	broad.mit.edu	37	3	194081584	194081584	+	Silent	SNP	C	C	T	rs370128213		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:194081584C>T	ENST00000347624.3	-	2	274	c.189G>A	c.(187-189)acG>acA	p.T63T	LRRC15_ENST00000428839.1_Silent_p.T69T|LRRC15_ENST00000439944.2_Silent_p.T69T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	63					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAGTGATGTGCGTGTTGAGGA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		21958	0.001		0.0	False		,,,				2504	0.0					ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(187-189)acG>acA		leucine rich repeat containing 15		C	,	1,4405	2.1+/-5.4	0,1,2202	89.0	66.0	74.0		207,189	-10.1	0.0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRC15	NM_001135057.2,NM_130830.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	69/588,63/582	194081584	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194081584C>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.189G>A	3.37:g.194081584C>T						LRRC15_ENST00000428839.1_Silent_p.T69T|LRRC15_ENST00000439944.2_Silent_p.T69T	p.T63T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	274	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		63					Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.189G>A	CCDS3306.1																																																																																				0.612	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			27	60	0	0	0	1	0	27	60				
TMEM259	91304	broad.mit.edu	37	19	1011423	1011423	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:1011423G>A	ENST00000356663.3	-	9	1281	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	TMEM259_ENST00000333175.5_Missense_Mutation_p.A387V	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	387						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											ATACTGGTCCGCGAGCCACAC	0.652																																						ENST00000356663.3																			0											c.(1159-1161)gCg>gTg		transmembrane protein 259							58.0	42.0	47.0					19																	1011423		2157	4259	6416	SO:0001583	missense	91304							g.chr19:1011423G>A	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1160C>T	19.37:g.1011423G>A	ENSP00000349087:p.Ala387Val					TMEM259_ENST00000333175.5_Missense_Mutation_p.A387V	p.A387V	NM_001033026.1	NP_001028198.1					9	1281	-								O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	c.1160C>T	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641675	0.87859	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	3.81	3.81	0.43845	.	0.000000	0.85682	U	0.000000	T	0.79263	0.4416	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83355	-0.0001	9	0.87932	D	0	-10.5383	14.7309	0.69379	0.0:0.0:1.0:0.0	.	387;387	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	V	387	.	ENSP00000331423:A387V	A	-	2	0	C19orf6	962423	1.000000	0.71417	0.960000	0.40013	0.762000	0.43233	9.040000	0.93783	1.683000	0.51011	0.450000	0.29827	GCG		0.652	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		3	4	0	0	0	1	0	3	4				
SLC10A2	6555	broad.mit.edu	37	13	103698525	103698525	+	Silent	SNP	C	C	T	rs201571450	byFrequency	TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr13:103698525C>T	ENST00000245312.3	-	6	1601	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	335					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CCTTATAAAACGATGACTCTG	0.368													C|||	2	0.000399361	0.0	0.0	5008	,	,		16631	0.002		0.0	False		,,,				2504	0.0					ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1003-1005)tcG>tcA		solute carrier family 10 (sodium/bile acid cotransporter), member 2							153.0	128.0	137.0					13																	103698525		2203	4300	6503	SO:0001819	synonymous_variant	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103698525C>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.1005G>A	13.37:g.103698525C>T							p.S335S	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			6	1601	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		335					A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	c.1005G>A	CCDS9506.1																																																																																				0.368	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			24	30	0	0	0	1	0	24	30				
STRC	161497	broad.mit.edu	37	15	43896265	43896265	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr15:43896265T>C	ENST00000450892.2	-	22	4381	c.4304A>G	c.(4303-4305)gAg>gGg	p.E1435G	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Missense_Mutation_p.E662G	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1435					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAGCTGTGGCTCCCTACACAG	0.557																																						ENST00000450892.2																			0				skin(4)	4						c.(4303-4305)gAg>gGg		stereocilin							42.0	41.0	42.0					15																	43896265		2200	4298	6498	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43896265T>C	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4304A>G	15.37:g.43896265T>C	ENSP00000401513:p.Glu1435Gly					STRC_ENST00000541030.1_Missense_Mutation_p.E662G	p.E1435G	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	22	4381	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1435						Missense_Mutation	SNP	ENST00000450892.2	37	c.4304A>G	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.598909	0.00857	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.77229	-1.07;-1.08	5.6	2.04	0.26737	.	0.895753	0.09511	N	0.792309	T	0.54224	0.1845	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.36261	-0.9755	9	0.07990	T	0.79	0.3255	4.6195	0.12442	0.0:0.5088:0.1533:0.3379	.	662;1435	F5GXA4;Q7RTU9	.;STRC_HUMAN	G	1435;1435;662	ENSP00000401513:E1435G;ENSP00000440413:E662G	ENSP00000299992:E1435G	E	-	2	0	STRC	41683557	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	0.803000	0.27083	-0.042000	0.13535	-1.071000	0.02255	GAG		0.557	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		6	20	0	0	0	1	0	6	20				
MAGEB2	4113	broad.mit.edu	37	X	30236898	30236898	+	Silent	SNP	C	C	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:30236898C>A	ENST00000378988.4	+	2	302	c.201C>A	c.(199-201)acC>acA	p.T67T		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	67										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGCCCCAACCACTGCCGCTG	0.562																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(199-201)acC>acA		melanoma antigen family B, 2							12.0	11.0	11.0					X																	30236898		2187	4269	6456	SO:0001819	synonymous_variant	4113						protein binding	g.chrX:30236898C>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.201C>A	X.37:g.30236898C>A							p.T67T	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	302	+			67					O75860	Silent	SNP	ENST00000378988.4	37	c.201C>A	CCDS14219.1																																																																																				0.562	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		5	9	1	0	0.014758	1	0.014758	5	9				
AMER1	139285	broad.mit.edu	37	X	63410058	63410058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:63410058G>A	ENST00000330258.3	-	2	3381	c.3109C>T	c.(3109-3111)Cag>Tag	p.Q1037*	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1037	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GCCTGTGGCTGGAGGTTATAG	0.597																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(3109-3111)Cag>Tag		APC membrane recruitment protein 1							27.0	33.0	31.0					X																	63410058		2060	4183	6243	SO:0001587	stop_gained	139285							g.chrX:63410058G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3109C>T	X.37:g.63410058G>A	ENSP00000329117:p.Gln1037*					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.Q1037*	NM_152424.3	NP_689637.3					2	3381	-								A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	c.3109C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	39	7.395706	0.98258	.	.	ENSG00000184675	ENST00000330258	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.29723	N	0.838525	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4416	10.1914	0.43028	0.0:0.1969:0.8031:0.0	.	.	.	.	X	1037	.	.	Q	-	1	0	FAM123B	63326783	0.467000	0.25831	0.181000	0.23098	0.170000	0.22686	1.545000	0.36169	2.349000	0.79799	0.529000	0.55759	CAG		0.597	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		3	21	0	0	0	1	0	3	21				
EEF2K	29904	broad.mit.edu	37	16	22278135	22278135	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr16:22278135G>A	ENST00000263026.5	+	15	2176	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	568					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGAGGCCATCGTGGGCCTGGG	0.652																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(1702-1704)Gtg>Atg		eukaryotic elongation factor-2 kinase							105.0	82.0	90.0					16																	22278135		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22278135G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1702G>A	16.37:g.22278135G>A	ENSP00000263026:p.Val568Met						p.V568M	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	15	2176	+			568					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1702G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131829	0.77662	.	.	ENSG00000103319	ENST00000263026	T	0.55588	0.51	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);	0.053927	0.85682	D	0.000000	T	0.51041	0.1651	L	0.45581	1.43	0.58432	D	0.999999	P	0.46578	0.88	P	0.44561	0.453	T	0.54695	-0.8255	10	0.72032	D	0.01	-18.8095	13.4767	0.61312	0.0712:0.0:0.9288:0.0	.	568	O00418	EF2K_HUMAN	M	568	ENSP00000263026:V568M	ENSP00000263026:V568M	V	+	1	0	EEF2K	22185636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.690000	0.84178	2.806000	0.96561	0.655000	0.94253	GTG		0.652	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		18	64	0	0	0	1	0	18	64				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	148	0	0	0	1	0	4	148				
PLCD1	5333	broad.mit.edu	37	3	38050773	38050773	+	Silent	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:38050773G>A	ENST00000334661.4	-	10	1818	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Silent_p.L553L	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	532	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGATTCTTGGAGCAGTCGAA	0.612																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1657-1659)ctC>ctT		phospholipase C, delta 1							75.0	80.0	78.0					3																	38050773		2203	4300	6503	SO:0001819	synonymous_variant	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050773G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1596C>T	3.37:g.38050773G>A						PLCD1_ENST00000334661.4_Silent_p.L532L	p.L553L	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	10	2012	-			532			PI-PLC Y-box.		B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	c.1659C>T	CCDS2671.1																																																																																				0.612	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			27	126	0	0	0	1	0	27	126				
RHD	6007	broad.mit.edu	37	1	25627530	25627530	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:25627530G>A	ENST00000328664.4	+	4	735	c.580G>A	c.(580-582)Gga>Aga	p.G194R	RHD_ENST00000417538.2_Missense_Mutation_p.G194R|RHD_ENST00000568195.1_Missense_Mutation_p.G194R|RHD_ENST00000342055.5_Missense_Mutation_p.G194R|RHD_ENST00000423810.2_Missense_Mutation_p.G194R|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.G194R|RHD_ENST00000357542.4_Missense_Mutation_p.G194R	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	194						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTACCCGAGGGAACGGAGGA	0.532																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(580-582)Gga>Aga		Rh blood group, D antigen							220.0	151.0	176.0					1																	25627530		2120	3739	5859	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25627530G>A	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.580G>A	1.37:g.25627530G>A	ENSP00000331871:p.Gly194Arg					RHD_ENST00000342055.5_Missense_Mutation_p.G194R|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.G194R|RHD_ENST00000568195.1_Missense_Mutation_p.G194R|RHD_ENST00000454452.2_Missense_Mutation_p.G194R|RHD_ENST00000423810.2_Missense_Mutation_p.G194R|RHD_ENST00000357542.4_Missense_Mutation_p.G194R	p.G194R	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	735	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	194					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.580G>A	CCDS262.1	.	.	.	.	.	.	.	.	.	.	.	11.07	1.529449	0.27387	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	3.95	-0.576	0.11731	Ammonium transporter AmtB-like (3);	2.755210	0.00966	N	0.003178	T	0.31104	0.0786	N	0.24115	0.695	0.09310	N	1	B;B;D;B;B;B;B;B	0.65815	0.001;0.003;0.995;0.009;0.0;0.026;0.012;0.0	B;B;D;B;B;B;B;B	0.63283	0.008;0.014;0.913;0.021;0.005;0.01;0.021;0.005	T	0.39663	-0.9603	10	0.15066	T	0.55	15.1871	7.404	0.26981	0.4603:0.0:0.5397:0.0	.	194;194;194;194;194;194;194;194	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	R	194	ENSP00000331871:G194R;ENSP00000413849:G194R;ENSP00000339577:G194R;ENSP00000350150:G194R;ENSP00000396420:G194R;ENSP00000399640:G194R	ENSP00000331871:G194R	G	+	1	0	RHD	25500117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.746000	0.04829	-0.050000	0.13356	0.393000	0.25936	GGA		0.532	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		48	46	0	0	0	1	0	48	46				
PGM3	5238	broad.mit.edu	37	6	83896756	83896756	+	Missense_Mutation	SNP	C	C	T	rs80024877		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:83896756C>T	ENST00000283977.4	-	3	311	c.185G>A	c.(184-186)gGt>gAt	p.G62D	PGM3_ENST00000513973.1_Missense_Mutation_p.G143D|PGM3_ENST00000506587.1_Missense_Mutation_p.G171D|PGM3_ENST00000512866.1_Missense_Mutation_p.G143D					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AACAGTCACACCATCTATTAC	0.343																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(427-429)gGt>gAt		phosphoglucomutase 3							76.0	71.0	73.0					6																	83896756		2203	4300	6503	SO:0001583	missense	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83896756C>T	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.185G>A	6.37:g.83896756C>T	ENSP00000283977:p.Gly62Asp					PGM3_ENST00000506587.1_Missense_Mutation_p.G171D|PGM3_ENST00000512866.1_Missense_Mutation_p.G143D|PGM3_ENST00000283977.4_Missense_Mutation_p.G62D	p.G143D	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	4	544	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	143						Missense_Mutation	SNP	ENST00000283977.4	37	c.428G>A		.	.	.	.	.	.	.	.	.	.	C	18.86	3.712693	0.68730	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258;ENST00000507554	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.24	4.97	4.97	0.65823	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	D	0.87406	0.6169	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92148	0.5726	10	0.87932	D	0	-28.2816	18.2646	0.90049	0.0:1.0:0.0:0.0	.	171;171;143	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	D	143;143;62;171;62;143	ENSP00000424874:G143D;ENSP00000421565:G143D;ENSP00000283977:G62D;ENSP00000425809:G171D;ENSP00000427420:G62D;ENSP00000425558:G143D	ENSP00000283977:G62D	G	-	2	0	PGM3	83953475	1.000000	0.71417	0.823000	0.32752	0.194000	0.23727	7.304000	0.78882	2.297000	0.77311	0.655000	0.94253	GGT		0.343	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		10	13	0	0	0	1	0	10	13				
TENM2	57451	broad.mit.edu	37	5	167379743	167379743	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:167379743C>A	ENST00000518659.1	+	4	902	c.863C>A	c.(862-864)gCg>gAg	p.A288E	TENM2_ENST00000520393.1_3'UTR|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000519204.1_Missense_Mutation_p.A167E|TENM2_ENST00000520394.1_Missense_Mutation_p.A97E|TENM2_ENST00000545108.1_Missense_Mutation_p.A288E|TENM2_ENST00000403607.2_Missense_Mutation_p.A121E	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	288	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCGGCCCCAGCGCCCAATGAC	0.622																																						ENST00000519204.1																			0											c.(499-501)gCg>gAg		teneurin transmembrane protein 2							54.0	64.0	60.0					5																	167379743		2191	4278	6469	SO:0001583	missense	57451							g.chr5:167379743C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.863C>A	5.37:g.167379743C>A	ENSP00000429430:p.Ala288Glu					TENM2_ENST00000520394.1_Missense_Mutation_p.A97E|TENM2_ENST00000403607.2_Missense_Mutation_p.A121E|TENM2_ENST00000518659.1_Missense_Mutation_p.A288E|TENM2_ENST00000545108.1_Missense_Mutation_p.A288E|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520393.1_3'UTR	p.A167E							3	618	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.500C>A		.	.	.	.	.	.	.	.	.	.	C	13.01	2.108157	0.37242	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.34	4.47	0.54385	Teneurin intracellular, N-terminal (2);	0.199312	0.42821	D	0.000643	T	0.51126	0.1656	L	0.50333	1.59	0.44635	D	0.997616	P;D;P	0.63046	0.929;0.992;0.913	P;P;B	0.56216	0.644;0.794;0.434	T	0.49542	-0.8929	10	0.41790	T	0.15	.	13.9883	0.64350	0.0:0.9267:0.0:0.0733	.	288;97;167	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	E	288;288;167;97;121	ENSP00000429430:A288E;ENSP00000438635:A288E;ENSP00000428964:A167E;ENSP00000427874:A97E;ENSP00000384905:A121E	ENSP00000384905:A121E	A	+	2	0	ODZ2	167312321	0.999000	0.42202	0.144000	0.22314	0.004000	0.04260	3.879000	0.56138	1.258000	0.44101	-0.379000	0.06801	GCG		0.622	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	15	1	0	0.00116845	1	0.0012009	6	15				
ANKRD50	57182	broad.mit.edu	37	4	125591785	125591785	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:125591785G>T	ENST00000504087.1	-	4	3684	c.2647C>A	c.(2647-2649)Cct>Act	p.P883T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P704T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	883										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AATATGAAAGGGATTCGTCCA	0.373																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(2647-2649)Cct>Act		ankyrin repeat domain 50							151.0	149.0	150.0					4																	125591785		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591785G>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2647C>A	4.37:g.125591785G>T	ENSP00000425658:p.Pro883Thr					ANKRD50_ENST00000515641.1_Missense_Mutation_p.P704T	p.P883T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	3684	-			883					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2647C>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727167	0.30593	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.79940	-1.32;-1.32	5.13	4.29	0.51040	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	H	0.95470	3.675	0.52099	D	0.999949	P	0.42375	0.778	P	0.51101	0.659	D	0.90865	0.4741	10	0.87932	D	0	.	10.3212	0.43767	0.0736:0.1351:0.7913:0.0	.	883	Q9ULJ7	ANR50_HUMAN	T	883;704	ENSP00000425658:P883T;ENSP00000425355:P704T	ENSP00000425658:P883T	P	-	1	0	ANKRD50	125811235	1.000000	0.71417	0.490000	0.27465	0.991000	0.79684	5.973000	0.70456	1.391000	0.46566	0.561000	0.74099	CCT		0.373	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		24	90	1	0	6.44725e-10	1	6.81567e-10	24	90				
CUBN	8029	broad.mit.edu	37	10	17130272	17130272	+	Missense_Mutation	SNP	C	C	T	rs386833770		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:17130272C>T	ENST00000377833.4	-	15	1903	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	613	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAATCTCTTCCTGGGGGATA	0.443																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1837-1839)gGa>gAa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						93.0	85.0	88.0					10																	17130272		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17130272C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1838G>A	10.37:g.17130272C>T	ENSP00000367064:p.Gly613Glu						p.G613E	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			15	1903	-			613			CUB 2.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1838G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657693	0.67586	.	.	ENSG00000107611	ENST00000377833	T	0.29655	1.56	5.14	5.14	0.70334	CUB (5);	0.179663	0.27841	N	0.017634	T	0.31136	0.0787	L	0.45422	1.42	0.80722	D	1	P	0.48998	0.918	P	0.49953	0.627	T	0.02093	-1.1215	10	0.34782	T	0.22	.	6.5595	0.22479	0.0:0.7874:0.0:0.2126	.	613	O60494	CUBN_HUMAN	E	613	ENSP00000367064:G613E	ENSP00000367064:G613E	G	-	2	0	CUBN	17170278	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.982000	0.49337	2.676000	0.91093	0.655000	0.94253	GGA		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	56	0	0	0	1	0	6	56				
FNDC5	252995	broad.mit.edu	37	1	33333378	33333378	+	Missense_Mutation	SNP	C	C	T	rs189231805		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:33333378C>T	ENST00000373471.3	-	4	541	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	FNDC5_ENST00000609187.1_Missense_Mutation_p.V84I|FNDC5_ENST00000496770.1_Missense_Mutation_p.V84I	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	159					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGACCACGACGATGATCAGC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18559	0.001		0.0	False		,,,				2504	0.0					ENST00000373471.3																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(250-252)Gtc>Atc		fibronectin type III domain containing 5		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	201.0	160.0	174.0		250,250,250	4.2	0.3	1		174	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	FNDC5	NM_001171940.1,NM_001171941.1,NM_153756.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	84/107,84/154,84/138	33333378	2,13004	2203	4300	6503	SO:0001583	missense	252995					integral to membrane|peroxisomal membrane		g.chr1:33333378C>T	AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"""Fibronectin type III domain containing"""	20240	protein-coding gene	gene with protein product	"""irisin"""	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000373471.3:c.475G>A	1.37:g.33333378C>T	ENSP00000362570:p.Val159Ile						p.V84I	NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN			4	541	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	143			Fibronectin type-III.		A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Missense_Mutation	SNP	ENST00000373471.3	37	c.250G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.10	3.762296	0.69763	0.0	2.33E-4	ENSG00000160097	ENST00000373470;ENST00000373471	.	.	.	5.13	4.21	0.49690	.	0.128612	0.52532	N	0.000071	T	0.52419	0.1733	L	0.61218	1.895	0.51233	D	0.99991	B;B	0.33919	0.057;0.432	B;B	0.26094	0.012;0.066	T	0.57860	-0.7738	9	0.62326	D	0.03	-13.0377	13.6584	0.62352	0.0:0.9252:0.0:0.0748	.	84;143	Q8NAU1-3;Q8NAU1	.;FNDC5_HUMAN	I	84	.	ENSP00000362569:V84I	V	-	1	0	FNDC5	33105965	1.000000	0.71417	0.306000	0.25113	0.975000	0.68041	7.245000	0.78237	1.305000	0.44909	0.655000	0.94253	GTC		0.552	FNDC5-001	KNOWN	non_ATG_start|basic	protein_coding	protein_coding	OTTHUMT00000011467.3	NM_153756		37	23	0	0	0	1	0	37	23				
MRPL37	51253	broad.mit.edu	37	1	54681910	54681910	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:54681910G>A	ENST00000360840.5	+	6	1164	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	MRPL37_ENST00000605337.1_Missense_Mutation_p.D363N|MRPL37_ENST00000336230.6_Missense_Mutation_p.D232N	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	363					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GAATACCACAGACCTGGACTG	0.512																																						ENST00000605337.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.(1087-1089)Gac>Aac		mitochondrial ribosomal protein L37							153.0	128.0	137.0					1																	54681910		2203	4300	6503	SO:0001583	missense	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54681910G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1087G>A	1.37:g.54681910G>A	ENSP00000354086:p.Asp363Asn					MRPL37_ENST00000336230.6_Missense_Mutation_p.D232N|MRPL37_ENST00000360840.5_Missense_Mutation_p.D363N	p.D363N			Q9BZE1	RM37_HUMAN			6	1135	+			363					Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	c.1087G>A	CCDS589.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753999	0.49362	.	.	ENSG00000116221	ENST00000360840;ENST00000329505;ENST00000336230	T;T	0.16743	2.32;2.32	5.38	5.38	0.77491	.	0.196852	0.52532	D	0.000079	T	0.22437	0.0541	L	0.52206	1.635	0.58432	D	0.999995	P;P;B	0.45531	0.86;0.549;0.426	B;B;B	0.43950	0.437;0.263;0.207	T	0.01553	-1.1326	10	0.22109	T	0.4	-10.7773	19.1228	0.93371	0.0:0.0:1.0:0.0	.	232;300;363	A6NHR2;E9PB99;Q9BZE1	.;.;RM37_HUMAN	N	363;300;232	ENSP00000354086:D363N;ENSP00000338526:D232N	ENSP00000328799:D300N	D	+	1	0	MRPL37	54454498	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	6.328000	0.72915	2.504000	0.84457	0.455000	0.32223	GAC		0.512	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		30	49	0	0	0	1	0	30	49				
ANXA5	308	broad.mit.edu	37	4	122590823	122590823	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:122590823A>C	ENST00000296511.5	-	12	1122	c.837T>G	c.(835-837)atT>atG	p.I279M	ANXA5_ENST00000515017.1_Missense_Mutation_p.I179M|ANXA5_ENST00000501272.2_Missense_Mutation_p.I219M	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	279				I -> T (in Ref. 13; AAH18671). {ECO:0000305}.	blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TAAACAGATCAATCTCACTCC	0.358																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(835-837)atT>atG		annexin A5							105.0	108.0	107.0					4																	122590823		2203	4300	6503	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122590823A>C	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.837T>G	4.37:g.122590823A>C	ENSP00000296511:p.Ile279Met					ANXA5_ENST00000515017.1_Missense_Mutation_p.I179M|ANXA5_ENST00000501272.2_Missense_Mutation_p.I219M	p.I279M	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			12	1122	-			279	I -> T (in Ref. 13; AAH18671).				D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.837T>G	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447632	0.63178	.	.	ENSG00000164111	ENST00000296511;ENST00000501272;ENST00000515017	T;T;T	0.13307	2.6;2.6;2.6	6.06	-9.46	0.00597	Annexin repeat, conserved site (1);	0.274183	0.41712	D	0.000824	T	0.15825	0.0381	M	0.74881	2.28	0.28819	N	0.897815	P;B;P	0.34815	0.47;0.249;0.458	B;B;B	0.42738	0.323;0.37;0.396	T	0.14980	-1.0453	10	0.72032	D	0.01	.	10.0258	0.42070	0.2873:0.0804:0.5529:0.0793	.	179;219;279	D6RBE9;D6RBL5;P08758	.;.;ANXA5_HUMAN	M	279;219;179	ENSP00000296511:I279M;ENSP00000424106:I219M;ENSP00000424199:I179M	ENSP00000296511:I279M	I	-	3	3	ANXA5	122810273	0.236000	0.23804	0.678000	0.29963	0.931000	0.56810	-0.434000	0.06939	-1.108000	0.03000	0.533000	0.62120	ATT		0.358	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		24	52	0	0	0	1	0	24	52				
ARPP21	10777	broad.mit.edu	37	3	35729358	35729358	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:35729358T>C	ENST00000187397.4	+	6	845	c.389T>C	c.(388-390)aTc>aCc	p.I130T	ARPP21_ENST00000444190.1_Missense_Mutation_p.I130T|ARPP21_ENST00000417925.1_Missense_Mutation_p.I130T|ARPP21_ENST00000458225.1_Missense_Mutation_p.I130T|ARPP21_ENST00000337271.5_Missense_Mutation_p.I130T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	130					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAACCCAAGATCAGAATGTTA	0.338																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(388-390)aTc>aCc		cAMP-regulated phosphoprotein, 21kDa							109.0	117.0	114.0					3																	35729358		2203	4299	6502	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35729358T>C	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.389T>C	3.37:g.35729358T>C	ENSP00000187397:p.Ile130Thr					ARPP21_ENST00000417925.1_Missense_Mutation_p.I130T|ARPP21_ENST00000458225.1_Missense_Mutation_p.I130T|ARPP21_ENST00000444190.1_Missense_Mutation_p.I130T|ARPP21_ENST00000337271.5_Missense_Mutation_p.I130T	p.I130T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			6	845	+			130					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.389T>C	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	T	7.550	0.662435	0.14645	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.21932	2.01;1.98;1.98;1.99;2.01	5.69	3.18	0.36537	.	0.330675	0.29558	N	0.011817	T	0.09949	0.0244	N	0.14661	0.345	0.34858	D	0.742297	B;B;B	0.22146	0.063;0.065;0.029	B;B;B	0.18871	0.023;0.01;0.015	T	0.17561	-1.0365	9	.	.	.	-21.4555	6.9146	0.24354	0.1349:0.0757:0.0:0.7894	.	130;130;130	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	T	130	ENSP00000414351:I130T;ENSP00000337792:I130T;ENSP00000405276:I130T;ENSP00000187397:I130T;ENSP00000412326:I130T	.	I	+	2	0	ARPP21	35704362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.634000	0.46528	2.167000	0.68274	0.477000	0.44152	ATC		0.338	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		69	99	0	0	0	1	0	69	99				
CHST3	9469	broad.mit.edu	37	10	73767358	73767358	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:73767358A>T	ENST00000373115.4	+	3	1006	c.569A>T	c.(568-570)gAc>gTc	p.D190V		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	190					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GTGTACCGCGACGTGCTCAAG	0.652																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(568-570)gAc>gTc		carbohydrate (chondroitin 6) sulfotransferase 3							21.0	22.0	22.0					10																	73767358		2202	4299	6501	SO:0001583	missense	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767358A>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.569A>T	10.37:g.73767358A>T	ENSP00000362207:p.Asp190Val						p.D190V	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	1006	+			190					O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	c.569A>T	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473640	0.84640	.	.	ENSG00000122863	ENST00000373115	D	0.83755	-1.76	5.68	5.68	0.88126	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91754	0.7392	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92994	0.6417	10	0.87932	D	0	-48.4182	15.1166	0.72407	1.0:0.0:0.0:0.0	.	190	Q7LGC8	CHST3_HUMAN	V	190	ENSP00000362207:D190V	ENSP00000362207:D190V	D	+	2	0	CHST3	73437364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.179000	0.69175	0.459000	0.35465	GAC		0.652	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		5	26	0	0	0	1	0	5	26				
MUC16	94025	broad.mit.edu	37	19	9012504	9012504	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:9012504C>A	ENST00000397910.4	-	35	38905	c.38702G>T	c.(38701-38703)gGc>gTc	p.G12901V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12903	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACAGAAGGCCGACACTGGT	0.537																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38701-38703)gGc>gTc		mucin 16, cell surface associated							208.0	180.0	189.0					19																	9012504		2046	4188	6234	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9012504C>A	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.38702G>T	19.37:g.9012504C>A	ENSP00000381008:p.Gly12901Val						p.G12901V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			35	38905	-			12903			SEA 6.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38702G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.487376	0.26686	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.39056	1.1	2.95	2.95	0.34219	.	.	.	.	.	T	0.66218	0.2767	M	0.88310	2.945	.	.	.	D	0.89917	1.0	D	0.77004	0.989	T	0.77670	-0.2501	8	0.87932	D	0	-0.8845	10.003	0.41940	0.0:1.0:0.0:0.0	.	12901	B5ME49	.	V	12901;54	ENSP00000381008:G12901V	ENSP00000381008:G12901V	G	-	2	0	MUC16	8873504	0.006000	0.16342	0.005000	0.12908	0.007000	0.05969	2.238000	0.43070	1.594000	0.50039	0.313000	0.20887	GGC		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		40	106	1	0	4.14481e-20	1	4.44516e-20	40	106				
APAF1	317	broad.mit.edu	37	12	99106175	99106175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:99106175C>T	ENST00000551964.1	+	21	3656	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q931*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q963*|APAF1_ENST00000357310.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q920*|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	974					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCACATCTTCAGTACATTGC	0.348																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(2791-2793)Cag>Tag		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						118.0	106.0	110.0					12																	99106175		2203	4300	6503	SO:0001587	stop_gained	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99106175C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2920C>T	12.37:g.99106175C>T	ENSP00000448165:p.Gln974*					APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q920*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q963*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q931*|APAF1_ENST00000551964.1_Nonsense_Mutation_p.Q974*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q931*	p.Q931*	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			20	3368	+			974					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Nonsense_Mutation	SNP	ENST00000551964.1	37	c.2791C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	41	8.753346	0.98941	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.7	3.73	0.42828	.	0.543609	0.21909	N	0.067327	.	.	.	.	.	.	0.37599	D	0.920494	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2401	8.0586	0.30619	0.2685:0.5913:0.1402:0.0	.	.	.	.	X	974;920;931;931;963;931;931	.	ENSP00000341830:Q931X	Q	+	1	0	APAF1	97630306	0.997000	0.39634	0.998000	0.56505	0.236000	0.25371	0.356000	0.20181	1.365000	0.46057	0.650000	0.86243	CAG		0.348	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		16	14	0	0	0	1	0	16	14				
COL3A1	1281	broad.mit.edu	37	2	189854844	189854844	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:189854844G>A	ENST00000304636.3	+	9	883	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R238Q	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	238	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGACCCGGACGACCTGGAGAG	0.388																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(712-714)cGa>cAa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						69.0	72.0	71.0					2																	189854844		2202	4300	6502	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189854844G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.713G>A	2.37:g.189854844G>A	ENSP00000304408:p.Arg238Gln					COL3A1_ENST00000317840.5_Missense_Mutation_p.R238Q	p.R238Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		9	883	+			238			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.713G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892385	0.72524	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93811	-3.29;-3.29	5.68	5.68	0.88126	.	0.000000	0.42420	D	0.000707	D	0.93028	0.7781	N	0.20685	0.6	0.42985	D	0.994475	D	0.64830	0.994	D	0.63192	0.912	D	0.90303	0.4331	10	0.17369	T	0.5	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	238	P02461	CO3A1_HUMAN	Q	238	ENSP00000304408:R238Q;ENSP00000315243:R238Q	ENSP00000304408:R238Q	R	+	2	0	COL3A1	189563089	0.998000	0.40836	0.982000	0.44146	0.937000	0.57800	4.929000	0.63455	2.838000	0.97847	0.591000	0.81541	CGA		0.388	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		13	29	0	0	0	1	0	13	29				
MAGI1	9223	broad.mit.edu	37	3	65425585	65425585	+	Silent	SNP	C	C	T	rs374381483		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58.0	58.0	58.0					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		4	159	0	0	0	1	0	4	159				
PHLPP1	23239	broad.mit.edu	37	18	60609112	60609112	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:60609112T>A	ENST00000262719.5	+	11	3356	c.3122T>A	c.(3121-3123)cTt>cAt	p.L1041H	PHLPP1_ENST00000400316.4_Missense_Mutation_p.L529H			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1041					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TTGAAGATCCTTCACATGGCC	0.408																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(1585-1587)cTt>cAt		PH domain and leucine rich repeat protein phosphatase 1							68.0	65.0	66.0					18																	60609112		1876	4111	5987	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60609112T>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3122T>A	18.37:g.60609112T>A	ENSP00000262719:p.Leu1041His					PHLPP1_ENST00000262719.5_Missense_Mutation_p.L1041H	p.L529H	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			11	3367	+			1041					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.1586T>A	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706504	0.89018	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	D;D	0.81908	-1.55;-1.55	4.91	4.91	0.64330	.	.	.	.	.	D	0.94391	0.8196	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96351	0.9258	9	0.87932	D	0	-11.5588	14.7109	0.69232	0.0:0.0:0.0:1.0	.	1041	O60346	PHLP1_HUMAN	H	529;1041	ENSP00000383170:L529H;ENSP00000262719:L1041H	ENSP00000262719:L1041H	L	+	2	0	PHLPP1	58760092	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.653000	0.83643	2.056000	0.61249	0.477000	0.44152	CTT		0.408	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		20	18	0	0	0	1	0	20	18				
SPTA1	6708	broad.mit.edu	37	1	158621165	158621165	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:158621165T>A	ENST00000368147.4	-	24	3649	c.3469A>T	c.(3469-3471)Atc>Ttc	p.I1157F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1157					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTGCCGGATTTGAGCTCCT	0.453																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3469-3471)Atc>Ttc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							198.0	197.0	197.0					1																	158621165		1880	4109	5989	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158621165T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3469A>T	1.37:g.158621165T>A	ENSP00000357129:p.Ile1157Phe					SPTA1_ENST00000368147.3_Missense_Mutation_p.I1157F	p.I1157F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			24	3649	-	all_hematologic(112;0.0378)		1157					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3469A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503487	0.44558	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50277	0.75;0.75	4.66	3.51	0.40186	.	.	.	.	.	T	0.39306	0.1073	M	0.82517	2.595	0.32074	N	0.594051	B	0.34255	0.445	P	0.46940	0.532	T	0.45264	-0.9273	9	0.10902	T	0.67	.	8.5306	0.33333	0.0:0.0:0.1957:0.8043	.	1157	P02549	SPTA1_HUMAN	F	1157	ENSP00000357130:I1157F;ENSP00000357129:I1157F	ENSP00000357129:I1157F	I	-	1	0	SPTA1	156887789	0.610000	0.26983	0.066000	0.19879	0.424000	0.31475	0.792000	0.26929	0.896000	0.36366	0.533000	0.62120	ATC		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		87	134	0	0	0	1	0	87	134				
COL7A1	1294	broad.mit.edu	37	3	48613108	48613108	+	Missense_Mutation	SNP	C	C	T	rs182669506	byFrequency	TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:48613108C>T	ENST00000328333.8	-	72	6037	c.5930G>A	c.(5929-5931)cGt>cAt	p.R1977H	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1945H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1977	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGCCTCGACGCCGTTCGGG	0.652																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(5929-5931)cGt>cAt		collagen, type VII, alpha 1							50.0	51.0	50.0					3																	48613108		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48613108C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5930G>A	3.37:g.48613108C>T	ENSP00000332371:p.Arg1977His					COL7A1_ENST00000454817.1_Missense_Mutation_p.R1945H	p.R1977H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	72	6037	-			1977			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.5930G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613179	0.28712	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.85861	-2.04;-2.02	4.64	1.74	0.24563	.	0.751302	0.10781	N	0.634869	T	0.81631	0.4863	M	0.69823	2.125	0.09310	N	1	P	0.36837	0.571	B	0.35114	0.196	T	0.69807	-0.5045	10	0.42905	T	0.14	.	6.6248	0.22823	0.2253:0.6214:0.0:0.1533	.	1977	Q02388	CO7A1_HUMAN	H	1977;1945	ENSP00000332371:R1977H;ENSP00000412569:R1945H	ENSP00000332371:R1977H	R	-	2	0	COL7A1	48588112	0.000000	0.05858	0.069000	0.20011	0.198000	0.23893	-0.137000	0.10389	0.573000	0.29400	0.655000	0.94253	CGT		0.652	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		23	90	0	0	0	1	0	23	90				
COL11A2	1302	broad.mit.edu	37	6	33135298	33135298	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:33135298C>T	ENST00000374708.4	-	54	4027	c.3769G>A	c.(3769-3771)Gct>Act	p.A1257T	COL11A2_ENST00000374714.1_Missense_Mutation_p.A1317T|COL11A2_ENST00000361917.1_Missense_Mutation_p.A1236T|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1322T|COL11A2_ENST00000395197.1_Missense_Mutation_p.A1283T|COL11A2_ENST00000374712.1_Missense_Mutation_p.A1262T|COL11A2_ENST00000374713.1_Missense_Mutation_p.A1296T|COL11A2_ENST00000341947.2_Missense_Mutation_p.A1343T|COL11A2_ENST00000477772.1_Intron	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1343	Triple-helical region.			T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034). {ECO:0000305}.	cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCACCTATAGCGCCAGGATCT	0.652																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(4027-4029)Gct>Act		collagen, type XI, alpha 2							29.0	28.0	29.0					6																	33135298		1508	2708	4216	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33135298C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3769G>A	6.37:g.33135298C>T	ENSP00000363840:p.Ala1257Thr					COL11A2_ENST00000374714.1_Missense_Mutation_p.A1317T|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1322T|COL11A2_ENST00000361917.1_Missense_Mutation_p.A1236T|COL11A2_ENST00000395197.1_Missense_Mutation_p.A1283T|COL11A2_ENST00000374708.4_Missense_Mutation_p.A1257T|COL11A2_ENST00000374712.1_Missense_Mutation_p.A1262T|COL11A2_ENST00000374713.1_Missense_Mutation_p.A1296T|COL11A2_ENST00000477772.1_Intron	p.A1343T	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			56	4254	-			1343			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4027G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649819	0.14516	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.94330	-3.27;-3.4;-3.4;-3.4;-3.4;-3.27;-3.4;-3.4	4.09	3.19	0.36642	.	0.213209	0.38720	N	0.001586	T	0.72382	0.3453	N	0.12663	0.25	0.46901	D	0.999246	P;P;P	0.36768	0.472;0.472;0.569	B;B;B	0.29077	0.098;0.098;0.045	T	0.72197	-0.4363	10	0.18276	T	0.48	.	10.7468	0.46185	0.1913:0.8087:0.0:0.0	.	1236;1257;1343	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	T	1257;1343;1322;1317;1296;1283;1262;1236	ENSP00000363840:A1257T;ENSP00000339915:A1343T;ENSP00000350079:A1322T;ENSP00000363846:A1317T;ENSP00000363845:A1296T;ENSP00000378623:A1283T;ENSP00000363844:A1262T;ENSP00000355123:A1236T	ENSP00000339915:A1343T	A	-	1	0	COL11A2	33243276	0.745000	0.28261	0.998000	0.56505	0.053000	0.15095	0.728000	0.26013	0.895000	0.36342	0.442000	0.29010	GCT		0.652	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			20	25	0	0	0	1	0	20	25				
TRPM6	140803	broad.mit.edu	37	9	77407599	77407599	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:77407599A>C	ENST00000360774.1	-	19	2716	c.2479T>G	c.(2479-2481)Tgg>Ggg	p.W827G	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.W822G|TRPM6_ENST00000449912.2_Missense_Mutation_p.W822G|TRPM6_ENST00000451710.3_Missense_Mutation_p.W827G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.W827G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	827					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCCTGGTCCACGGAAGGTGT	0.388																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2479-2481)Tgg>Ggg		transient receptor potential cation channel, subfamily M, member 6							142.0	122.0	129.0					9																	77407599		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77407599A>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2479T>G	9.37:g.77407599A>C	ENSP00000354006:p.Trp827Gly					TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.W827G|TRPM6_ENST00000449912.2_Missense_Mutation_p.W822G|TRPM6_ENST00000376864.4_Missense_Mutation_p.W827G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.W822G	p.W827G			Q9BX84	TRPM6_HUMAN			19	2716	-			827					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2479T>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	0.908	-0.719955	0.03182	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.88	3.35	0.38373	.	0.421933	0.29321	N	0.012484	T	0.40171	0.1106	N	0.14661	0.345	0.28898	N	0.893468	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.29119	-1.0022	10	0.54805	T	0.06	.	6.5016	0.22172	0.5864:0.2092:0.0:0.2044	.	827;822	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	G	827;827;822;822;827;490;490	ENSP00000354006:W827G;ENSP00000407341:W827G;ENSP00000396672:W822G;ENSP00000354962:W822G;ENSP00000366060:W827G	ENSP00000309693:W490G	W	-	1	0	TRPM6	76597419	0.000000	0.05858	0.992000	0.48379	0.134000	0.20937	0.551000	0.23361	2.253000	0.74438	0.519000	0.50382	TGG		0.388	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		20	24	0	0	0	1	0	20	24				
USH2A	7399	broad.mit.edu	37	1	216390848	216390848	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:216390848G>A	ENST00000307340.3	-	15	3424	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I	USH2A_ENST00000366943.2_Missense_Mutation_p.T1013I|USH2A_ENST00000366942.3_Missense_Mutation_p.T1013I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1013	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGTGACAGGTTTCATTCAA	0.398										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3037-3039)aCc>aTc		Usher syndrome 2A (autosomal recessive, mild)							81.0	75.0	77.0					1																	216390848		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216390848G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3038C>T	1.37:g.216390848G>A	ENSP00000305941:p.Thr1013Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T1013I|USH2A_ENST00000366942.3_Missense_Mutation_p.T1013I	p.T1013I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	15	3424	-			1013			Laminin EGF-like 10.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3038C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490146	0.64074	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62232	0.04;0.04;0.04	5.22	3.12	0.35913	EGF-like, laminin (3);	0.176607	0.26272	U	0.025324	T	0.66005	0.2746	L	0.28649	0.875	0.37872	D	0.930108	B;D	0.60160	0.292;0.987	B;P	0.61592	0.234;0.891	T	0.70048	-0.4979	10	0.38643	T	0.18	.	16.4698	0.84109	0.0:0.3675:0.6325:0.0	.	1013;1013	O75445-2;O75445	.;USH2A_HUMAN	I	1013	ENSP00000305941:T1013I;ENSP00000355910:T1013I;ENSP00000355909:T1013I	ENSP00000305941:T1013I	T	-	2	0	USH2A	214457471	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.136000	0.50554	1.136000	0.42199	0.591000	0.81541	ACC		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		26	26	0	0	0	1	0	26	26				
RAB38	23682	broad.mit.edu	37	11	87882875	87882875	+	Missense_Mutation	SNP	C	C	T	rs143951992	byFrequency	TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:87882875C>T	ENST00000243662.6	-	2	533	c.451G>A	c.(451-453)Ggt>Agt	p.G151S		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	151					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCTACGAAACCGTGCTCCTTG	0.413													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21749	0.0		0.0	False		,,,				2504	0.0					ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(451-453)Ggt>Agt		RAB38, member RAS oncogene family		C	SER/GLY	4,4398	8.1+/-20.4	0,4,2197	152.0	125.0	134.0		451	5.5	1.0	11	dbSNP_134	134	0,8598		0,0,4299	yes	missense	RAB38	NM_022337.2	56	0,4,6496	TT,TC,CC		0.0,0.0909,0.0308	possibly-damaging	151/212	87882875	4,12996	2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87882875C>T	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.451G>A	11.37:g.87882875C>T	ENSP00000243662:p.Gly151Ser						p.G151S	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			2	533	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	151					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.451G>A	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.031588|5.031588	0.93575|0.93575	9.09E-4|9.09E-4	0.0|0.0	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	D|.	0.81821|.	-1.54|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73877|0.73877	0.3643|0.3643	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.63793|.	0.918|.	T|T	0.71500|0.71500	-0.4574|-0.4574	9|5	.|.	.|.	.|.	-4.6492|-4.6492	19.3324|19.3324	0.94297|0.94297	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	151|.	P57729|.	RAB38_HUMAN|.	S|Q	151|149	ENSP00000243662:G151S|.	.|.	G|R	-|-	1|2	0|0	RAB38|RAB38	87522523|87522523	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.763000|0.763000	0.43281|0.43281	7.395000|7.395000	0.79876|0.79876	2.571000|2.571000	0.86741|0.86741	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.413	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			22	109	0	0	0	1	0	22	109				
NET1	10276	broad.mit.edu	37	10	5471142	5471142	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:5471142C>G	ENST00000355029.4	+	3	347	c.205C>G	c.(205-207)Cgc>Ggc	p.R69G	NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	69	Necessary for nuclear localization. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R69C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GAAAAGAAAACGCAGAGAGAA	0.323																																						ENST00000355029.4																			1	Substitution - Missense(1)	p.R69C(1)	endometrium(1)	breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(205-207)Cgc>Ggc		neuroepithelial cell transforming 1							90.0	87.0	88.0					10																	5471142		1814	4074	5888	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5471142C>G	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.205C>G	10.37:g.5471142C>G	ENSP00000347134:p.Arg69Gly					NET1_ENST00000542715.1_5'UTR	p.R69G	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			3	347	+			69			Necessary for nuclear localization (By similarity).		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.205C>G	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183441	0.57800	.	.	ENSG00000173848	ENST00000355029	T	0.14391	2.51	5.46	5.46	0.80206	.	0.000000	0.32901	N	0.005505	T	0.19127	0.0459	M	0.74881	2.28	0.80722	D	1	P	0.46621	0.881	B	0.38225	0.268	T	0.02781	-1.1111	10	0.87932	D	0	-13.1557	14.8097	0.69985	0.0:1.0:0.0:0.0	.	69	Q7Z628	ARHG8_HUMAN	G	69	ENSP00000347134:R69G	ENSP00000347134:R69G	R	+	1	0	NET1	5461142	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.319000	0.43788	2.577000	0.86979	0.650000	0.86243	CGC		0.323	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		6	113	0	0	0	1	0	6	113				
TCF7L2	6934	broad.mit.edu	37	10	114919686	114919686	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:114919686C>T	ENST00000355995.4	+	14	1884	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000369386.1_Silent_p.S85S|TCF7L2_ENST00000369397.4_Silent_p.S436S|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000534894.1_Silent_p.S459S|TCF7L2_ENST00000542695.1_Silent_p.S175S|TCF7L2_ENST00000536810.1_Silent_p.S442S|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.S436S|TCF7L2_ENST00000355717.4_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	459	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGACCTGAGCGCTCCTAAGA	0.542			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1375-1377)agC>agT		transcription factor 7-like 2 (T-cell specific, HMG-box)							68.0	63.0	65.0					10																	114919686		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114919686C>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1377C>T	10.37:g.114919686C>T						TCF7L2_ENST00000534894.1_Silent_p.S459S|TCF7L2_ENST00000536810.1_Silent_p.S442S|TCF7L2_ENST00000369397.4_Silent_p.S436S|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369386.1_Silent_p.S85S|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.S436S|TCF7L2_ENST00000542695.1_Silent_p.S175S|TCF7L2_ENST00000543371.1_Intron	p.S459S			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	14	1884	+		Breast(234;0.058)|Colorectal(252;0.0615)	459			Promoter-specific activation domain.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.1377C>T																																																																																					0.542	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		23	21	0	0	0	1	0	23	21				
PUS7L	83448	broad.mit.edu	37	12	44124455	44124455	+	Silent	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:44124455T>C	ENST00000416848.2	-	9	2318	c.1830A>G	c.(1828-1830)gtA>gtG	p.V610V	PUS7L_ENST00000431332.3_Silent_p.V297V|PUS7L_ENST00000551923.1_Silent_p.V610V|PUS7L_ENST00000344862.5_Silent_p.V610V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	610	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACCACTGCCCTACTTTGTTCT	0.383																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1828-1830)gtA>gtG		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							115.0	108.0	110.0					12																	44124455		2203	4300	6503	SO:0001819	synonymous_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44124455T>C	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1830A>G	12.37:g.44124455T>C						PUS7L_ENST00000551923.1_Silent_p.V610V|PUS7L_ENST00000344862.5_Silent_p.V610V|PUS7L_ENST00000431332.3_Silent_p.V297V	p.V610V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	9	2318	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	610			TRUD.		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	c.1830A>G	CCDS8743.1																																																																																				0.383	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		30	33	0	0	0	1	0	30	33				
HELQ	113510	broad.mit.edu	37	4	84348767	84348767	+	Silent	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:84348767G>A	ENST00000295488.3	-	13	2787	c.2625C>T	c.(2623-2625)ccC>ccT	p.P875P	HELQ_ENST00000510985.1_Silent_p.P808P	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	875					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCAGATCATAGGGGGTTGTTA	0.373								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(2623-2625)ccC>ccT	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							104.0	103.0	103.0					4																	84348767		2203	4300	6503	SO:0001819	synonymous_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84348767G>A	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2625C>T	4.37:g.84348767G>A						HELQ_ENST00000510985.1_Silent_p.P808P	p.P875P	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			13	2787	-			875					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.2625C>T	CCDS3603.1																																																																																				0.373	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		59	40	0	0	0	1	0	59	40				
FBXW7	55294	broad.mit.edu	37	4	153250867	153250867	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:153250867G>A	ENST00000281708.4	-	8	2422	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	FBXW7_ENST00000263981.5_Missense_Mutation_p.S318F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S280F|FBXW7_ENST00000603548.1_Missense_Mutation_p.S398F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S398F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S222F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	398					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTTGTCATCAGAACCACTAAC	0.358			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1192-1194)tCt>tTt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							117.0	106.0	109.0					4																	153250867		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153250867G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1193C>T	4.37:g.153250867G>A	ENSP00000281708:p.Ser398Phe					FBXW7_ENST00000603548.1_Missense_Mutation_p.S398F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S398F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S222F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S318F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S280F	p.S398F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			8	2422	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	398					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1193C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707795	0.89018	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	D	0.92746	0.6212	10	0.62326	D	0.03	-12.127	20.5373	0.99239	0.0:0.0:1.0:0.0	.	222;398;280;318	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	F	398;280;318;222	ENSP00000281708:S398F;ENSP00000296555:S280F;ENSP00000263981:S318F;ENSP00000377528:S222F	ENSP00000263981:S318F	S	-	2	0	FBXW7	153470317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.865000	0.99609	2.857000	0.98124	0.650000	0.86243	TCT		0.358	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			59	28	0	0	0	1	0	59	28				
DCTN1	1639	broad.mit.edu	37	2	74604816	74604816	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:74604816G>A	ENST00000361874.3	-	3	634	c.317C>T	c.(316-318)cCa>cTa	p.P106L	DCTN1_ENST00000409240.1_Missense_Mutation_p.P89L|DCTN1_ENST00000394003.3_Missense_Mutation_p.P106L|DCTN1_ENST00000407639.2_5'Flank|DCTN1_ENST00000409567.3_Missense_Mutation_p.P106L|DCTN1_ENST00000409438.1_5'Flank|DCTN1_ENST00000409868.1_Missense_Mutation_p.P89L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	106					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGGTGTCTCTGGGGAAGTAGT	0.463																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(316-318)cCa>cTa		dynactin 1							150.0	152.0	152.0					2																	74604816		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74604816G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.317C>T	2.37:g.74604816G>A	ENSP00000354791:p.Pro106Leu					DCTN1_ENST00000409567.3_Missense_Mutation_p.P106L|DCTN1_ENST00000409240.1_Missense_Mutation_p.P89L|DCTN1_ENST00000394003.3_Missense_Mutation_p.P106L|DCTN1_ENST00000409868.1_Missense_Mutation_p.P89L	p.P106L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			3	634	-			106					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.317C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287549	0.95517	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090	T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.17	5.17	0.71159	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.42964	D	0.000631	T	0.78654	0.4317	N	0.24115	0.695	0.80722	D	1	D;B;D;D	0.89917	1.0;0.013;1.0;0.993	D;B;D;P	0.87578	0.998;0.035;0.994;0.838	T	0.79032	-0.1969	10	0.44086	T	0.13	-4.5159	17.5724	0.87939	0.0:0.0:1.0:0.0	.	106;89;106;106	E9PGE1;E9PFS5;Q14203;A8MY36	.;.;DCTN1_HUMAN;.	L	106;106;89;89;89;106;113;89;110	ENSP00000354791:P106L;ENSP00000377571:P106L;ENSP00000386406:P89L;ENSP00000387327:P89L;ENSP00000386843:P106L;ENSP00000414315:P113L;ENSP00000404038:P89L;ENSP00000402509:P110L	ENSP00000354791:P106L	P	-	2	0	DCTN1	74458324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.112000	0.94314	2.680000	0.91292	0.655000	0.94253	CCA		0.463	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		21	100	0	0	0	1	0	21	100				
HMGCL	3155	broad.mit.edu	37	1	24147025	24147025	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:24147025G>C	ENST00000374490.3	-	2	162	c.119C>G	c.(118-120)cCc>cGc	p.P40R	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.P40R|HMGCL_ENST00000374483.4_Missense_Mutation_p.P15R	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	40					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TCCATCTCGGGGACCAACTTC	0.393																																						ENST00000374483.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(43-45)cCc>cGc		3-hydroxymethyl-3-methylglutaryl-CoA lyase							164.0	144.0	151.0					1																	24147025		2203	4300	6503	SO:0001583	missense	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24147025G>C	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.119C>G	1.37:g.24147025G>C	ENSP00000363614:p.Pro40Arg					HMGCL_ENST00000374490.3_Missense_Mutation_p.P40R|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.P40R	p.P15R			P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	3	715	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	40					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	37	c.44C>G	CCDS243.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.858774|4.858774	0.91433|0.91433	.|.	.|.	ENSG00000117305|ENSG00000117305	ENST00000235958|ENST00000374490;ENST00000436439;ENST00000374483;ENST00000543166	D|D;D;D	0.98617|0.98701	-5.03|-4.86;-5.08;-4.86	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (1);	0.139699|0.139699	0.64402|0.64402	N|D	0.000002|0.000002	D|D	0.97745|0.97745	0.9260|0.9260	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.89917	.|0.875;1.0;1.0;1.0	.|P;D;D;D	.|0.83275	.|0.894;0.996;0.996;0.996	D|D	0.99884|0.99884	1.1118|1.1118	8|10	0.38643|0.87932	T|D	0.18|0	-40.4961|-40.4961	17.8928|17.8928	0.88877|0.88877	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|40;40;15;40	.|B4DUP4;Q6IBC0;B1AK13;P35914	.|.;.;.;HMGCL_HUMAN	A|R	36|40;40;15;15	ENSP00000235958:P36A|ENSP00000363614:P40R;ENSP00000389281:P40R;ENSP00000363607:P15R	ENSP00000235958:P36A|ENSP00000363607:P15R	P|P	-|-	1|2	0|0	HMGCL|HMGCL	24019612|24019612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.891000|8.891000	0.92485|0.92485	2.759000|2.759000	0.94783|0.94783	0.558000|0.558000	0.71614|0.71614	CCC|CCC		0.393	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		18	46	0	0	0	1	0	18	46				
FNDC9	408263	broad.mit.edu	37	5	156769995	156769995	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:156769995G>A	ENST00000312349.4	-	2	737	c.550C>T	c.(550-552)Cca>Tca	p.P184S	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	184						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TTCTTGCGTGGCATTTCCACC	0.632											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(550-552)Cca>Tca		fibronectin type III domain containing 9							75.0	79.0	78.0					5																	156769995		2203	4300	6503	SO:0001583	missense	408263					integral to membrane		g.chr5:156769995G>A	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.550C>T	5.37:g.156769995G>A	ENSP00000310594:p.Pro184Ser		OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000522463.1_Intron	p.P184S	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN			2	737	-			184					A8K0Y6	Missense_Mutation	SNP	ENST00000312349.4	37	c.550C>T	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084072	0.55861	.	.	ENSG00000172568	ENST00000312349	T	0.61859	0.07	5.08	5.08	0.68730	.	0.335374	0.24422	N	0.038674	T	0.47340	0.1440	N	0.19112	0.55	0.30785	N	0.741546	B	0.30634	0.288	B	0.36244	0.22	T	0.53788	-0.8389	10	0.37606	T	0.19	-6.0236	15.6411	0.77001	0.0:0.0:1.0:0.0	.	184	Q8TBE3	FNDC9_HUMAN	S	184	ENSP00000310594:P184S	ENSP00000310594:P184S	P	-	1	0	FNDC9	156702573	0.957000	0.32711	0.977000	0.42913	0.454000	0.32378	4.434000	0.59935	2.369000	0.80426	0.491000	0.48974	CCA		0.632	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		4	101	0	0	0	1	0	4	101				
ADAMTS8	11095	broad.mit.edu	37	11	130289058	130289058	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:130289058C>T	ENST00000257359.6	-	2	1556	c.850G>A	c.(850-852)Gac>Aac	p.D284N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCCCATTGTCGGACACCTCT	0.552																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(850-852)Gac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 8							152.0	160.0	157.0					11																	130289058		1980	4171	6151	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130289058C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.850G>A	11.37:g.130289058C>T	ENSP00000257359:p.Asp284Asn						p.D284N	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1556	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	284			Peptidase M12B.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.850G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876548	0.33162	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.86627	-2.15	5.62	4.68	0.58851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.173127	0.64402	D	0.000007	T	0.79805	0.4509	L	0.31420	0.93	0.38909	D	0.957488	P	0.34757	0.467	B	0.30855	0.121	T	0.77760	-0.2467	10	0.25751	T	0.34	.	16.3103	0.82865	0.0:0.8675:0.1325:0.0	.	284	Q9UP79	ATS8_HUMAN	N	284;313	ENSP00000257359:D284N	ENSP00000257359:D284N	D	-	1	0	ADAMTS8	129794268	0.947000	0.32204	0.793000	0.32043	0.544000	0.35116	1.907000	0.39897	1.308000	0.44962	0.655000	0.94253	GAC		0.552	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		63	336	0	0	0	1	0	63	336				
MCHR1	2847	broad.mit.edu	37	22	41077056	41077056	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr22:41077056C>T	ENST00000249016.4	+	2	1089	c.393C>T	c.(391-393)atC>atT	p.I131I	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.I131I	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	131					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCACGGTCATCTTCGCGGTCG	0.557																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(391-393)atC>atT		melanin-concentrating hormone receptor 1							168.0	134.0	145.0					22																	41077056		2203	4300	6503	SO:0001819	synonymous_variant	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077056C>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.393C>T	22.37:g.41077056C>T						MCHR1_ENST00000381433.2_Silent_p.I131I|MCHR1_ENST00000498400.1_3'UTR	p.I131I	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1089	+			131					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.393C>T	CCDS14004.1																																																																																				0.557	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		21	58	0	0	0	1	0	21	58				
OTOP1	133060	broad.mit.edu	37	4	4204203	4204203	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:4204203G>C	ENST00000296358.4	-	4	726	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	234					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACCCAGAGTGATGAGCCGTT	0.517																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(700-702)atC>atG		otopetrin 1							133.0	115.0	121.0					4																	4204203		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204203G>C	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.702C>G	4.37:g.4204203G>C	ENSP00000296358:p.Ile234Met						p.I234M	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	726	-			234					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.702C>G	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200503	0.09652	.	.	ENSG00000163982	ENST00000296358	T	0.08634	3.07	5.28	2.41	0.29592	.	0.292428	0.36932	N	0.002322	T	0.04048	0.0113	N	0.08118	0	0.43885	D	0.996508	P	0.35684	0.515	B	0.33392	0.163	T	0.50346	-0.8839	10	0.51188	T	0.08	.	8.8831	0.35387	0.1311:0.2683:0.6006:0.0	.	234	Q7RTM1	OTOP1_HUMAN	M	234	ENSP00000296358:I234M	ENSP00000296358:I234M	I	-	3	3	OTOP1	4255104	0.985000	0.35326	0.897000	0.35233	0.184000	0.23303	0.205000	0.17356	1.196000	0.43129	0.603000	0.83216	ATC		0.517	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		29	78	0	0	0	1	0	29	78				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	78	0	0	0	1	0	4	78				
SPATA16	83893	broad.mit.edu	37	3	172835309	172835309	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:172835309T>A	ENST00000351008.3	-	2	396	c.213A>T	c.(211-213)gaA>gaT	p.E71D		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	71					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGCTTTGTTTTTCTTTGATGC	0.368																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(211-213)gaA>gaT		spermatogenesis associated 16							350.0	331.0	338.0					3																	172835309		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835309T>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.213A>T	3.37:g.172835309T>A	ENSP00000341765:p.Glu71Asp						p.E71D	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	396	-	Ovarian(172;0.00319)|Breast(254;0.197)		71					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.213A>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974821	0.53720	.	.	ENSG00000144962	ENST00000351008	T	0.23147	1.92	5.27	2.86	0.33363	.	0.000000	0.56097	D	0.000037	T	0.24198	0.0586	L	0.29908	0.895	0.30443	N	0.775987	P	0.49559	0.925	P	0.49597	0.616	T	0.09796	-1.0658	10	0.87932	D	0	-14.3152	8.5244	0.33296	0.0:0.1575:0.0:0.8425	.	71	Q9BXB7	SPT16_HUMAN	D	71	ENSP00000341765:E71D	ENSP00000341765:E71D	E	-	3	2	SPATA16	174318003	0.833000	0.29383	1.000000	0.80357	0.993000	0.82548	-0.396000	0.07278	0.836000	0.34901	-0.280000	0.10049	GAA		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		29	210	0	0	0	1	0	29	210				
MLLT4	4301	broad.mit.edu	37	6	168344722	168344722	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:168344722C>G	ENST00000447894.2	+	25	3320	c.3320C>G	c.(3319-3321)tCc>tGc	p.S1107C	MLLT4_ENST00000351017.4_Missense_Mutation_p.S1114C|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1090C|MLLT4_ENST00000366806.2_Missense_Mutation_p.S1107C|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1107C|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1106C|MLLT4_ENST00000344191.4_Missense_Mutation_p.S1107C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1107					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AATCAGCCATCCCCCATGATG	0.517			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3319-3321)tCc>tGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							100.0	87.0	92.0					6																	168344722		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168344722C>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3320C>G	6.37:g.168344722C>G	ENSP00000404595:p.Ser1107Cys					MLLT4_ENST00000344191.4_Missense_Mutation_p.S1107C|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1114C|MLLT4_ENST00000447894.2_Missense_Mutation_p.S1107C|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1106C|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1090C|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1107C	p.S1107C			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	26	3462	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1107					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3320C>G		.	.	.	.	.	.	.	.	.	.	C	19.19	3.779609	0.70107	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.06371	3.5;3.4;3.51;3.49;3.31;3.4;3.4	4.92	4.92	0.64577	.	0.146713	0.45867	D	0.000331	T	0.18002	0.0432	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.78314	0.971;0.983;0.991;0.991	T	0.01345	-1.1379	10	0.87932	D	0	-9.3819	18.1291	0.89596	0.0:1.0:0.0:0.0	.	1107;1106;1107;1091	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	C	1107;1114;1107;1107;1090;1107;1106;1107	ENSP00000341118:S1107C;ENSP00000252692:S1114C;ENSP00000375956:S1107C;ENSP00000355771:S1107C;ENSP00000375960:S1090C;ENSP00000383623:S1106C;ENSP00000404595:S1107C	ENSP00000345834:S1107C	S	+	2	0	MLLT4	168087571	1.000000	0.71417	0.316000	0.25252	0.993000	0.82548	5.729000	0.68538	2.254000	0.74563	0.655000	0.94253	TCC		0.517	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		14	52	0	0	0	1	0	14	52				
CLUL1	27098	broad.mit.edu	37	18	641365	641365	+	Missense_Mutation	SNP	G	G	A	rs527661052		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:641365G>A	ENST00000400606.2	+	7	1178	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CLUL1_ENST00000540035.1_Missense_Mutation_p.E397K|CLUL1_ENST00000581619.1_Missense_Mutation_p.E370K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E345K|C18orf56_ENST00000585033.1_3'UTR|CLUL1_ENST00000338387.7_Missense_Mutation_p.E345K	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	345					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGAATTAGACGAGGCGATCAG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		19726	0.0		0.0	False		,,,				2504	0.001					ENST00000581619.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						c.(1108-1110)Gag>Aag		clusterin-like 1 (retinal)							132.0	120.0	124.0					18																	641365		1981	4179	6160	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:641365G>A	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1033G>A	18.37:g.641365G>A	ENSP00000383449:p.Glu345Lys					CLUL1_ENST00000400606.2_Missense_Mutation_p.E345K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E397K|C18orf56_ENST00000585033.1_3'UTR|CLUL1_ENST00000579494.1_Missense_Mutation_p.E345K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E345K	p.E370K			Q15846	CLUL1_HUMAN			7	1955	+			345					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.1108G>A	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041143	0.55003	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.25579	1.79;1.79;1.79	5.59	4.72	0.59763	Clusterin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.68952	2.095	0.80722	D	1	P;P	0.51351	0.944;0.944	B;B	0.43274	0.243;0.414	T	0.09100	-1.0690	10	0.44086	T	0.13	-17.3714	12.7351	0.57218	0.0762:0.0:0.9238:0.0	.	397;345	F5GWQ8;Q15846	.;CLUL1_HUMAN	K	345;397;345	ENSP00000383449:E345K;ENSP00000441726:E397K;ENSP00000341128:E345K	ENSP00000341128:E345K	E	+	1	0	CLUL1	631365	1.000000	0.71417	0.837000	0.33122	0.011000	0.07611	3.674000	0.54598	1.367000	0.46095	0.563000	0.77884	GAG		0.488	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			28	30	0	0	0	1	0	28	30				
ARHGEF3	50650	broad.mit.edu	37	3	56779411	56779411	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:56779411T>C	ENST00000296315.3	-	7	860	c.692A>G	c.(691-693)gAt>gGt	p.D231G	ARHGEF3_ENST00000413728.2_Missense_Mutation_p.D237G|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D202G|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D237G|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D231G|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D263G	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	231	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GACTCGGTGATCTTGCTTTTT	0.483																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(709-711)gAt>gGt		Rho guanine nucleotide exchange factor (GEF) 3							168.0	177.0	174.0					3																	56779411		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56779411T>C	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.692A>G	3.37:g.56779411T>C	ENSP00000296315:p.Asp231Gly					ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D263G|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D231G|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.D231G|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D237G|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D202G	p.D237G	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	7	1253	-			231			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.710A>G	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776842	0.90195	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.83953	2.67	0.80722	D	1	D;P;P;D;P;D;D	0.63880	0.993;0.955;0.944;0.987;0.944;0.987;0.983	D;P;P;P;P;D;P	0.67231	0.95;0.849;0.765;0.903;0.78;0.927;0.88	T	0.64537	-0.6384	10	0.72032	D	0.01	-11.1914	16.5479	0.84454	0.0:0.0:0.0:1.0	.	237;202;29;231;263;231;237	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	G	231;263;237;237;202;231	ENSP00000296315:D231G;ENSP00000341071:D263G;ENSP00000410922:D237G;ENSP00000420420:D237G;ENSP00000418826:D202G;ENSP00000417986:D231G	ENSP00000296315:D231G	D	-	2	0	ARHGEF3	56754451	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAT		0.483	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		131	313	0	0	0	1	0	131	313				
KDM6A	7403	broad.mit.edu	37	X	44922731	44922731	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:44922731C>T	ENST00000377967.4	+	16	1633	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	KDM6A_ENST00000536777.1_Missense_Mutation_p.S486L|KDM6A_ENST00000382899.4_Missense_Mutation_p.S538L|KDM6A_ENST00000543216.1_Missense_Mutation_p.S452L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	531	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACAGCTGACTCATCACTGCCT	0.522			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		8	Whole gene deletion(6)|No detectable mRNA/protein(2)	p.0?(6)|p.0(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1591-1593)tCa>tTa		lysine (K)-specific demethylase 6A							79.0	64.0	69.0					X																	44922731		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922731C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1592C>T	X.37:g.44922731C>T	ENSP00000367203:p.Ser531Leu					KDM6A_ENST00000543216.1_Missense_Mutation_p.S452L|KDM6A_ENST00000382899.4_Missense_Mutation_p.S538L|KDM6A_ENST00000536777.1_Missense_Mutation_p.S486L	p.S531L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			16	1633	+			531					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.1592C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.388771|4.388771	0.82902|0.82902	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000451692|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688	.|T;T;T;T	.|0.19669	.|2.13;2.15;2.17;2.16	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|0.127596	.|0.56097	.|D	.|0.000036	T|T	0.44644|0.44644	0.1303|0.1303	M|M	0.62723|0.62723	1.935|1.935	0.51767|0.51767	D|D	0.99993|0.99993	.|B;D;P;P;B;B	.|0.63046	.|0.164;0.992;0.917;0.928;0.099;0.104	.|B;D;P;P;B;B	.|0.71656	.|0.055;0.974;0.687;0.597;0.081;0.036	T|T	0.33137|0.33137	-0.9880|-0.9880	5|10	.|0.48119	.|T	.|0.1	-5.2936|-5.2936	17.7676|17.7676	0.88483|0.88483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|170;538;486;583;497;531	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	Y|L	161|228;531;486;538;452;124	.|ENSP00000367203:S531L;ENSP00000437405:S486L;ENSP00000372355:S538L;ENSP00000443078:S452L	.|ENSP00000334340:S228L	H|S	+|+	1|2	0|0	KDM6A|KDM6A	44807675|44807675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	3.589000|3.589000	0.53972|0.53972	2.213000|2.213000	0.71641|0.71641	0.513000|0.513000	0.50165|0.50165	CAT|TCA		0.522	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		29	32	0	0	0	1	0	29	32				
OR5AS1	219447	broad.mit.edu	37	11	55798810	55798810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:55798810G>T	ENST00000313555.1	+	1	916	c.916G>T	c.(916-918)Gaa>Taa	p.E306*		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AAAGCTATTAGAAAGAATTGG	0.308																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(916-918)Gaa>Taa		olfactory receptor, family 5, subfamily AS, member 1							45.0	53.0	50.0					11																	55798810		2199	4294	6493	SO:0001587	stop_gained	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798810G>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.916G>T	11.37:g.55798810G>T	ENSP00000324111:p.Glu306*						p.E306*	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	916	+	Esophageal squamous(21;0.00693)		306					Q6IFB8	Nonsense_Mutation	SNP	ENST00000313555.1	37	c.916G>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244008	0.39697	.	.	ENSG00000181785	ENST00000313555	.	.	.	4.76	3.85	0.44370	.	0.807846	0.10030	U	0.724919	.	.	.	.	.	.	0.33580	D	0.599775	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.3733	0.26815	0.2013:0.0:0.7987:0.0	.	.	.	.	X	306	.	ENSP00000324111:E306X	E	+	1	0	OR5AS1	55555386	0.064000	0.20934	0.022000	0.16811	0.245000	0.25701	0.647000	0.24812	0.994000	0.38892	0.579000	0.79373	GAA		0.308	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		12	45	1	0	3.07112e-06	1	3.20088e-06	12	45				
SHANK2	22941	broad.mit.edu	37	11	70505948	70505948	+	Silent	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:70505948C>G	ENST00000423696.2	-	7	945	c.909G>C	c.(907-909)ggG>ggC	p.G303G	SHANK2_ENST00000357171.3_Silent_p.G94G|SHANK2_ENST00000449833.2_Silent_p.G94G|SHANK2_ENST00000338508.4_Silent_p.G683G|SHANK2_ENST00000409161.1_Silent_p.G93G|SHANK2_ENST00000409530.1_Silent_p.G93G|SHANK2_ENST00000449116.2_Silent_p.G94G			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	303	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCAAGAAGTCCCCGGTCCTTA	0.587																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2047-2049)ggG>ggC		SH3 and multiple ankyrin repeat domains 2							126.0	104.0	112.0					11																	70505948		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70505948C>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.909G>C	11.37:g.70505948C>G						SHANK2_ENST00000449833.2_Silent_p.G94G|SHANK2_ENST00000449116.2_Silent_p.G94G|SHANK2_ENST00000423696.2_Silent_p.G303G|SHANK2_ENST00000409530.1_Silent_p.G93G|SHANK2_ENST00000409161.1_Silent_p.G93G|SHANK2_ENST00000357171.3_Silent_p.G94G	p.G683G			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		23	2048	-			303					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.2049G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.280|8.280	0.815311|0.815311	0.16607|0.16607	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000426687|ENST00000412252	T|T	0.59083|0.59364	0.29|0.27	5.0|5.0	-1.22|-1.22	0.09494|0.09494	.|.	0.169530|0.169530	0.51477|0.51477	D|D	0.000090|0.000090	T|T	0.53948|0.53948	0.1828|0.1828	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52548|0.52548	-0.8561|-0.8561	7|7	0.62326|0.87932	D|D	0.03|0	.|.	2.6085|2.6085	0.04884|0.04884	0.1222:0.4253:0.121:0.3315|0.1222:0.4253:0.121:0.3315	.|.	.|.	.|.	.|.	A|R	92|93	ENSP00000391570:G92A|ENSP00000414876:G93R	ENSP00000391570:G92A|ENSP00000414876:G93R	G|G	-|-	2|1	0|0	SHANK2|SHANK2	70183596|70183596	0.609000|0.609000	0.26975|0.26975	0.963000|0.963000	0.40424|0.40424	0.822000|0.822000	0.46500|0.46500	-0.263000|-0.263000	0.08670|0.08670	0.146000|0.146000	0.19002|0.19002	-0.140000|-0.140000	0.14226|0.14226	GGG|GGA		0.587	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		16	83	0	0	0	1	0	16	83				
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377.0	317.0	337.0					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T						SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		5	406	0	0	0	1	0	5	406				
RYR2	6262	broad.mit.edu	37	1	237886488	237886488	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:237886488G>T	ENST00000366574.2	+	74	10932	c.10615G>T	c.(10615-10617)Gat>Tat	p.D3539Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D3523Y|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.D3537Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3539					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAACAGGACTGATGATACCTC	0.398																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10615-10617)Gat>Tat		ryanodine receptor 2 (cardiac)							183.0	172.0	175.0					1																	237886488		1868	4100	5968	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237886488G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10615G>T	1.37:g.237886488G>T	ENSP00000355533:p.Asp3539Tyr					RYR2_ENST00000360064.6_Missense_Mutation_p.D3537Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D3523Y	p.D3539Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		74	10932	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3539					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10615G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093054	0.56075	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96651	-4.08;-4.05;-4.08	5.9	4.99	0.66335	.	0.167461	0.36482	N	0.002579	D	0.92916	0.7746	N	0.08118	0	0.80722	D	1	P	0.39480	0.675	P	0.46049	0.502	D	0.94130	0.7387	10	0.87932	D	0	-11.2112	15.3396	0.74284	0.067:0.0:0.933:0.0	.	3539	Q92736	RYR2_HUMAN	Y	3539;3537;3523;494	ENSP00000355533:D3539Y;ENSP00000353174:D3537Y;ENSP00000443798:D3523Y	ENSP00000353174:D3537Y	D	+	1	0	RYR2	235953111	1.000000	0.71417	0.431000	0.26735	0.975000	0.68041	9.539000	0.98076	1.509000	0.48786	0.455000	0.32223	GAT		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		31	98	1	0	7.35883e-32	1	8.00814e-32	31	98				
MCM4	4173	broad.mit.edu	37	8	48873764	48873764	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr8:48873764C>T	ENST00000262105.2	+	1	269	c.60C>T	c.(58-60)ccC>ccT	p.P20P	PRKDC_ENST00000338368.3_5'Flank|PRKDC_ENST00000314191.2_5'Flank|MCM4_ENST00000523944.1_Silent_p.P20P|PRKDC_ENST00000523565.1_5'Flank	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	20					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGGCCACCCCCGCCCAGACGC	0.771																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(58-60)ccC>ccT		minichromosome maintenance complex component 4							3.0	4.0	4.0					8																	48873764		1623	3503	5126	SO:0001819	synonymous_variant	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48873764C>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.60C>T	8.37:g.48873764C>T						MCM4_ENST00000523944.1_Silent_p.P20P	p.P20P	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			1	269	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	20					Q8NEH1|Q99658	Silent	SNP	ENST00000262105.2	37	c.60C>T	CCDS6143.1																																																																																				0.771	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		5	0	0	0	0	1	0	5	0				
ACTN4	81	broad.mit.edu	37	19	39198795	39198795	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:39198795G>A	ENST00000252699.2	+	6	687	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	204	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGATCCACCGGCACAGACCA	0.567																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(610-612)cGg>cAg		actinin, alpha 4							210.0	142.0	165.0					19																	39198795		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39198795G>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.611G>A	19.37:g.39198795G>A	ENSP00000252699:p.Arg204Gln					ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	p.R204Q	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	687	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		204			Actin-binding.|CH 2.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.611G>A	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	37	6.059815	0.97246	.	.	ENSG00000130402	ENST00000252699;ENST00000445727	D	0.94793	-3.52	5.08	5.08	0.68730	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.96237	0.8773	M	0.87547	2.89	0.80722	D	1	P;P	0.51537	0.931;0.946	P;P	0.49502	0.613;0.518	D	0.96884	0.9648	10	0.87932	D	0	.	17.7647	0.88475	0.0:0.0:1.0:0.0	.	204;204	E7EV83;O43707	.;ACTN4_HUMAN	Q	204	ENSP00000252699:R204Q	ENSP00000252699:R204Q	R	+	2	0	ACTN4	43890635	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.790000	0.85794	2.804000	0.96469	0.462000	0.41574	CGG		0.567	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			42	93	0	0	0	1	0	42	93				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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		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"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(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	CM083194|CM951225	TP53	M		c.(577-579)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		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.chr17:7578271T>C	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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	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_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R	p.H193R	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)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.578A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	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	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	7	0	0	0	1	0	41	7				
PPP2R1A	5518	broad.mit.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		24	Substitution - Missense(24)	p.R183W(22)|p.R183G(2)	ovary(16)|endometrium(4)|large_intestine(3)|pancreas(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(547-549)Cgg>Tgg		protein phosphatase 2, regulatory subunit A, alpha							69.0	57.0	61.0					19																	52715982		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715982C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.547C>T	19.37:g.52715982C>T	ENSP00000324804:p.Arg183Trp					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	p.R183W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	605	+			183			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.547C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360081	0.82353	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.34193	0.0889	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	T	0.40459	-0.9562	10	0.87932	D	0	-15.4468	10.2034	0.43099	0.1981:0.8019:0.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	W	173;103;183;128	ENSP00000324804:R183W;ENSP00000415067:R128W	ENSP00000324804:R183W	R	+	1	2	PPP2R1A	57407794	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.933000	0.63484	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		32	68	0	0	0	1	0	32	68				
NKAIN4	128414	broad.mit.edu	37	20	61875393	61875393	+	Missense_Mutation	SNP	G	G	A	rs141841184		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr20:61875393G>A	ENST00000370316.3	-	5	604	c.515C>T	c.(514-516)aCg>aTg	p.T172M	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.T110M|NKAIN4_ENST00000370313.1_Missense_Mutation_p.T110M	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					CTCTTCCTCCGTAAACACGCT	0.637																																						ENST00000370316.3																			0				endometrium(2)|lung(1)|ovary(1)	4						c.(514-516)aCg>aTg		Na+/K+ transporting ATPase interacting 4		G	MET/THR	0,4406		0,0,2203	79.0	68.0	72.0		515	2.9	0.1	20	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKAIN4	NM_152864.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	172/209	61875393	1,13005	2203	4300	6503	SO:0001583	missense	128414					integral to membrane|plasma membrane		g.chr20:61875393G>A	BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"""Na+/K+ transporting ATPase interacting"""	16191	protein-coding gene	gene with protein product		612873	"""chromosome 20 open reading frame 58"""	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.515C>T	20.37:g.61875393G>A	ENSP00000359340:p.Thr172Met					NKAIN4_ENST00000370313.1_Missense_Mutation_p.T110M|NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.T110M	p.T172M	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN			5	604	-	all_cancers(38;2.72e-09)		172					Q4VXQ6|Q9BQU8|Q9BQU9	Missense_Mutation	SNP	ENST00000370316.3	37	c.515C>T	CCDS13514.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.995|8.995	0.978640|0.978640	0.18812|0.18812	0.0|0.0	1.16E-4|1.16E-4	ENSG00000101198|ENSG00000101198	ENST00000370317|ENST00000370313;ENST00000370316;ENST00000370307	T|T;T;T	0.24151|0.14391	1.87|2.51;2.51;2.51	3.88|3.88	2.92|2.92	0.33932|0.33932	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.14442|0.14442	0.0349|0.0349	L|L	0.59912|0.59912	1.85|1.85	0.27442|0.27442	N|N	0.953696|0.953696	.|D	.|0.53151	.|0.958	.|P	.|0.44477	.|0.451	T|T	0.09378|0.09378	-1.0677|-1.0677	7|10	0.87932|0.38643	D|T	0|0.18	-7.0E-4|-7.0E-4	6.9384|6.9384	0.24478|0.24478	0.2181:0.0:0.7819:0.0|0.2181:0.0:0.7819:0.0	.|.	.|172	.|Q8IVV8	.|NKAI4_HUMAN	W|M	127|110;172;110	ENSP00000359341:R127W|ENSP00000359336:T110M;ENSP00000359340:T172M;ENSP00000359330:T110M	ENSP00000359341:R127W|ENSP00000359330:T110M	R|T	-|-	1|2	2|0	NKAIN4|NKAIN4	61345838|61345838	0.082000|0.082000	0.21442|0.21442	0.070000|0.070000	0.20053|0.20053	0.018000|0.018000	0.09664|0.09664	1.544000|1.544000	0.36158|0.36158	0.613000|0.613000	0.30089|0.30089	0.397000|0.397000	0.26171|0.26171	CGG|ACG		0.637	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3	NM_152864		4	45	0	0	0	1	0	4	45				
DNM3	26052	broad.mit.edu	37	1	171958171	171958172	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:171958171_171958172insA	ENST00000355305.5	+	4	629_630	c.472_473insA	c.(472-474)gaafs	p.E158fs	DNM3_ENST00000367733.2_Frame_Shift_Ins_p.E158fs|DNM3_ENST00000367731.1_Frame_Shift_Ins_p.E158fs|DNM3_ENST00000358155.4_Frame_Shift_Ins_p.E158fs|DNM3_ENST00000520906.1_Frame_Shift_Ins_p.E158fs			Q9UQ16	DYN3_HUMAN	dynamin 3	158	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCAGATCAGAGAAATGATTATG	0.426																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(472-474)aatfs		dynamin 3																																				SO:0001589	frameshift_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171958171_171958172insA	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.475dupA	1.37:g.171958174_171958174dupA	ENSP00000347457:p.Glu158fs					DNM3_ENST00000367733.2_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000367731.1_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000520906.1_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000355305.5_Frame_Shift_Ins_p.N158fs	p.N158fs	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			4	648_649	+			158					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Frame_Shift_Ins	INS	ENST00000355305.5	37	c.472_473insA																																																																																					0.426	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		22	19						22	19	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		7	161						7	161	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589585	67589586	+	In_Frame_Ins	INS	-	-	ATG			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:67589585_67589586insATG	ENST00000521381.1	+	11	1964_1965	c.1348_1349insATG	c.(1348-1350)cat>cATGat	p.450_451insD	PIK3R1_ENST00000396611.1_In_Frame_Ins_p.450_451insD|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.180_181insD|PIK3R1_ENST00000521657.1_In_Frame_Ins_p.450_451insD|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.450_451insD|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.87_88insD|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.150_151insD	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	450			E -> K (in dbSNP:rs17852841). {ECO:0000269|PubMed:15489334}.		B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H450_E451del(2)|p.G446_Y452>VI(1)|p.0?(1)|p.?(1)|p.E451_Y452delEY(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAAAAATTACATGAATATAAC	0.282			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		6	Deletion - In frame(3)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	p.H450_E451del(2)|p.G446_Y452>VI(1)|p.0?(1)|p.?(1)|p.E451_Y452delEY(1)	large_intestine(2)|central_nervous_system(2)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1348-1350)tga>ATGtga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001652	inframe_insertion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589585_67589586insATG	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1349_1351dupATG	5.37:g.67589586_67589588dupATG	ENSP00000428056:p.His450_Glu451insAsp	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000521657.1_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.149_150insM|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.86_87insM|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.179_180insM	p.449_450insM	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1964_1965	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	449					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	ENST00000521381.1	37	c.1348_1349insATG	CCDS3993.1																																																																																				0.282	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		24	21						24	21	---	---	---	---
PPAPDC2	403313	broad.mit.edu	37	9	4662430	4662432	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:4662430_4662432delAGC	ENST00000381883.2	+	1	133_135	c.55_57delAGC	c.(55-57)agcdel	p.S23del	SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000223517.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	23						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CTCCGCTTCGAGCAGCAGCAGCA	0.729											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(187;1057 3809 8526)	ENST00000381883.2																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(55-57)del		phosphatidic acid phosphatase type 2 domain containing 2			,	10,2400		2,6,1197					,	-7.1	0.0			3	30,5308		2,26,2641	no	coding,intron	C9orf68,PPAPDC2	NM_203453.2,NM_001039395.3	,	4,32,3838	A1A1,A1R,RR		0.562,0.4149,0.5163	,	,		40,7708				SO:0001651	inframe_deletion	403313					integral to membrane	hydrolase activity	g.chr9:4662430_4662432delAGC	AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"""polyisoprenoid diphosphate phosphatase type 1"""	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.55_57delAGC	9.37:g.4662439_4662441delAGC	ENSP00000371307:p.Ser23del		OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron	p.S23del	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN		GBM - Glioblastoma multiforme(50;0.026)	1	133_135	+	all_hematologic(13;0.137)	Breast(48;0.238)	23					B3KY05|Q5JVJ6|Q8NCK9	In_Frame_Del	DEL	ENST00000381883.2	37	c.55_57delAGC	CCDS34981.1																																																																																				0.729	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		2	4						2	4	---	---	---	---
ANKRD18A	253650	broad.mit.edu	37	9	38615615	38615618	+	Frame_Shift_Del	DEL	ATGG	ATGG	-	rs201356600		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:38615615_38615618delATGG	ENST00000399703.5	-	3	842_845	c.468_471delCCAT	c.(466-471)caccatfs	p.HH156fs		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	156										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						CAATATTTGCATGGTGGGAAAGCA	0.373																																						ENST00000399703.5																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						c.(466-471)cafs		ankyrin repeat domain 18A																																				SO:0001589	frameshift_variant	253650							g.chr9:38615615_38615618delATGG	AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.468_471delCCAT	9.37:g.38615615_38615618delATGG	ENSP00000382610:p.His156fs						p.HH156fs	NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN			3	842_845	-			156					A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Frame_Shift_Del	DEL	ENST00000399703.5	37	c.468_471delCCAT	CCDS55311.1																																																																																				0.373	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052506.3			7	4						7	4	---	---	---	---
IGHV3OR16-8	388255	broad.mit.edu	37	16	33021179	33021180	+	RNA	INS	-	-	GTTT	rs377715197		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr16:33021179_33021180insGTTT	ENST00000565407.2	+	0	349				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		AATGTAAAACGTTTTTTTTTGT	0.416																																						ENST00000567619.1																			0																																																			0							g.chr16:33021179_33021180insGTTT	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33021179_33021180insGTTT														0	499	-									RNA	INS	ENST00000565407.2	37																																																																																						0.416	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			2	4						2	4	---	---	---	---
LOC63930	63930	broad.mit.edu	37	20	61680495	61680495	+	lincRNA	DEL	T	T	-			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr20:61680495delT	ENST00000607802.1	+	0	91				LINC01056_ENST00000455711.1_lincRNA	NR_033370.1																						ctcttcctcctcctcctcctc	0.612																																						ENST00000607802.1																			0																																																			0							g.chr20:61680495delT																													20.37:g.61680495delT						RP11-305P22.5_ENST00000455711.1_lincRNA		NR_033370.1						0	91	+									RNA	DEL	ENST00000607802.1	37																																																																																						0.612	RP11-305P22.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470475.1			2	4						2	4	---	---	---	---
